subject:(neurofibromatosis type 1 associated tumors)

Freie Universität Berlin

1. Lüth, Maria. Analysis of mitochondrial DNA mutations in patients with neuroectodermal tumors.

Degree: 2011, Freie Universität Berlin

URL: https://refubium.fu-berlin.de/handle/fub188/13747

► To detect somatic mitochondrial DNA mutations in neuroectodermal tumors, mutation analysis in patients with medulloblastoma, pilocytic astrocytoma and neurofibromatosis type 1-associated tumors was performed. MtDNA… (more)

▼ To detect somatic mitochondrial DNA mutations in neuroectodermal tumors, mutation analysis in patients with medulloblastoma, pilocytic astrocytoma and neurofibromatosis type 1-associated tumors was performed. MtDNA alterations in the entire mitochondrial genome were analyzed by temporal temperature gradient gelelectrophoresis followed by DNA sequencing. We have analyzed the entire mitochondrial genome in 15 cases of medulloblastoma and the corresponding cerebrospinal fluid (CSF) samples in 10 of the 15 cases. Six of the fifteen cases (40%) showed at least one mtDNA mutation in the tumors. A total of 18 somatic mtDNA mutations were detected with one of the tumors having 11 mutations of which 9 were novel. Three of the six cases with mtDNA mutation also showed mutation in the cell-free CSF collected at various times during therapy. Somatic mtDNA mutations in tumors were found in 7 of 19 individuals with cutaneous neurofibromas and in 9 of 18 patients with plexiform neurofibromas. A total of 34 somatic mtDNA mutations were found. All mutations were located in the displacement loop region of the mitochondrial genome. Several plexiform neurofibromas from individual patients had multiple homoplasmic mtDNA mutations. In cutaneous neurofibromas, the same mtDNA mutations were always present in tumors from different locations of the same individual. An increase in the proportion of the mutant mtDNA was always found in the neurofibromas when compared with nontumor tissues. The somatic mtDNA mutations were present in the Schwann cells of the analyzed multiple cutaneous neurofibromas of the same individual. The observed dominance of a single mtDNA mutation in multiple cutaneous neurofibromas of individual patients indicates a common tumor cell ancestry and suggests a replicative advantage rather than random segregation for cells carrying these mutated mitochondria. Advisors/Committee Members: [email protected] (contact), w (gender), PD Dr. med. P. Hernáiz-Driever (firstReferee), Prof. Dr. med. M. Hasselblatt (furtherReferee), Prof. Dr. med. F. Aksu (furtherReferee).

Subjects/Keywords: mtDNA; somatic mutations; neurofibromatosis type 1-associated tumors; pilocytic astrocytoma; medulloblastoma; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Lüth, M. (2011). Analysis of mitochondrial DNA mutations in patients with neuroectodermal tumors. (Thesis). Freie Universität Berlin. Retrieved from https://refubium.fu-berlin.de/handle/fub188/13747

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Lüth, Maria. “Analysis of mitochondrial DNA mutations in patients with neuroectodermal tumors.” 2011. Thesis, Freie Universität Berlin. Accessed January 22, 2021. https://refubium.fu-berlin.de/handle/fub188/13747.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Lüth, Maria. “Analysis of mitochondrial DNA mutations in patients with neuroectodermal tumors.” 2011. Web. 22 Jan 2021.

Vancouver:

Lüth M. Analysis of mitochondrial DNA mutations in patients with neuroectodermal tumors. [Internet] [Thesis]. Freie Universität Berlin; 2011. [cited 2021 Jan 22]. Available from: https://refubium.fu-berlin.de/handle/fub188/13747.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Lüth M. Analysis of mitochondrial DNA mutations in patients with neuroectodermal tumors. [Thesis]. Freie Universität Berlin; 2011. Available from: https://refubium.fu-berlin.de/handle/fub188/13747

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Adelaide

2. Yap, Yoon-Sim. Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer.

Degree: 2018, University of Adelaide

URL: http://hdl.handle.net/2440/119702

► Title: Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer Overview: These studies were initiated after seeing a series of women with Neurofibromatosis Type… (more)

▼ Title: Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer Overview: These studies were initiated after seeing a series of women with Neurofibromatosis Type 1 (NF1) and breast cancer (BC) at National Cancer Centre Singapore (NCCS) from 2006 to 2009. Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition syndrome related to germline aberrations of NF1, a tumour suppressor gene. NF1 is usually a clinical diagnosis as individuals with NF1 typically develop multiple neurofibromas which can be cosmetically disfiguring, in addition to other features such as café-au-lait spots, skin tags and Lisch nodules. These patients under my care had aggressive HER2-positive breast cancers that did not seem to respond to standard systemic therapies as well as in individuals without NF1 syndrome. Individuals with NF1, an autosomal dominant genetic disorder, are known to be at increased risk of developing various tumours, such as malignant peripheral nerve sheath tumour (MPNST), phaeochromocytoma, glioma, and rhabdomyosarcoma. In 2007, the first study which reported an increased risk of breast cancer in women with NF1 was published. Since then, there have been a number of other epidemiological studies with the consistent finding that women with NF1 are have a three- to eight-fold increased risk of breast cancer, especially for women aged less than 50 years. Data on the characteristics of BC in NF1 patients is currently still limited. Our group was the first to discover the higher frequency of HER2-positive, hormone receptor negative and grade 3 breast cancers in women with NF1 compared to breast cancers in women without NF1. We have also performed genomic profiling of these NF1-associated breast cancers. Over the course of my candidature, large-scale exome or genome sequencing studies led by various groups such as The Cancer Genome Atlas (TCGA), International Cancer Genome Consortium (ICGC) and METABRIC, have revealed somatic NF1 aberrations in different sporadic tumours from individuals in the absence of a clinical diagnosis of NF1. These somatic NF1 alterations appear to be associated with resistance to standard therapy and adverse outcomes, similar to the breast cancers in women with clinical NF1 syndrome. Improved understanding of the implications of NF1 aberrations is critical for the development of novel therapeutic strategies. In Asia, women with breast cancer are on average younger than in Western populations, resulting in higer rates of poor prognosis breast cancers in premenopausal women. Since somatic NF1 mutations in BC are associated with poor prognosis, we also aimed to explore the potential role of NF1 and neurofibromin in the sporadic BCs from patients without NF1. This included immunohistochemical staining of tissue micrroarrays, and targeted gene sequencing (with NF1 in the gene panel). Structure of Thesis and Research Questions: Chapter 1: Systematic Review: This literature review focused on the germline NF1 disorder, the biology of the NF1 gene and neurofibromin, tumours… Advisors/Committee Members: Callen, David (advisor), Lee, Ann (advisor), Adelaide Medical School (school).

Subjects/Keywords: Breast cancer; neurofibromatosis type 1; neurofibromin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Yap, Y. (2018). Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer. (Thesis). University of Adelaide. Retrieved from http://hdl.handle.net/2440/119702

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Yap, Yoon-Sim. “Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer.” 2018. Thesis, University of Adelaide. Accessed January 22, 2021. http://hdl.handle.net/2440/119702.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Yap, Yoon-Sim. “Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer.” 2018. Web. 22 Jan 2021.

Vancouver:

Yap Y. Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer. [Internet] [Thesis]. University of Adelaide; 2018. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/2440/119702.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Yap Y. Germline and Somatic Neurofibromatosis Type 1 Aberrations in Breast Cancer. [Thesis]. University of Adelaide; 2018. Available from: http://hdl.handle.net/2440/119702

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Manchester

3. Garg, Shruti. Autism Spectrum Disorder in Neufibromatosis Type 1: Prevalence and characterisation of the phenotype.

Degree: 2015, University of Manchester

URL: http://www.manchester.ac.uk/escholar/uk-ac-man-scw:269838

► Autism Spectrum disorder (ASD) is a pervasive developmental disorder with a population prevalence of about 1%. The aetiology of ASD is complex and highly heterogeneous… (more)

▼ Autism Spectrum disorder (ASD) is a pervasive developmental disorder with a population prevalence of about 1%. The aetiology of ASD is complex and highly heterogeneous but the importance of a genetic contribution is well known. There is a growing body of interest in the study of ASD in genetic syndromes as one potential route to understanding the overall neurobiology of autism. Neurofibromatosis Type 1 (NF1) is a common autosomal dominant genetic disorder in which an association with ASD has been described. NF1 is an important monogenic disorder model to study in the context of ASD as its genetics, neurobiology and neuropathology are well understood and there are available candidate treatments that can specifically target the neurobiological pathway in the disorder.Using a two-phase approach in a large population based sample of children with NF1, the behavioural phenotype and the prevalence of ASD was studied. Study I found a population prevalence of autism symptomatology of 60% on parent-reported screening measures. In-depth phenotyping on a proportion of the Study I sample found ASD prevalence estimates of 25% ASD in the NF1 population. Detailed characterization of the NF1—ASD phenotype was carried out by comparing the NF1+ASD sample, to non-syndromic ASD. The NF1+ASD phenotype showed overall similarity to non-syndromic ASD but with improved eye contact, less repetitive behaviours and better language skills. Further the NF1+ASD sample was compared to the NF1 only sample-using parent reported Autism Diagnostic Interview—Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The results suggested significant group differences; discriminating behaviours between the groups include items relating to imaginative play, sharing, unusual preoccupations and sensory interests.These studies establish NF1 as a single gene model of syndromic autism. Detailed characterisation of the NF1+ASD phenotype shows marked similarities with non-syndromic ASD but also some differences. The neurobiology of NF1 is well understood and there are candidate treatments that have shown to reverse the underlying learning and social skills deficits in murine models. Studies of behavioural phenotypes of NF1 are therefore of crucial importance and can help illuminate the neurobiology of autism development. Furthermore targeted pharmacological interventions developed for symptoms NF1 may have some benefit for non-syndromic ASD as well. Advisors/Committee Members: HUSON, SUSAN S, Huson, Susan, Green, Jonathan.

Subjects/Keywords: Neurofibromatosis Type 1; Autism Spectrum Disorder

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Garg, S. (2015). Autism Spectrum Disorder in Neufibromatosis Type 1: Prevalence and characterisation of the phenotype. (Doctoral Dissertation). University of Manchester. Retrieved from http://www.manchester.ac.uk/escholar/uk-ac-man-scw:269838

Chicago Manual of Style (16^th Edition):

Garg, Shruti. “Autism Spectrum Disorder in Neufibromatosis Type 1: Prevalence and characterisation of the phenotype.” 2015. Doctoral Dissertation, University of Manchester. Accessed January 22, 2021. http://www.manchester.ac.uk/escholar/uk-ac-man-scw:269838.

MLA Handbook (7^th Edition):

Garg, Shruti. “Autism Spectrum Disorder in Neufibromatosis Type 1: Prevalence and characterisation of the phenotype.” 2015. Web. 22 Jan 2021.

Vancouver:

Garg S. Autism Spectrum Disorder in Neufibromatosis Type 1: Prevalence and characterisation of the phenotype. [Internet] [Doctoral dissertation]. University of Manchester; 2015. [cited 2021 Jan 22]. Available from: http://www.manchester.ac.uk/escholar/uk-ac-man-scw:269838.

Council of Science Editors:

Garg S. Autism Spectrum Disorder in Neufibromatosis Type 1: Prevalence and characterisation of the phenotype. [Doctoral Dissertation]. University of Manchester; 2015. Available from: http://www.manchester.ac.uk/escholar/uk-ac-man-scw:269838

University of Southern California

4. Xia, Caihong. Carboplatin and vincristine chemotherapy for progressive low grade gliomas in pediatric patients with or without neurofibromatosis type 1 (NF1).

Degree: MS, Applied Biostatistics and Epidemiology, 2014, University of Southern California

URL: http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/507988/rec/1234

► To evaluate and compare the therapeutic effects and toxicity of chemotherapy for low grade gliomas (LGG) in Neurofibromatosis Type 1 (NF1) and non-NF children, patients… (more)

Subjects/Keywords: chemotherapy; low grade gliomas; neurofibromatosis type 1

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Xia, C. (2014). Carboplatin and vincristine chemotherapy for progressive low grade gliomas in pediatric patients with or without neurofibromatosis type 1 (NF1). (Masters Thesis). University of Southern California. Retrieved from http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/507988/rec/1234

Chicago Manual of Style (16^th Edition):

Xia, Caihong. “Carboplatin and vincristine chemotherapy for progressive low grade gliomas in pediatric patients with or without neurofibromatosis type 1 (NF1).” 2014. Masters Thesis, University of Southern California. Accessed January 22, 2021. http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/507988/rec/1234.

MLA Handbook (7^th Edition):

Xia, Caihong. “Carboplatin and vincristine chemotherapy for progressive low grade gliomas in pediatric patients with or without neurofibromatosis type 1 (NF1).” 2014. Web. 22 Jan 2021.

Vancouver:

Xia C. Carboplatin and vincristine chemotherapy for progressive low grade gliomas in pediatric patients with or without neurofibromatosis type 1 (NF1). [Internet] [Masters thesis]. University of Southern California; 2014. [cited 2021 Jan 22]. Available from: http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/507988/rec/1234.

Council of Science Editors:

Xia C. Carboplatin and vincristine chemotherapy for progressive low grade gliomas in pediatric patients with or without neurofibromatosis type 1 (NF1). [Masters Thesis]. University of Southern California; 2014. Available from: http://digitallibrary.usc.edu/cdm/compoundobject/collection/p15799coll3/id/507988/rec/1234

University of Manchester

5. Garg, Shruti. Autism Spectrum Disorder in Neufibromatosis Type 1 : prevalence and characterisation of the phenotype.

Degree: PhD, 2015, University of Manchester

URL: https://www.research.manchester.ac.uk/portal/en/theses/autism-spectrum-disorder-in-neufibromatosis-type-1-prevalence-and-characterisation-of-the-phenotype(8c34a30e-5ef7-4c95-a28a-d52af41a66d1).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.816244

► Autism Spectrum disorder (ASD) is a pervasive developmental disorder with a population prevalence of about 1%. The aetiology of ASD is complex and highly heterogeneous… (more)

▼ Autism Spectrum disorder (ASD) is a pervasive developmental disorder with a population prevalence of about 1%. The aetiology of ASD is complex and highly heterogeneous but the importance of a genetic contribution is well known. There is a growing body of interest in the study of ASD in genetic syndromes as one potential route to understanding the overall neurobiology of autism. Neurofibromatosis Type 1 (NF1) is a common autosomal dominant genetic disorder in which an association with ASD has been described. NF1 is an important monogenic disorder model to study in the context of ASD as its genetics, neurobiology and neuropathology are well understood and there are available candidate treatments that can specifically target the neurobiological pathway in the disorder. Using a two-phase approach in a large population based sample of children with NF1, the behavioural phenotype and the prevalence of ASD was studied. Study I found a population prevalence of autism symptomatology of 60% on parent-reported screening measures. In-depth phenotyping on a proportion of the Study I sample found ASD prevalence estimates of 25% ASD in the NF1 population. Detailed characterization of the NF1-ASD phenotype was carried out by comparing the NF1+ASD sample, to non-syndromic ASD. The NF1+ASD phenotype showed overall similarity to non-syndromic ASD but with improved eye contact, less repetitive behaviours and better language skills. Further the NF1+ASD sample was compared to the NF1 only sample-using parent reported Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS). The results suggested significant group differences; discriminating behaviours between the groups include items relating to imaginative play, sharing, unusual preoccupations and sensory interests. These studies establish NF1 as a single gene model of syndromic autism. Detailed characterisation of the NF1+ASD phenotype shows marked similarities with non-syndromic ASD but also some differences. The neurobiology of NF1 is well understood and there are candidate treatments that have shown to reverse the underlying learning and social skills deficits in murine models. Studies of behavioural phenotypes of NF1 are therefore of crucial importance and can help illuminate the neurobiology of autism development. Furthermore targeted pharmacological interventions developed for symptoms NF1 may have some benefit for non-syndromic ASD as well.

Subjects/Keywords: Autism Spectrum Disorder; Neurofibromatosis Type 1

Record Details Similar Records Cite « Share

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Garg, S. (2015). Autism Spectrum Disorder in Neufibromatosis Type 1 : prevalence and characterisation of the phenotype. (Doctoral Dissertation). University of Manchester. Retrieved from https://www.research.manchester.ac.uk/portal/en/theses/autism-spectrum-disorder-in-neufibromatosis-type-1-prevalence-and-characterisation-of-the-phenotype(8c34a30e-5ef7-4c95-a28a-d52af41a66d1).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.816244

Chicago Manual of Style (16^th Edition):

Garg, Shruti. “Autism Spectrum Disorder in Neufibromatosis Type 1 : prevalence and characterisation of the phenotype.” 2015. Doctoral Dissertation, University of Manchester. Accessed January 22, 2021. https://www.research.manchester.ac.uk/portal/en/theses/autism-spectrum-disorder-in-neufibromatosis-type-1-prevalence-and-characterisation-of-the-phenotype(8c34a30e-5ef7-4c95-a28a-d52af41a66d1).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.816244.

MLA Handbook (7^th Edition):

Garg, Shruti. “Autism Spectrum Disorder in Neufibromatosis Type 1 : prevalence and characterisation of the phenotype.” 2015. Web. 22 Jan 2021.

Vancouver:

Garg S. Autism Spectrum Disorder in Neufibromatosis Type 1 : prevalence and characterisation of the phenotype. [Internet] [Doctoral dissertation]. University of Manchester; 2015. [cited 2021 Jan 22]. Available from: https://www.research.manchester.ac.uk/portal/en/theses/autism-spectrum-disorder-in-neufibromatosis-type-1-prevalence-and-characterisation-of-the-phenotype(8c34a30e-5ef7-4c95-a28a-d52af41a66d1).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.816244.

Council of Science Editors:

Garg S. Autism Spectrum Disorder in Neufibromatosis Type 1 : prevalence and characterisation of the phenotype. [Doctoral Dissertation]. University of Manchester; 2015. Available from: https://www.research.manchester.ac.uk/portal/en/theses/autism-spectrum-disorder-in-neufibromatosis-type-1-prevalence-and-characterisation-of-the-phenotype(8c34a30e-5ef7-4c95-a28a-d52af41a66d1).html ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.816244

IUPUI

6. McDaniel, Andrew S. THE ROLE OF PAK1 IN THE CELLULAR AND MOLECULAR COMPONENTS OF PLEXIFORM NEUROFIBROMAS.

Degree: 2008, IUPUI

URL: http://hdl.handle.net/1805/1696

►

Indiana University-Purdue University Indianapolis (IUPUI)

Neurofibromatosis type I (NF1) is a common genetic disease that affects over 200,000 patients in North America, Europe, and Japan.… (more)

▼

Indiana University-Purdue University Indianapolis (IUPUI)

Neurofibromatosis type I (NF1) is a common genetic disease that affects over 200,000 patients in North America, Europe, and Japan. Individuals with NF1 display a wide variety of pathologies; importantly, 15-40% of NF1 patients are affected by plexiform neurofibromas. Neurofibromas are complex tumors consisting of tumorgenic Schwann cells surrounded by endothelial cells, fibroblasts, and inflammatory mast cells. These peripheral nerve sheath tumors contribute significantly to the morbidity and mortality associated with NF1. Currently, no medical therapies exist for treating neurofibromas. Recent evidence indicates that the hematopoietic tumor microenvironment carries out a crucial function in the formation of plexiform neurofibromas. Neurofibromatosis is the result of mutations at the NF1 locus, which encodes the GTPase activating protein neurofibromin. Neurofibromin is a negative regulator of the proto-oncogene Ras. Ras hyperactivation is the molecular basis of NF1 associated phenotypes, and it has been demonstrated that restoration of Ras signaling to wild type levels can correct NF1 associated phenotypes in vitro and in vivo. In keeping with the long term goal of detecting potential molecular targets for medical therapies to treat human plexiform neurofibromas, we have identified the kinase Pak1 as a possible downstream intermediary of Ras signaling in NF1 deficient cells. Studies described here utilized murine genetic models to study the effects of genetic inactivation of Pak1 on molecular signaling and cellular functions related to neurofibromas. We demonstrate that inactivation of Pak1 leads to correction of SCF mediated gain-in-function phenotypes seen in Nf1 haploinsufficient mast cells, in vivo and in vitro. However, by using a conditional Nf1 knockout mouse that is a reliable model of plexiform neurofibroma formation, we shown that loss of Pak1 alone in the hematopoeitic compartement is not sufficient to prevent neurofibroma formation. Additionally, we describe a key role for Pak1 in regulating PDGF and TGF-β mediated fibroblast functions, in vitro and in vivo. These studies provide insight into the causes of debilitating tumors related to a common genetic disease, and this research could potentially lead to the development of medical therapies for these tumors, increasing the quality of life for tens of thousands of affected individuals each year.

Advisors/Committee Members: Clapp, D. Wade, Broxmeyer, Hal E., Ingram, David A., Srour, Edward F..

Subjects/Keywords: Neurofibromatosis type 1; Mast cells; Neurofibromatosis

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

McDaniel, A. S. (2008). THE ROLE OF PAK1 IN THE CELLULAR AND MOLECULAR COMPONENTS OF PLEXIFORM NEUROFIBROMAS. (Thesis). IUPUI. Retrieved from http://hdl.handle.net/1805/1696

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

McDaniel, Andrew S. “THE ROLE OF PAK1 IN THE CELLULAR AND MOLECULAR COMPONENTS OF PLEXIFORM NEUROFIBROMAS.” 2008. Thesis, IUPUI. Accessed January 22, 2021. http://hdl.handle.net/1805/1696.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

McDaniel, Andrew S. “THE ROLE OF PAK1 IN THE CELLULAR AND MOLECULAR COMPONENTS OF PLEXIFORM NEUROFIBROMAS.” 2008. Web. 22 Jan 2021.

Vancouver:

McDaniel AS. THE ROLE OF PAK1 IN THE CELLULAR AND MOLECULAR COMPONENTS OF PLEXIFORM NEUROFIBROMAS. [Internet] [Thesis]. IUPUI; 2008. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1805/1696.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

McDaniel AS. THE ROLE OF PAK1 IN THE CELLULAR AND MOLECULAR COMPONENTS OF PLEXIFORM NEUROFIBROMAS. [Thesis]. IUPUI; 2008. Available from: http://hdl.handle.net/1805/1696

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

7. Luscan, Armelle. Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1 : Identification of genetics events involved in malignant transformation in neurofibromatosis type 1.

Degree: Docteur es, Génétique, 2016, Sorbonne Paris Cité

URL: http://www.theses.fr/2016USPCB050

►

La neurofibromatose de type 1 (NF1) est un syndrome de prédisposition tumorale causée par une mutation perte-de-fonction du gène suppresseur de tumeurs NF1. Près de… (more)

▼

La neurofibromatose de type 1 (NF1) est un syndrome de prédisposition tumorale causée par une mutation perte-de-fonction du gène suppresseur de tumeurs NF1. Près de la moitié des patients atteints de NF1 développent un type de tumeurs bénignes des gaines des nerfs périphériques appelés neurofibromes plexiformes. Ces tumeurs sont majoritairement constituées de cellules de Schwann présentant une inactivation somatique du deuxième allèle NF1. Les neurofibromes plexiformes peuvent se transformer en tumeurs malignes dénommées MPNST (Malignant Peripheral Nerve Sheath Tumor) qui sont des sarcomes extrêmement agressifs, résistants aux thérapies actuelles et représentant la première cause de mortalité des patients NF1. A ce jour, les acteurs à l’origine de cette transformation maligne ne sont pas clairement établis. Leur identification représente donc un enjeu majeur pour une prise en charge appropriée des patients et le développement de nouvelles molécules thérapeutiques. Dans ce contexte, le travail mené au cours de ma thèse a eu pour objectifs la recherche et la caractérisation de nouvelles voies de signalisations impliquées dans la tumorigenèse NF1. D’une part, une approche orientée par les travaux antérieurs au laboratoire a permis de montrer l’implication de la voie WNT dans la tumorigenèse NF1. D’autre part, une approche génomique plus large a conduit à la mise en évidence de l’inactivation du répresseur transcriptionnel PRC2 (Polycomb Repressive Complex 2) dans près de la moitié des MPNST. La génération de modèles cellulaires in vitro a facilité l’exploration des gènes surexprimés lors de la perte de fonction du PRC2. Elle a également permis d’entreprendre un crible lentiCRISPR pan-génomique à la recherche des gènes essentiels à la survie des cellules tumorales mutées pour le PRC2.

Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome caused by loss-offunction mutations in the NF1 tumor suppressor gene. Almost half of NF1 patients develop a specific type of benign peripheral nerve sheath tumor called plexiform neurofibromas. These tumors are mainly composed of Schwann cells in which the second NF1 allele is inactivated. Plexiform neurofibromas can give rise to malignant tumors called MPNST that are extremely aggressive sarcomas, resistant to therapy and which represents the first cause of early demise of NF1 patients. The molecular mechanisms underlying this malignant transformation remain enigmatic. Their identification is crucial for appropriate management of NF1 patients and development of new therapies. The goal of my PhD was to identify and characterize new signaling pathways involved in NF1 tumorigenesis. On the one hand, we highlighted the involvement of WNT pathway in NF1 tumorigenesis. On the other hand, a larger genomic approach led to the identification of the transcriptional repressor PRC2 (Polycomb Repressive Complex 2) inactivation in almost half of MPNST. We have generated various cell models, which facilitated the exploration of genes aberrantly expressed consequently to PRC2…

Advisors/Committee Members: Vidaud, Michel (thesis director), Margueron, Raphaël (thesis director).

Subjects/Keywords: Neurofibromatose de type 1; MPNST; PRC2; Neurofibromatosis type 1; MPNST; PRC2; 616.042

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Luscan, A. (2016). Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1 : Identification of genetics events involved in malignant transformation in neurofibromatosis type 1. (Doctoral Dissertation). Sorbonne Paris Cité. Retrieved from http://www.theses.fr/2016USPCB050

Chicago Manual of Style (16^th Edition):

Luscan, Armelle. “Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1 : Identification of genetics events involved in malignant transformation in neurofibromatosis type 1.” 2016. Doctoral Dissertation, Sorbonne Paris Cité. Accessed January 22, 2021. http://www.theses.fr/2016USPCB050.

MLA Handbook (7^th Edition):

Luscan, Armelle. “Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1 : Identification of genetics events involved in malignant transformation in neurofibromatosis type 1.” 2016. Web. 22 Jan 2021.

Vancouver:

Luscan A. Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1 : Identification of genetics events involved in malignant transformation in neurofibromatosis type 1. [Internet] [Doctoral dissertation]. Sorbonne Paris Cité; 2016. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2016USPCB050.

Council of Science Editors:

Luscan A. Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1 : Identification of genetics events involved in malignant transformation in neurofibromatosis type 1. [Doctoral Dissertation]. Sorbonne Paris Cité; 2016. Available from: http://www.theses.fr/2016USPCB050

8. Aubin, Deborah. Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives : Neurofibromatosis disease modelling : development of a test study and applications for the discovery of active molecules.

Degree: Docteur es, Biologie cellulaire et moléculaire, 2019, Université Paris-Saclay (ComUE)

URL: http://www.theses.fr/2019SACLE002

► La neurofibromatose de type 1 (NF1) représente la maladie génétique autosomale dominante la plus fréquente en France, après la mucovisidose, avec une incidence de 1… (more)

▼ La neurofibromatose de type 1 (NF1) représente la maladie génétique autosomale dominante la plus fréquente en France, après la mucovisidose, avec une incidence de 1 individu sur 3500. Il s'agit d'une pathologie multi-systémique présentant un tableau clinique varié. Parmi la pléthore de symptôme, sont comptées des manifestations neurocutanées telles que les taches « café-au-lait » (zone d'hyperpigmentation localisée) et les neurofibromes (tumeurs bénignes de la gaine périphérique de la myéline) mais également des défauts osseux et des troubles cognitifs. La pénétrance de NF1 est complète mais la manifestation et la sévérité des symptômes peuvent varier d'un individu à l'autre. Le gène NF1 responsable de la maladie, localisé sur le chromosome 17, est un gène suppresseur de tumeur qui code pour la neurofibromine. Dans le but de développer un modèle cellulaire humain pertinent pour l'étude des défauts osseux associés à NF1, nous avons utilisé des cellules souches induites à la pluripotence porteuse de la mutation causale NF1 (hiPS-NF1). Dans ces travaux, nous avons montré qu'une perte d'expression de la neurofibromine dans les ostéoblastes dérivés de hiPS-NF1 reproduisait le phénotype d'ostéogénèse réduite et qu'il était possible d'améliorer la capacité des hiPS-NF1 à se différencier en ostéoblaste à l'aide de molécules pharmacologiques. Toujours dans le but de proposer un modèle cellulaire humain le plus relevant possible, nous avons développé des lignées isogéniques avec la technologie CRISPR/Cas 9 afin d'étudier l'impact d'une perte partielle ou totale de l'expression de la neurofibromine sur le phénotype osseux. En parallèle, afin de pouvoir étudier un autre phénotype associé à NF1, un protocole de différenciation de cellules de Schwann sous culture définie en utilisant des facteurs de croissance et des molécules de signalisation, a partir des hiPS a été développé. Des cellules de Schwann-like ont été obtenues en 30 jours en engagement la différenciation des cellules souches vers la crête neurale afin d'induire l'émergence de précurseurs de cellules de Schwann par l'action de molécules telles que le récepteur de type I du TGF-ß (SB431542), l'hereguline ß1, l'IGF1, le FGF2 et un activateur de WNT3a (CHIR99021). L'analyse par q-PCR montre une augmentation des marqueurs de différents stades de différenciation de la cellule de Schwann : crête neurale (SOX10, ERBB3), cellules de Schwann précurseurs (MPZ, CAD19) et cellules de Schwann immatures (S100) au bout de 30 jours de différenciation. Ces résultats ont été complétés par l'analyse protéique des cellules différenciées et par la mise en co-culture de ces cellules avec des motoneurones différenciés à partir d'hiPS. L'ensemble de ce travail a permis de valider la pertinence de l'utilisation des cellules souches pluripotentes porteuses de mutation dans la modélisation de pathologie génétique. Permettant à plus long terme la recherche de molécules actives par des approches de de criblage pharmacologique ou par des approches de thérapie… Advisors/Committee Members: Onteniente, Brigitte (thesis director).

Subjects/Keywords: Neurofibromatose type 1; Modélisation pathologique; Ostéoblastes; Type 1 neurofibromatosis; Disease modelling; Osteoblasts

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Aubin, D. (2019). Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives : Neurofibromatosis disease modelling : development of a test study and applications for the discovery of active molecules. (Doctoral Dissertation). Université Paris-Saclay (ComUE). Retrieved from http://www.theses.fr/2019SACLE002

Chicago Manual of Style (16^th Edition):

Aubin, Deborah. “Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives : Neurofibromatosis disease modelling : development of a test study and applications for the discovery of active molecules.” 2019. Doctoral Dissertation, Université Paris-Saclay (ComUE). Accessed January 22, 2021. http://www.theses.fr/2019SACLE002.

MLA Handbook (7^th Edition):

Aubin, Deborah. “Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives : Neurofibromatosis disease modelling : development of a test study and applications for the discovery of active molecules.” 2019. Web. 22 Jan 2021.

Vancouver:

Aubin D. Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives : Neurofibromatosis disease modelling : development of a test study and applications for the discovery of active molecules. [Internet] [Doctoral dissertation]. Université Paris-Saclay (ComUE); 2019. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2019SACLE002.

Council of Science Editors:

Aubin D. Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives : Neurofibromatosis disease modelling : development of a test study and applications for the discovery of active molecules. [Doctoral Dissertation]. Université Paris-Saclay (ComUE); 2019. Available from: http://www.theses.fr/2019SACLE002

Leiden University

9. Zonneveld, Lisette van. Neuronal activity during working memory performance in the developing brain of children and adolescents with Neurofibromatosis Type 1.

Degree: 2011, Leiden University

URL: http://hdl.handle.net/1887/18331

► This study investigated an aspect of cognitive functioning or more specifically of executive functioning, that appears to be strongly affected in NF1: working memory. The… (more)

Subjects/Keywords: Neurofibromatosis Type 1; Cognitive functioning; Working memory; fMRI; Neuronal activity

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Zonneveld, L. v. (2011). Neuronal activity during working memory performance in the developing brain of children and adolescents with Neurofibromatosis Type 1. (Masters Thesis). Leiden University. Retrieved from http://hdl.handle.net/1887/18331

Chicago Manual of Style (16^th Edition):

Zonneveld, Lisette van. “Neuronal activity during working memory performance in the developing brain of children and adolescents with Neurofibromatosis Type 1.” 2011. Masters Thesis, Leiden University. Accessed January 22, 2021. http://hdl.handle.net/1887/18331.

MLA Handbook (7^th Edition):

Zonneveld, Lisette van. “Neuronal activity during working memory performance in the developing brain of children and adolescents with Neurofibromatosis Type 1.” 2011. Web. 22 Jan 2021.

Vancouver:

Zonneveld Lv. Neuronal activity during working memory performance in the developing brain of children and adolescents with Neurofibromatosis Type 1. [Internet] [Masters thesis]. Leiden University; 2011. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1887/18331.

Council of Science Editors:

Zonneveld Lv. Neuronal activity during working memory performance in the developing brain of children and adolescents with Neurofibromatosis Type 1. [Masters Thesis]. Leiden University; 2011. Available from: http://hdl.handle.net/1887/18331

University of Wisconsin – Milwaukee

10. Casnar, Christina. Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1.

Degree: PhD, Psychology, 2017, University of Wisconsin – Milwaukee

URL: https://dc.uwm.edu/etd/1591

► Social problems are a common concern of parents of children with Neurofibromatosis type 1 (NF1). There has been a recent surge of research examining… (more)

▼ Social problems are a common concern of parents of children with Neurofibromatosis type 1 (NF1). There has been a recent surge of research examining the prevalence of autism spectrum disorders (ASD) and ASD symptomatology in children with NF1. Findings from this relatively new body of research are mixed. The primary aim of this study was to examine ASD symptomatology in children with NF1 using a comprehensive assessment of ASD symptoms. A second aim was to examine possible variables that may contribute to socio-communicative difficulties. Participants included 25 children with NF1 between the ages of 9 and 13, along with their parent. Standardized parent-report questionnaires were used to assess social responsiveness and restrictive and repetitive behaviors (RRB; Social Responsiveness Scale, Second Edition: SRS-2) and ASD symptomatology (Social Communication Questionnaire: SCQ). Diagnostic assessment measures for ASD were used to examine the frequency and severity of ASD symptomatology (Autism Screening Interview: ASI, and Autism Diagnostic Observation Scale, Second Edition: ADOS-2). Selected measures were used to assess intellectual functioning, attention, social cognition, and pragmatic language. Overall, results indicate that 30% of parents observed mild to moderate social responsiveness difficulties and RRB on the SRS-2. However, no children met diagnostic criteria for ASD based on the combination of ASI and ADOS-2 classifications and very few RRB were reported by parents or observed by clinicians. Relations between social responsiveness and intellectual functioning, social information processing, and pragmatic language were found. Performance on a pragmatic language task uniquely explained 38% of the social responsiveness difficulties reported by parents. Results indicate that children with NF1 are demonstrating elevated ASD symptomatology per parent and clinician report; however, those difficulties are largely not severe nor pervasive enough to meet criteria for ASD. Advisors/Committee Members: Bonita P. Klein-Tasman.

Subjects/Keywords: Autism Spectrum Disorder; Children; Neurofibromatosis Type 1; Social Skills; Clinical Psychology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Casnar, C. (2017). Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1. (Doctoral Dissertation). University of Wisconsin – Milwaukee. Retrieved from https://dc.uwm.edu/etd/1591

Chicago Manual of Style (16^th Edition):

Casnar, Christina. “Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1.” 2017. Doctoral Dissertation, University of Wisconsin – Milwaukee. Accessed January 22, 2021. https://dc.uwm.edu/etd/1591.

MLA Handbook (7^th Edition):

Casnar, Christina. “Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1.” 2017. Web. 22 Jan 2021.

Vancouver:

Casnar C. Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1. [Internet] [Doctoral dissertation]. University of Wisconsin – Milwaukee; 2017. [cited 2021 Jan 22]. Available from: https://dc.uwm.edu/etd/1591.

Council of Science Editors:

Casnar C. Autism Spectrum Disorder Symptomatology in Children with Neurofibromatosis Type 1. [Doctoral Dissertation]. University of Wisconsin – Milwaukee; 2017. Available from: https://dc.uwm.edu/etd/1591

University of Sydney

11. Crawford, Hilda Annette. Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring .

Degree: 2016, University of Sydney

URL: http://hdl.handle.net/2123/17214

► Neurofibromatosis type 1 (NF1) is a common genetic disorder characterised by skin stigmata, benign and malignant tumours, neurological deficit, cognitive dysfunction and disfigurement. Disease expression… (more)

▼ Neurofibromatosis type 1 (NF1) is a common genetic disorder characterised by skin stigmata, benign and malignant tumours, neurological deficit, cognitive dysfunction and disfigurement. Disease expression is variable and complications unpredictable. Few studies have examined the quality-of-life (QOL) of adults with NF1. The aims of this study were to investigate the ways NF1 impacts on the health, wellbeing and QOL of adults by developing an adult disease specific QOL questionnaire, conducting an in depth exploration of adults’ life experiences and ascertaining their level of health care. A mixed methods cross-sectional study of Australian adults with NF1 (aged 18 - 40 years) was conducted. Item development of the adult NF1 specific QOL (NF1-AdQOL) questionnaire was based on existing literature and participant interviews. Adults (n = 114) completed the NF1-AdQOL, the Skindex-29 and the Short Form-36v2 QOL questionnaires, participated in a semi-structured interview (n = 94, 82%) and completed an evaluation of self-care (n = 87, 76%). An exploratory factor analysis and a multi-trait multi-method (MTMM) analysis were conducted to assess construct validity of the NF1-AdQOL. Internal consistency was measured using Cronbach’s alpha. Interview transcripts were analysed using grounded theory qualitative research methodology. Adults (68 females, 46 males) participated. Factor analysis of NF1-AdQOL items indicated that 62.7% of the common variance could be explained by three factors labelled as ‘emotions associated with cosmetic appearance’ (12 items), ‘social functioning and learning’ (11 items) and ‘symptoms’ (8 items). NF1-AdQOL demonstrated good internal consistency (Cronbach’s a coefficient = 0.96). MTMM results indicated that scales of the NF1-AdQOL had high convergent validity with similarly named scales of the other QOL questionnaires. Qualitative analysis identified cosmetic NF1 was of greatest concern to adults. Analysis of health monitoring behaviours indicated that half of participants had no regular health monitoring and had deficits in self-care. Findings provide preliminary evidence that NF1-AdQOL is a valid disease-specific tool to measure QOL in adults with NF1. Adults’ cosmetic concerns and patient education about the NF1 disorder should be addressed.

Subjects/Keywords: Neurofibromatosis type 1; NF1; Quality-of-life; Health monitoring; Disease impact

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Crawford, H. A. (2016). Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring . (Thesis). University of Sydney. Retrieved from http://hdl.handle.net/2123/17214

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Crawford, Hilda Annette. “Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring .” 2016. Thesis, University of Sydney. Accessed January 22, 2021. http://hdl.handle.net/2123/17214.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Crawford, Hilda Annette. “Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring .” 2016. Web. 22 Jan 2021.

Vancouver:

Crawford HA. Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring . [Internet] [Thesis]. University of Sydney; 2016. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/2123/17214.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Crawford HA. Neurofibromatosis Type 1 in Adulthood: Quality-of-Life, Life Experiences and Uptake of Health Monitoring . [Thesis]. University of Sydney; 2016. Available from: http://hdl.handle.net/2123/17214

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

IUPUI

12. Spence, John Paul. Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE.

Degree: 2011, IUPUI

URL: http://hdl.handle.net/1805/2521

►

Indiana University-Purdue University Indianapolis (IUPUI)

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that affects roughly 1 in 3500 individuals. In addition to physical features… (more)

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Indiana University-Purdue University Indianapolis (IUPUI)

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that affects roughly 1 in 3500 individuals. In addition to physical features (e.g., neurofibromas), developmental disorders are also common that can affect cognition, learning, attention and social function. The NF1 gene encodes neurofibromin, a GTPase activating protein (GAP)-like protein that negatively regulates Ras GTPase activation. Mutation at the NF1 locus increases the output of MAPK and PI3K signal transduction from the cellular membrane to the nucleus. Similar to humans, Nf1+/- mice show spatial learning abnormalities that are potentially correlated with increases in GABA-mediated inhibition and deficits in long-term potentiation in the hippocampus. Here, we demonstrate for the first time that Nf1+/- mice exhibit a selective loss of long-term social learning / memory and increased GABAergic inhibition in the basolateral amygdala, a critical brain region for regulating social behaviors. Next, utilizing a genetic intercross, we show that the co-deletion of p21-activated kinase type 1 (Pak1-/-), which positively regulates MAPK activation, restores Nf1+/ – dependent MAPK hyperactivation in neurons cultured from the frontal cortex. We found that the co-deletion of Pak1 in Nf1+/- mice (Nf1+/- / Pak1-/-) also restores the deficits in long-term social learning / memory seen in Nf1+/- mice and normalizes the increases in GABA-mediated inhibition in the BLA, as compared to Nf1+/- mice. Together, these findings establish a role for Nf1 and Pak1 genes in the regulation of social learning in Nf1-deficient mice. Furthermore, proteomic studies identify dysregulation of F-actin and microtubule dynamics in the prefrontal cortex, and implicate proteins associated with vesicular release as well as neurite formation and outgrowth (e.g., LSAMP, STXBP1, DREB). In the BLA, disintegrin and metalloproteinase domain-containing protein 22 (ADAM22) was identified, and ADAM22 may play a role in the regulation of AMPA receptors. Finally, due to the increased co-occurrence of NF1 and autism, these findings may also have important implications for the pathology and treatment of NF1-related social deficits and some forms of autism.

Advisors/Committee Members: Shekhar, Anantha, 1957-, Clapp, D. Wade, Johnson, Philip L., Yang, Feng-Chun.

Subjects/Keywords: Neurofibromatosis type 1 (NF1), social learning, p21-activated kinase 1 (PAK1), MAPK, prefrontal cortex, basolateral amygdala; Neurofibromatosis; Social learning; Prefrontal cortex

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Spence, J. P. (2011). Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE. (Thesis). IUPUI. Retrieved from http://hdl.handle.net/1805/2521

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Spence, John Paul. “Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE.” 2011. Thesis, IUPUI. Accessed January 22, 2021. http://hdl.handle.net/1805/2521.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Spence, John Paul. “Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE.” 2011. Web. 22 Jan 2021.

Vancouver:

Spence JP. Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE. [Internet] [Thesis]. IUPUI; 2011. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1805/2521.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Spence JP. Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE. [Thesis]. IUPUI; 2011. Available from: http://hdl.handle.net/1805/2521

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

13. Cuberos, Hélène. Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle : LIM kinases in neurofibromatosis type 1 : cellular and molecular characterization of LIMK2-1, an isoform associated with intellectual disability.

Degree: Docteur es, Sciences de la Vie et de la Santé, 2016, Université François-Rabelais de Tours

URL: http://www.theses.fr/2016TOUR3306

►

LIMK1 et LIMK2 sont des sérines/thréonine kinases capables de phosphoryler et d’inactiver la cofiline, un facteur de dépolymérisation de l’actine. Elles sont régulées négativement par… (more)

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LIMK1 et LIMK2 sont des sérines/thréonine kinases capables de phosphoryler et d’inactiver la cofiline, un facteur de dépolymérisation de l’actine. Elles sont régulées négativement par la neurofibromine, responsable de la neurofibromatose de type 1, et pourraient être impliquées à la fois dans les aspects tumoraux et cognitifs de cette maladie par leur rôle dans la dynamique de l’actine. Nous avons étudié l’isoforme LIMK2‐1 de LIMK2, spécifique des hominidés et précédemment associée à la déficience intellectuelle. Cette isoforme possède un domaine kinase tronqué et un domaine inhibiteur de la phosphatase 1 (PP1i) en C‐terminal. Nos résultats montrent, d’une part, que LIMK2‐1 existe sous forme de protéine et qu’elle est exprimée dans le système nerveux central chez l’homme, en particulier au cours du neurodéveloppement. D’autre part, il apparaît que cette isoforme favorise la polymérisation de l’actine. Cette action semble indépendant de l’activité kinase puisque LIMK2‐1 ne phosphoryle pas la cofiline. Nous avons également montré que le domaine PP1i interagissait spécifiquement avec la phosphatase 1 et des résultats complémentaires suggèrent un rôle de ce domaine dans l’inhibition de la dépolymérisation de l’actine. Ces données mettent en évidence un mécanisme moléculaire nouveau pour une protéine de la famille des LIMK et soulignent l’intérêt d’étudier ces protéines afin de mieux comprendre leur implication dans les troubles cognitifs et dans la neurofibromatose de type 1.

LIMK1 and LIMK2 are serine/threonine kinases that phosphorylate and subsequently inactivate cofilin, an actin-depolymerizing factor. Neurofibromin, the protein responsible for neurofibromatosis type 1, negatively regulates these proteins that may be involved in tumoral and cognitive aspects of the disease through their role in actin dynamics. We studied LIMK2-1, a hominidae-specific isoform previously involved in intellectual disability. This isoform possesses a truncated kinase domain and a protein phosphatase 1 inhibitory (PP1i) domain at its C-terminal extremity. Our results showed that LIMK2-1 exists at a protein level and that it is expressed in human central nervous system, especially during neurodevelopment. Moreover, LIMK2-1 promotes actin polymerization independently from a kinase activity, since this isoform does not phosphorylate cofiline. We also highlighted an interaction between the PP1i domain and protein phosphatase 1 and complementary results suggest a role of this domain in the inhibition of actin depolymerization. These data highlight a new molecular mechanism for a LIMK protein and emphasize the interest of studying these proteins to understand their involvement in cognitive disorders and in neurofibromatosis type 1.

Advisors/Committee Members: Andrès, Christian (thesis director), Benedetti, Hélène (thesis director).

Subjects/Keywords: Neurofibromatose de type 1; Déficience intellectuelle; LIMK2; LIMK2‐1; Cofiline; Actine; Neurofibromatosis type 1; Intellectual disability; LIMK2‐1; Cofilin; Actin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Cuberos, H. (2016). Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle : LIM kinases in neurofibromatosis type 1 : cellular and molecular characterization of LIMK2-1, an isoform associated with intellectual disability. (Doctoral Dissertation). Université François-Rabelais de Tours. Retrieved from http://www.theses.fr/2016TOUR3306

Chicago Manual of Style (16^th Edition):

Cuberos, Hélène. “Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle : LIM kinases in neurofibromatosis type 1 : cellular and molecular characterization of LIMK2-1, an isoform associated with intellectual disability.” 2016. Doctoral Dissertation, Université François-Rabelais de Tours. Accessed January 22, 2021. http://www.theses.fr/2016TOUR3306.

MLA Handbook (7^th Edition):

Cuberos, Hélène. “Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle : LIM kinases in neurofibromatosis type 1 : cellular and molecular characterization of LIMK2-1, an isoform associated with intellectual disability.” 2016. Web. 22 Jan 2021.

Vancouver:

Cuberos H. Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle : LIM kinases in neurofibromatosis type 1 : cellular and molecular characterization of LIMK2-1, an isoform associated with intellectual disability. [Internet] [Doctoral dissertation]. Université François-Rabelais de Tours; 2016. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2016TOUR3306.

Council of Science Editors:

Cuberos H. Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle : LIM kinases in neurofibromatosis type 1 : cellular and molecular characterization of LIMK2-1, an isoform associated with intellectual disability. [Doctoral Dissertation]. Université François-Rabelais de Tours; 2016. Available from: http://www.theses.fr/2016TOUR3306

Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ)

14. Batzios, Spyros. Διερεύνηση της έκφρασης μορίων του εξωκυττάριου χώρου σε ασθενείς με βλεννοπολυσακχαριδώσεις και νευροϊνωμάτωση τύπου Ι.

Degree: 2015, Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ)

URL: http://hdl.handle.net/10442/hedi/35697

► The aim of the present study was the assessment of the expression of various molecules of the Extracellular Matrix (ECM), such as matrix metalloproteinases (MMPs)… (more)

▼ The aim of the present study was the assessment of the expression of various molecules of the Extracellular Matrix (ECM), such as matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs), hyaluronic acid (HA) with the enzymes and receptors which are involved in its metabolism (HASs/HYALs/CD44/RHAMM), as well as some members of the proteoglycan family (PGs) in patients with Mucopolysaccharidoses (MPS) and Neurofibromatosis type I (NF1), with the goal to use those molecules as potential biomarkers for patients’ diagnosis and disease follow-up. Patients & Methods: The sample included 13 patients with MPSs (9 with MPS III, 3 with MPS II and 1 with MPS VI) and 45 patients with NF1, as well as an equal number of sex and age matched healthy subjects for the control group. Gelatinase activity (MMP-2, MMP-9) was measured with the use of gelatin zymography. The concentration of circulating ECM molecules was measured by ELISA, while their expression at the genetic level was assessed with the use of Real-Time RT-PCR. The enzyme activity of HYALs was measured with the use of hyaluronidase zymography. The levels of the studied molecules have been correlated with the presence of the NF1 diagnostic criteria and the results of the laboratory and radiological assessment. Results: MPSs MPS patients exchibited a statistically significant increase in the enzymatic activity and protein levels of MMP-2, while the same parameters have been decreased concerning MMP-9 expression. Following the initiation of enzyme replacement therapy, MMP-2 levels started decreasing and finally normalized after a 24 month period in MPS II patients. HA levels were significantly increased in all MPS types. In relation to PG expression, we detected an increase in the circulating levels of aggrecan, biglycan, decorin and syndecan-2, -3 and -4, while a reduction in the serum levels of syndecan-1 and versican was noted. Especially in the group of MPS III patients, circulating levels of syndecan-2 and decorin were significantly increased. NF1 NF1 patients had a statistically significant increase in the circulating levels of MMP-2, TIMP-1, TIMP-2 and MMP-9/TIMP-1. MMP-2 levels correlated with the age only in the patient group. No significant differences were found concerning the expression of HA and the enzymes/receptors which are involved in its metabolism. Syndecan-2, decorin and versican were increased in the serum of NF1 patients as well. Logistic regression analysis was performed to estimate the odds ratios (OR) of variables in the prediction of the presence of clinical/laboratory features of the disease. The increase of HA in the serum of patients increased significantly the risk of having UBOs in brain MRI. We also found that MMP-2 is positively associated with the presence of freckling. When patients were categorized based on their cognitive function, syndecan-3 and decorin were significantly increased in those who had mental retardation. Conclusions: The index study revealed the potential use of ECM molecules as biomarkers for MPSs and NF1.…

Subjects/Keywords: Βλεννοπολυσακχαριδώσεις; Νευροϊνωμάτωση τύπου 1; Εξωκυττάριος χώρος; Βιοδείκτες; Mucopolysaccharidoses; Neurofibromatosis type 1; Extracellular matrix; Biomarkers

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Batzios, S. (2015). Διερεύνηση της έκφρασης μορίων του εξωκυττάριου χώρου σε ασθενείς με βλεννοπολυσακχαριδώσεις και νευροϊνωμάτωση τύπου Ι. (Thesis). Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ). Retrieved from http://hdl.handle.net/10442/hedi/35697

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Batzios, Spyros. “Διερεύνηση της έκφρασης μορίων του εξωκυττάριου χώρου σε ασθενείς με βλεννοπολυσακχαριδώσεις και νευροϊνωμάτωση τύπου Ι.” 2015. Thesis, Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ). Accessed January 22, 2021. http://hdl.handle.net/10442/hedi/35697.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Batzios, Spyros. “Διερεύνηση της έκφρασης μορίων του εξωκυττάριου χώρου σε ασθενείς με βλεννοπολυσακχαριδώσεις και νευροϊνωμάτωση τύπου Ι.” 2015. Web. 22 Jan 2021.

Vancouver:

Batzios S. Διερεύνηση της έκφρασης μορίων του εξωκυττάριου χώρου σε ασθενείς με βλεννοπολυσακχαριδώσεις και νευροϊνωμάτωση τύπου Ι. [Internet] [Thesis]. Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ); 2015. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10442/hedi/35697.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Batzios S. Διερεύνηση της έκφρασης μορίων του εξωκυττάριου χώρου σε ασθενείς με βλεννοπολυσακχαριδώσεις και νευροϊνωμάτωση τύπου Ι. [Thesis]. Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ); 2015. Available from: http://hdl.handle.net/10442/hedi/35697

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

15. Tastet, Julie. Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale : Study of LIMK2 and RNF135, involved in neurofibromatosis type 1, in autism and mental deficiency.

Degree: Docteur es, Sciences de la Vie et de la Santé, 2012, Université François-Rabelais de Tours

URL: http://www.theses.fr/2012TOUR3311

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L'autisme et la déficience mentale (DM) sont des pathologies neurodéveloppementales fréquentes qui partagent des facteurs génétiques communs. Afin de mieux comprendre leur étiologie, nous avons… (more)

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L'autisme et la déficience mentale (DM) sont des pathologies neurodéveloppementales fréquentes qui partagent des facteurs génétiques communs. Afin de mieux comprendre leur étiologie, nous avons étudié les mécanismes moléculaires de la neurofibromatose de type 1 (NF1), qui est souvent associée à l'autisme et à la DM. La neurofibromine, dont le gène est muté dans la NF1 interagit avec LIMK2. Cette protéine fait partie de la voie des Rho-GTPases dont des mutations de plusieurs membres ont été trouvés mutés dans des cas d'autisme et de DM. Chez le rat, nous avons montré que l’expression de Limk2d, une isoforme sans domaine kinase, augmente la croissance des neurites des cellules neuronales NSC-34. Chez l'homme, LIMK2-1 est la seule isoforme qui comporte un domaine inhibiteur de la phosphatase 1 (PP1i). Nous avons montré que l’expression de cette protéine diminue la longueur des neurites des cellules NSC-34 in vitro. Nous avons observé l'association de la variation située dans le domaine PP1i à la DM (p.S668P, rs151191437) (p=0,04, test de Fisher, OR = 3,29). Elle abolit l’effet inhibiteur de croissance des neurites de l'isoforme LIMK2-1 diminue l'interaction de LIMK2-1 avec la neurofibromine. La fréquence de l'autisme est plus élevée chez les patients atteints ayant des délétions de 14 gènes du locus NF1. Nous avons observé une association entre la variation R115K (rs111902263) du gène RNF135 de ce locus et l'autisme (p=0,00014, test de Fisher) ainsi qu’une anomalie du nombre de copies située dans l'intron 2 de ce gène chez un d’entre eux. Ce travail souligne la spécificité de deux isoformes de LIMK2 sur la croissance des neurites. Il renforce l’intérêt d’étudier l’implication du gène RNF135 dans l’autisme. Des études fonctionnelles seront entreprises afin de confirmer le rôle de LIMK2 et de RNF135 dans l'étiologie de l'autisme et de la DM.

Autism and mental deficiency (MD) are two neurodevelopemental diseases which share genetic factors in common. To better understand their etiologies, we studied the molecular mechanisms of neurofibromatosis type 1, a pathology frequently associated with autism and MD. Neurofibromatosis type 1 is due to deletions or mutations of the NF1 gene which encodes neurofibromin. This protein interacts with several proteins such as LIMK2. This protein belongs to the Rho-GTPases pathway in wich mutations of numerous members have been associated with autism and MD. In our study, we showed that LIMK2 isoforms do not only have important structural differencies but have also functional specificities. Limk2d, which lacks the kinase domain, promotes neurite outgrowth of NSC-34 cells. On the contrary, LIMK2-1, which is primate specific and has a C-terminal PP1i domain, inhibits neurite outgrowth. Analysis of the LIMK2-1 coding sequence, revealed the association between MD and a variation located in the PP1i domain, S668P (rs151191437) (p=0.04, Fisher test, OR = 3.29). This variation abrogated the LIMK2-1 effect on neurite outgrowth and inhibited LIMK2-1 interaction with neurofibromin. Deletions…

Advisors/Committee Members: Andrès, Christian (thesis director), Benedetti, Hélène (thesis director).

Subjects/Keywords: Austisme; Déficience mentale; Neurofibromatose de type 1; LIMK2; Isoformes; Neuritogenèse; RNF135; Autism; Mental deficiency; Neurofibromatosis type 1; LIMK2; Isoforms; Neuritogenesis; RNF135

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Tastet, J. (2012). Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale : Study of LIMK2 and RNF135, involved in neurofibromatosis type 1, in autism and mental deficiency. (Doctoral Dissertation). Université François-Rabelais de Tours. Retrieved from http://www.theses.fr/2012TOUR3311

Chicago Manual of Style (16^th Edition):

Tastet, Julie. “Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale : Study of LIMK2 and RNF135, involved in neurofibromatosis type 1, in autism and mental deficiency.” 2012. Doctoral Dissertation, Université François-Rabelais de Tours. Accessed January 22, 2021. http://www.theses.fr/2012TOUR3311.

MLA Handbook (7^th Edition):

Tastet, Julie. “Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale : Study of LIMK2 and RNF135, involved in neurofibromatosis type 1, in autism and mental deficiency.” 2012. Web. 22 Jan 2021.

Vancouver:

Tastet J. Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale : Study of LIMK2 and RNF135, involved in neurofibromatosis type 1, in autism and mental deficiency. [Internet] [Doctoral dissertation]. Université François-Rabelais de Tours; 2012. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2012TOUR3311.

Council of Science Editors:

Tastet J. Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale : Study of LIMK2 and RNF135, involved in neurofibromatosis type 1, in autism and mental deficiency. [Doctoral Dissertation]. Université François-Rabelais de Tours; 2012. Available from: http://www.theses.fr/2012TOUR3311

16. Coutinho, Virginie. Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen) : Motor, cognitive, and behavioral difficulties in children and adolescents with neurofibromatosis type 1 (von Recklinghausen disease).

Degree: Docteur es, Psychologie, 2015, Sorbonne Paris Cité

URL: http://www.theses.fr/2015USPCB185

►

Les données de la littérature concernant les difficultés cognitives et comportementales dans la Neurofibromatose de type 1 (NF1) sont nombreuses avec des résultats parfois contradictoires.… (more)

▼

Les données de la littérature concernant les difficultés cognitives et comportementales dans la Neurofibromatose de type 1 (NF1) sont nombreuses avec des résultats parfois contradictoires. Après une revue de la littérature, ce travail de recherche : (i) décrit les difficultés comportementales, cognitives et motrices chez 78 patients atteints de NF1, âgés de 5 à 18 ans, au moyen de questionnaires aux parents (qualité de vie, impact de la maladie, difficultés des parents eux-mêmes, Conners, BRIEF, CBCL), et d'une évaluation de l'efficience intellectuelle et neuropsychologique détaillée ; (ii) analyse les relations entre les aspects cliniques, comportementaux, neuropsychologiques et l'imagerie (présence ou non d'« Objets Brillants Non Identifiés » caractéristiques de la NF1). Les difficultés d'apprentissage, malgré une qualité de vie plutôt bonne et un faible impact de la maladie, les troubles attentionnels et l'anxiété de l'enfant constituaient les principales sources d'inquiétude des parents. Les questionnaires étaient corrélés entre eux, mais ils étaient peu liés aux tests neuropsychologiques. La présence de difficultés cognitives spécifiques, en particulier visuo-spatiales et en motricité fine, a été confirmée. Aucune relation n'a pu être établie entre la neuropsychologie et l'imagerie. Les difficultés neuropsychologiques étaient plus sévères dans les formes familiales que sporadiques.

Cognitive and behavioral difficulties are common in children with Neurofibromatosis type 1 (NF1), however findings concerning the specific neuropsychological and behavioral profile as well as the association of these difficulties with clinical manifestations and brain imagery abnormalities are often contradictory. After a literature review, the present study: (i) describes behavioral, cognitive, and motor difficulties in 78 patients with NF1, aged 5 to 18 years, using parental questionnaires (quality of life, impact of illness, parental difficulties, Conners, BRIEF, CBCL), and tests of intellectual efficiency and specific neuropsychological functions; (ii) examines the relationships between clinical, behavioral, neuropsychological and imaging findings (presence or absence of "Unidentified Bright Objects" UBOs, characteristic feature of NF1). Learning disabilities, despite relatively good report of quality of life, attention disorders and child anxiety were the main parental concerns. All parental questionnaires were strongly inter-correlated, and associated with an overall positive or negative parental attitude during the interview with the psychologist. Parental concerns were only weakly related to neuropsychological tests. The presence of specific cognitive difficulties, particularly in visuospatial and fine motor skills, was confirmed. Imaging data were not associated with neuropsychological scores. Cognitive difficulties were more important in familial than sporadic forms.

Advisors/Committee Members: Dellatolas, Georges (thesis director).

Subjects/Keywords: Neurofibromatose de type 1; Enfant; Neuropsychologie; Comportement; Questionnaires aux parents; Neurofibromatosis type 1; Child; Neuropsychology; Behavior; Parental questionnaires; 150

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Coutinho, V. (2015). Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen) : Motor, cognitive, and behavioral difficulties in children and adolescents with neurofibromatosis type 1 (von Recklinghausen disease). (Doctoral Dissertation). Sorbonne Paris Cité. Retrieved from http://www.theses.fr/2015USPCB185

Chicago Manual of Style (16^th Edition):

Coutinho, Virginie. “Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen) : Motor, cognitive, and behavioral difficulties in children and adolescents with neurofibromatosis type 1 (von Recklinghausen disease).” 2015. Doctoral Dissertation, Sorbonne Paris Cité. Accessed January 22, 2021. http://www.theses.fr/2015USPCB185.

MLA Handbook (7^th Edition):

Coutinho, Virginie. “Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen) : Motor, cognitive, and behavioral difficulties in children and adolescents with neurofibromatosis type 1 (von Recklinghausen disease).” 2015. Web. 22 Jan 2021.

Vancouver:

Coutinho V. Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen) : Motor, cognitive, and behavioral difficulties in children and adolescents with neurofibromatosis type 1 (von Recklinghausen disease). [Internet] [Doctoral dissertation]. Sorbonne Paris Cité; 2015. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2015USPCB185.

Council of Science Editors:

Coutinho V. Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen) : Motor, cognitive, and behavioral difficulties in children and adolescents with neurofibromatosis type 1 (von Recklinghausen disease). [Doctoral Dissertation]. Sorbonne Paris Cité; 2015. Available from: http://www.theses.fr/2015USPCB185

Vanderbilt University

17. Tahaei, Seyedmohammad Ebrahim. Molecular Bases of the Reduced Osteogenic Differentiation Potential in Nf1 Deficient Osteoprogenitors.

Degree: PhD, Pharmacology, 2018, Vanderbilt University

URL: http://hdl.handle.net/1803/10471

► Neurofibromatosis type 1 results from mutations in NF1, a gene that encodes Neurofibromin. This common genetic condition is associated with tibial pseudarthrosis (PA), whose etiology… (more)

Subjects/Keywords: RNA-Seq; Neurofibromatosis type 1; Bone marrow stroll cells; Differentiation; MAPK signaling; Epiregulin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Tahaei, S. E. (2018). Molecular Bases of the Reduced Osteogenic Differentiation Potential in Nf1 Deficient Osteoprogenitors. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10471

Chicago Manual of Style (16^th Edition):

Tahaei, Seyedmohammad Ebrahim. “Molecular Bases of the Reduced Osteogenic Differentiation Potential in Nf1 Deficient Osteoprogenitors.” 2018. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/10471.

MLA Handbook (7^th Edition):

Tahaei, Seyedmohammad Ebrahim. “Molecular Bases of the Reduced Osteogenic Differentiation Potential in Nf1 Deficient Osteoprogenitors.” 2018. Web. 22 Jan 2021.

Vancouver:

Tahaei SE. Molecular Bases of the Reduced Osteogenic Differentiation Potential in Nf1 Deficient Osteoprogenitors. [Internet] [Doctoral dissertation]. Vanderbilt University; 2018. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/10471.

Council of Science Editors:

Tahaei SE. Molecular Bases of the Reduced Osteogenic Differentiation Potential in Nf1 Deficient Osteoprogenitors. [Doctoral Dissertation]. Vanderbilt University; 2018. Available from: http://hdl.handle.net/1803/10471

Vanderbilt University

18. Karolak, Matthew Ross. Neurofibromin Regulated Signaling Pathways in Endochondral Ossification.

Degree: PhD, Pharmacology, 2015, Vanderbilt University

URL: http://hdl.handle.net/1803/12844

► Neurofibromatosis type 1 (NF1) is the most common autosomal dominant genetic disorder occurring in 1 of every 3500 live births. NF1 is caused by loss-of-function… (more)

Subjects/Keywords: Dwarfism; FGFR1; NF1; Neurofibromatosis Type 1; Growth Plate; Chondrocyte; Fracture Healing; Neurofibromin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Karolak, M. R. (2015). Neurofibromin Regulated Signaling Pathways in Endochondral Ossification. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/12844

Chicago Manual of Style (16^th Edition):

Karolak, Matthew Ross. “Neurofibromin Regulated Signaling Pathways in Endochondral Ossification.” 2015. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/12844.

MLA Handbook (7^th Edition):

Karolak, Matthew Ross. “Neurofibromin Regulated Signaling Pathways in Endochondral Ossification.” 2015. Web. 22 Jan 2021.

Vancouver:

Karolak MR. Neurofibromin Regulated Signaling Pathways in Endochondral Ossification. [Internet] [Doctoral dissertation]. Vanderbilt University; 2015. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/12844.

Council of Science Editors:

Karolak MR. Neurofibromin Regulated Signaling Pathways in Endochondral Ossification. [Doctoral Dissertation]. Vanderbilt University; 2015. Available from: http://hdl.handle.net/1803/12844

University of Cincinnati

19. Azage, Meron Y., B.S. Fracture Rates in Adults with Neurofibromatosis Type 1.

Degree: MS, Medicine: Genetic Counseling, 2012, University of Cincinnati

URL: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142

► About 30-50% of patients with Neurofibromatosis Type 1 (NF1) have disease involving the skeletal system. Osteoporosis and low bone density are common findings; however increased… (more)

Subjects/Keywords: Genetics; Neurofibromatosis Type 1 (NF1); Adult; Fractures; Bone; Bone Mineral Density (BMD); Calcium

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Azage, Meron Y., B. S. (2012). Fracture Rates in Adults with Neurofibromatosis Type 1. (Masters Thesis). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142

Chicago Manual of Style (16^th Edition):

Azage, Meron Y., B S. “Fracture Rates in Adults with Neurofibromatosis Type 1.” 2012. Masters Thesis, University of Cincinnati. Accessed January 22, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142.

MLA Handbook (7^th Edition):

Azage, Meron Y., B S. “Fracture Rates in Adults with Neurofibromatosis Type 1.” 2012. Web. 22 Jan 2021.

Vancouver:

Azage, Meron Y. BS. Fracture Rates in Adults with Neurofibromatosis Type 1. [Internet] [Masters thesis]. University of Cincinnati; 2012. [cited 2021 Jan 22]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142.

Council of Science Editors:

Azage, Meron Y. BS. Fracture Rates in Adults with Neurofibromatosis Type 1. [Masters Thesis]. University of Cincinnati; 2012. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142

University of Cincinnati

20. Grandine, Hayley. Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease.

Degree: MS, Medicine: Genetic Counseling, 2016, University of Cincinnati

URL: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629

► Dual or multiple genetic diagnoses, although uncommon, are anecdotally evident from clinical geneticists and genetic counselors, and are found in 1% of individuals who undergo… (more)

Subjects/Keywords: Genetics; Neurofibromatosis Type 1; Dual Diagnosis; Genetic Disease; Emotional Impact; Life Experiences

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Grandine, H. (2016). Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease. (Masters Thesis). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629

Chicago Manual of Style (16^th Edition):

Grandine, Hayley. “Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease.” 2016. Masters Thesis, University of Cincinnati. Accessed January 22, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629.

MLA Handbook (7^th Edition):

Grandine, Hayley. “Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease.” 2016. Web. 22 Jan 2021.

Vancouver:

Grandine H. Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease. [Internet] [Masters thesis]. University of Cincinnati; 2016. [cited 2021 Jan 22]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629.

Council of Science Editors:

Grandine H. Patient and Parent Experiences of Dual Genetic Diagnoses: Neurofibromatosis Type 1 and an Additional Genetic Disease. [Masters Thesis]. University of Cincinnati; 2016. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459528629

Freie Universität Berlin

21. Titze, Sabrina. Impact of epigenetic modifications on the phenotypic variability of neurofibromatosis type 1.

Degree: 2011, Freie Universität Berlin

URL: http://dx.doi.org/10.17169/refubium-5510

► Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by heterozygotic inactivation of the NF1 tumor suppressor gene at 17q11.2. The associated phenotypes… (more)

▼ Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by heterozygotic inactivation of the NF1 tumor suppressor gene at 17q11.2. The associated phenotypes are highly variable, and modifying genes have been proposed to explain at least in part the intriguing expressivity. Mismatch repair deficiency was shown to cause NF1 mutations, but constitutional mutation of mismatch repair genes was identified only once in a NF1 patient. This study aimed to analyze whether DNA methylation of mismatch repair gene promoters, known to lead to transcriptional silencing, is associated with increased tumor load in NF1 defined by the number of cutaneous neurofibromas. Leukocyte DNA of 79 controls and 79 NF1 patients was investigated for methylation of mismatch repair genes MLH1, MSH2, MSH6, and PMS2 by methylation-specific PCR and pyrosequencing. Given that haploinsufficiency of the NF1 gene product neurofibromin is responsible for some of the clinical manifestations, variations in expression of the wildtype NF1 allele might modify the phenotype. Therefore, in a second approach, epigenetic molecular modifications that could result in variable expression of the normal NF1 allele were investigated. To exclude confounding by DNA sequence variations, monozygotic twin pairs with NF1 who presented with several discordant features were analyzed. The methylation pattern of a nearly 1 kb NF1 promoter region in lymphocytes of 9 twin pairs were fine-mapped. MLH1, MSH6, and PMS2 promoters were not methylated. By contrast, promoter methylation of MSH2 with a higher rate of methylation in NF1 patients compared with controls was found. Furthermore, when comparing NF1 patients with a low vs those with a high number of cutaneous neurofibromas, MSH2 promoter methylation was significantly different. In patients with a high tumor burden, methylation of two (out of six) CpGs was enhanced. All twin pairs showed significant intra-pair differences in methylation, especially of specific promoter subregions. Furthermore, significant intra-pair differences in cytosine methylation were detected for the region from -249 to -234 with regard to discordance for optic glioma with a higher grade of methylation in glioma cases. In conclusion, enhanced methylation involving transcription start points of mismatch repair genes, such as MSH2, may lead to variable mismatch repair capacity and may play a role as modifier of neurofibromatosis type 1. Second, the findings of epigenetic differences of the NF1 promoter in leukocytes within monozygotic twin pairs may serve as a proof of principle for other tissues. The results point towards a role of methylation patterns of the normal NF1 allele for expression differences and for modification of the NF1 phenotype. Advisors/Committee Members: w (gender), Prof. Dr. med. G. Stoltenburg-Didinger (firstReferee), Prof. Dr. med. T. Rosenbaum (furtherReferee), Prof. Dr. med. K. Wimmer (furtherReferee).

Subjects/Keywords: neurofibromatosis type 1 (NF1); mismatch repair; promoter; methylation; modifier; monozygotic twins; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Titze, S. (2011). Impact of epigenetic modifications on the phenotypic variability of neurofibromatosis type 1. (Thesis). Freie Universität Berlin. Retrieved from http://dx.doi.org/10.17169/refubium-5510

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Titze, Sabrina. “Impact of epigenetic modifications on the phenotypic variability of neurofibromatosis type 1.” 2011. Thesis, Freie Universität Berlin. Accessed January 22, 2021. http://dx.doi.org/10.17169/refubium-5510.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Titze, Sabrina. “Impact of epigenetic modifications on the phenotypic variability of neurofibromatosis type 1.” 2011. Web. 22 Jan 2021.

Vancouver:

Titze S. Impact of epigenetic modifications on the phenotypic variability of neurofibromatosis type 1. [Internet] [Thesis]. Freie Universität Berlin; 2011. [cited 2021 Jan 22]. Available from: http://dx.doi.org/10.17169/refubium-5510.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Titze S. Impact of epigenetic modifications on the phenotypic variability of neurofibromatosis type 1. [Thesis]. Freie Universität Berlin; 2011. Available from: http://dx.doi.org/10.17169/refubium-5510

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Brandeis University

22. Robart, Sarah. Investigating Genetic Counselors' Experiences with Legius Syndrome.

Degree: 2012, Brandeis University

URL: http://hdl.handle.net/10192/68

► Legius syndrome (LS), caused by mutations in SPRED1, is a recently identified condition characterized primarily by multiple café-au-lait macules and skin fold freckling, findings that… (more)

▼ Legius syndrome (LS), caused by mutations in SPRED1, is a recently identified condition characterized primarily by multiple café-au-lait macules and skin fold freckling, findings that are also among the diagnostic criteria for Neurofibromatosis type 1 (NF1). Previously, many individuals presenting only with these cutaneous manifestations were diagnosed clinically with NF1 until molecular studies identified SPRED1 mutations in them. The aim of this study was to investigate the clinical experiences of genetic counselors with this newly identified patient population. We used an anonymous, online survey to collect information regarding health care providers’ experiences with LS, their discussions with patients describing the genetics and clinical impact of the condition, and perceived patient reactions to a change in diagnosis from NF1 to LS. A total of 175 individuals, primarily genetic counselors, responded, of whom 19 had seen a patient with a molecular diagnosis of the condition and 50 had discussed LS as a potential diagnosis. There was inter- and intra-clinic variability of clinical versus molecular methods of diagnosis, as well as clinical management after a SPRED1 mutation is identified. The majority of participants decrease patient management to annual physical exams after the change in diagnosis; however, some follow the patient as if he or she had NF1. Participants did not frequently discuss reproductive options or some of the rarer but serious reported manifestations of LS. Nearly half of participants did not provide patients with resources, likely because few currently exist. When transitioning diagnoses from clinical NF1 to molecular LS, participants reported that patients reacted primarily with relief at the comparatively milder phenotype, while the lack of longitudinal data caused frustration and anxiety in some. These findings suggest a lack of consistency in genetic counseling and clinical management of patients with Legius syndrome which may impact the care of this emerging patient population.

Subjects/Keywords: Legius syndrome; SPRED1; Neurofibromatosis type 1; NF1; genetic counselors; skin fold freckling; café-au-lait macules

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APA (6^th Edition):

Robart, S. (2012). Investigating Genetic Counselors' Experiences with Legius Syndrome. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/68

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Robart, Sarah. “Investigating Genetic Counselors' Experiences with Legius Syndrome.” 2012. Thesis, Brandeis University. Accessed January 22, 2021. http://hdl.handle.net/10192/68.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Robart, Sarah. “Investigating Genetic Counselors' Experiences with Legius Syndrome.” 2012. Web. 22 Jan 2021.

Vancouver:

Robart S. Investigating Genetic Counselors' Experiences with Legius Syndrome. [Internet] [Thesis]. Brandeis University; 2012. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10192/68.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Robart S. Investigating Genetic Counselors' Experiences with Legius Syndrome. [Thesis]. Brandeis University; 2012. Available from: http://hdl.handle.net/10192/68

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cincinnati

23. Johansson, L. Gunnar. Identification of Targeted Therapeutics for Malignant Peripheral Nerve Sheath Tumors.

Degree: PhD, Medicine : Cell and Molecular Biology, 2008, University of Cincinnati

URL: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1216841242

► Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders, affecting 1 in 3,500 worldwide. The hallmark of NF1 is the expression… (more)

Subjects/Keywords: Cellular Biology; Neurofibromatosis type 1; NF1; MPNST; mTOR; Cancer

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Johansson, L. G. (2008). Identification of Targeted Therapeutics for Malignant Peripheral Nerve Sheath Tumors. (Doctoral Dissertation). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1216841242

Chicago Manual of Style (16^th Edition):

Johansson, L Gunnar. “Identification of Targeted Therapeutics for Malignant Peripheral Nerve Sheath Tumors.” 2008. Doctoral Dissertation, University of Cincinnati. Accessed January 22, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1216841242.

MLA Handbook (7^th Edition):

Johansson, L Gunnar. “Identification of Targeted Therapeutics for Malignant Peripheral Nerve Sheath Tumors.” 2008. Web. 22 Jan 2021.

Vancouver:

Johansson LG. Identification of Targeted Therapeutics for Malignant Peripheral Nerve Sheath Tumors. [Internet] [Doctoral dissertation]. University of Cincinnati; 2008. [cited 2021 Jan 22]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1216841242.

Council of Science Editors:

Johansson LG. Identification of Targeted Therapeutics for Malignant Peripheral Nerve Sheath Tumors. [Doctoral Dissertation]. University of Cincinnati; 2008. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1216841242

24. Hinman, Melissa N. The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing.

Degree: PhD, Genetics, 2014, Case Western Reserve University School of Graduate Studies

URL: http://rave.ohiolink.edu/etdc/view?acc_num=case1390500738

► Neurofibromatosis type 1 (NF1), a common human genetic disease affecting the nervous system, is characterized by phenotypes ranging from increased tumor susceptibility to learning… (more)

▼ Neurofibromatosis type 1 (NF1), a common human genetic disease affecting the nervous system, is characterized by phenotypes ranging from increased tumor susceptibility to learning disabilities. The NF1 gene inactivates the oncogene Ras through its GTPase activating protein (GAP) domain. NF1 alternative exon 23a is located within the GAP domain and is regulated by a number of factors, including the Hu family of RNA-binding proteins, to be skipped in brain but included in other tissues. To study the molecular and biological functions of this regulated splicing event, we engineered mouse embryonic stem (ES) cells either with endogenous Nf1 exon 23a deleted (Nf1 23aΔ/23aΔ cells) or with the splicing signals surrounding Nf1 exon 23a mutated to more closely match consensus sequences (Nf1 23aIN/23aIN cells) such that the exon is constitutively included. Both as ES cells and as ES cell-derived neurons, Nf1 23aIN/23aIN mutants have higher levels of active Ras than Nf1 23aΔ/23aΔ cells. In addition, Nf1 23aIN/23aIN neurons have elevated levels of phosphorylated ERK1/2 downstream of Ras. We generated Nf1 23aIN/23aIN mice with constitutive Nf1 exon 23a inclusion in all tissues, and found increased Ras activation in their brains. Taken together, these results strongly suggest that the regulated inclusion of Nf1 exon 23a modulates Ras signaling both in cells and in mice. Nf1 23aIN/23aIN mice are viable and will serve as useful tools for studying the roles of Nf1 alternative splicing in processes such as learning and tumor suppression. Given the functional importance of NF1 exon 23a, we also studied the mechanisms by which its inclusion is regulated by HuC, an Hu protein family member. Specifically, we used deletion mutants to study how the domains of HuC, a poorly characterized splicing regulator, contribute to the regulation of NF1 exon 23a and two other alternative exons. We found that the HuC N-terminal region is dispensable for splicing regulation, the three RNA recognition motifs (RRMs) are required for splicing regulation, and the hinge region is required for optimal regulation of only some splicing targets. RRM1 and RRM2 recognize and bind to RNA targets, while the hinge region and RRM3 contribute to HuC-HuC self interaction. Advisors/Committee Members: Lou, Hua (Advisor), Luo, Guangbin (Advisor), Salz, Helen (Committee Chair).

Subjects/Keywords: Genetics; Biology; Biomedical Research; Molecular Biology; Neurosciences; Neurofibromatosis type 1; NF1; Alternative splicing; Hu proteins; HuC; ELAVL3; ELAVL proteins

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Hinman, M. N. (2014). The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing. (Doctoral Dissertation). Case Western Reserve University School of Graduate Studies. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=case1390500738

Chicago Manual of Style (16^th Edition):

Hinman, Melissa N. “The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing.” 2014. Doctoral Dissertation, Case Western Reserve University School of Graduate Studies. Accessed January 22, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1390500738.

MLA Handbook (7^th Edition):

Hinman, Melissa N. “The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing.” 2014. Web. 22 Jan 2021.

Vancouver:

Hinman MN. The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing. [Internet] [Doctoral dissertation]. Case Western Reserve University School of Graduate Studies; 2014. [cited 2021 Jan 22]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=case1390500738.

Council of Science Editors:

Hinman MN. The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing. [Doctoral Dissertation]. Case Western Reserve University School of Graduate Studies; 2014. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=case1390500738

University of Cincinnati

25. RANGWALA, FATIMA ABDULLA. RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1.

Degree: PhD, Medicine : Interdisciplinary (Medical Science Scholars, Neuroscience), 2003, University of Cincinnati

URL: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1069774794

► Patients with Neurofibromatosis Type 1 (NF1) carry a germline mutation in the NF1 gene and have an increased risk for developing a variety of benign… (more)

▼ Patients with Neurofibromatosis Type 1 (NF1) carry a germline mutation in the NF1 gene and have an increased risk for developing a variety of benign and malignant tumors. Neurofibromin, the protein encoded by the NF1 gene, is a GTPase activating protein that negatively regulates Ras activity. NF1 -deficient tumors display elevated levels of Ras-GTP suggesting that inappropriate Ras activation contributes to tumor formation. While many abnormal phenotypes of NF1 mutant cells can be ascribed to H-, N-, and K-Ras-GTP excess, Ras-independent phenotypes have been described. The major objective of this work is to explore the contribution of Ras-dependent and Ras-independent signaling pathways to tumor formation in neurofibromin deficient cells. The first set of studies demonstrates that Schwann cells derived from Nf1 null mice have enhanced migration in comparison to wildtype controls. Nf1 -/- mouse Schwann cell migration is not reversed by inhibition of the classical Ras proteins, suggesting that migration is independent of their increased H-, N-, and/or K-Ras activation. We find that TC21/R-Ras2 and its downstream effectors play a role in the migration of neurofibromin-deficient Schwann cells. These studies are the first to implicate TC21 activity in benign tumor formation. The second set of studies investigates Ras signaling in the context of malignant transformation in NF1. NF1 patients are at a greater risk for the development of malignant peripheral nerve sheath tumors (MPNST) than the general population. We hypothesize that a NF1 -specific pathway contributes to the pathogenesis of NF1-associated MPNST. To better understand the molecular events involved in MPNST formation, we characterize 6 NF1-associated MPNST cell lines, 2 sporadic MPNST lines, and 7 normal human Schwann cell samples. We demonstrated that NF1-associated MPNSTs, but not sporadic MPNSTs, had elevated levels of Ras-GTP and loss of p16 ^INK4a expression. Ras-GTP levels of NF1-associated MPNSTs correlate with their rates of proliferation. In addition, we identify a molecular signature that distinguishes NF1-associated MPNSTs from sporadic MPNSTs. Taken together, these data reveal that each of the Ras isoforms contributes to different aspects of NF1 tumor formation. Advisors/Committee Members: Ratner, Dr. Nancy (Advisor).

Subjects/Keywords: neurofibromatosis Type 1; Schwann Cell; RAS; MPNST; microarray

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

RANGWALA, F. A. (2003). RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1. (Doctoral Dissertation). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1069774794

Chicago Manual of Style (16^th Edition):

RANGWALA, FATIMA ABDULLA. “RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1.” 2003. Doctoral Dissertation, University of Cincinnati. Accessed January 22, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1069774794.

MLA Handbook (7^th Edition):

RANGWALA, FATIMA ABDULLA. “RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1.” 2003. Web. 22 Jan 2021.

Vancouver:

RANGWALA FA. RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1. [Internet] [Doctoral dissertation]. University of Cincinnati; 2003. [cited 2021 Jan 22]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1069774794.

Council of Science Editors:

RANGWALA FA. RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1. [Doctoral Dissertation]. University of Cincinnati; 2003. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1069774794

University of Florida

26. Loda, Rebecca. Analysis of NF1 Mutation Mechanisms.

Degree: PhD, Medical Sciences - Genetics (IDP), 2009, University of Florida

URL: https://ufdc.ufl.edu/UFE0024364

► ANALYSIS OF NF1 MUTATION MECHANISMS By Rebecca L. Loda-Hutchinson May 2009 Chair: Margaret R. Wallace Major: Medical Sciences?Genetics Neurofibromin is a large protein encoded by… (more)

▼ ANALYSIS OF NF1 MUTATION MECHANISMS By Rebecca L. Loda-Hutchinson May 2009 Chair: Margaret R. Wallace Major: Medical Sciences?Genetics Neurofibromin is a large protein encoded by the NF1 gene, whose best understood function is as a down-regulator of the RAS signaling pathway, leading to NF1?s classification as a tumor suppressor gene. NF1 gene mutations, which occur at a rate 10x higher then the genome average, lead to the autosomal dominant disorder neurofibromatosis 1 (NF1). NF1 has variable expressivity and is clinically diagnosed using seven diagnostic criteria, of which the key features are cafe acute-au-lait spots, neurofibromas, Lisch nodules, and skin fold freckling. Genetic diagnosis is difficult, as the gene is very large and very few mutations are recurrent. Additionally, many NF1 phenotypes are believed to originate with a second mutation in the wild type allele in specific cell types. To gain insight into mutation mechanisms in NF1, I pursued three projects. First, I analyzed the rate of somatic C to T mutations at four hotspots for germline mutations. The methylation status of these sites in somatic cells makes them susceptible to C to T transitions; however no such mutations were identified in 123 neurofibromas. Next, the alternative splicing of exon23a, the inclusion of which reduces neurofibromin?s RAS-GAP function, was examined in various tissue types and tumors. Transcripts containing exon23a (Type II mRNA) are predominant in most tumors; mRNA lacking exon23a (Type I) is predominant in blood leukocytes. While previously reported in tumors containing increased Type II mRNA, no RNA editing was observed in the tumors in this study. Finally, I tested the accuracy of computational methods at predicting the effects of NF1 missense mutations (pathogenic versus neutral). These programs are needed clinically since mutations can not be tested functionally. No program was 100% accurate, but each had advantages in different situations. This work contributes to the knowledge in NF1, toward a goal of targeted therapies and improved diagnosis. ( en ) Advisors/Committee Members: Wallace, Margaret R. (committee chair), Driscoll, Daniel J. (committee member), Robertson, Keith D. (committee member), Sayeski, Peter P. (committee member).

Subjects/Keywords: Exons; Genetic mutation; Hum; Messenger RNA; Neurofibroma; Neurofibromatosis 1; Neurofibromatosis 1 genes; Pathos; Schwann cells; Tumors

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Loda, R. (2009). Analysis of NF1 Mutation Mechanisms. (Doctoral Dissertation). University of Florida. Retrieved from https://ufdc.ufl.edu/UFE0024364

Chicago Manual of Style (16^th Edition):

Loda, Rebecca. “Analysis of NF1 Mutation Mechanisms.” 2009. Doctoral Dissertation, University of Florida. Accessed January 22, 2021. https://ufdc.ufl.edu/UFE0024364.

MLA Handbook (7^th Edition):

Loda, Rebecca. “Analysis of NF1 Mutation Mechanisms.” 2009. Web. 22 Jan 2021.

Vancouver:

Loda R. Analysis of NF1 Mutation Mechanisms. [Internet] [Doctoral dissertation]. University of Florida; 2009. [cited 2021 Jan 22]. Available from: https://ufdc.ufl.edu/UFE0024364.

Council of Science Editors:

Loda R. Analysis of NF1 Mutation Mechanisms. [Doctoral Dissertation]. University of Florida; 2009. Available from: https://ufdc.ufl.edu/UFE0024364

Universidade do Rio Grande do Sul

27. Bueno, Larissa Souza Mario. Vitamina D, polimorfismos do gene VDR e neurofibromatose 1.

Degree: 2012, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/52955

►

Introdução: A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante causada por mutação no gene NF1 (17q11.2; proteína neurofibromina). A incidência é de… (more)

▼

Introdução: A Neurofibromatose tipo 1 (NF1) é uma doença genética autossômica dominante causada por mutação no gene NF1 (17q11.2; proteína neurofibromina). A incidência é de aproximadamente 1:3500 recém-nascidos e o diagnóstico clínico é possível na maioria dos casos. Alguns estudos sugeriram que pacientes com NF1 são mais suscetíveis a apresentar deficiência de vitamina D quando comparados à população geral. Objetivo: Determinar os níveis de 25(OH)D em indivíduos com NF1 e em controles saudáveis. Nos pacientes com NF1 nos também avaliamos o fenótipo clínico e analisamos polimorfismos comuns do gene VDR (BsmI e FokI) para avaliar se estavam correlacionados com os níveis de 25(OH)D. Métodos: Estudo de caso-controle que incluiu 45 pacientes com NF1 do Sul do Brasil e 45 controles saudáveis pareados por idade, sexo e tipo de pele de acordo com a classificação de Fitzpatrick. Resultados e Conclusões: Setenta e sete vírgula oito por cento dos 90 sujeitos de pesquisa apresentaram níveis de 25(OH)D abaixo de 30ng/ml. Deficiência de 25(OH)D (<20ng/mL) foi observada em 28 (31,1%) e insuficiência (de 20 a 30ng/mL) em 42 (46,6%). Deficiência ou insuficiência de 25(OH)D não foi mais frequente em pacientes com NF1 do que em controles (p=0,074). Nos não observamos qualquer associação entre os polimorfismos do gene VDR e os níveis de vitamina D sugerindo que o fenótipo da insuficiência ou deficiência bioquímica de 25(OH)D nos pacientes estudados não está associado com essas variantes genéticas.

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene (17q11.2, neurofibromin). The estimated incidence is approximately 1:3500 newborns and clinical diagnosis is possible in the majority cases. A few studies suggest that patients with NF1 are more likely to have vitamin D deficiency when compared to the general population. Objectives: The goal of the study was to determine the levels of 25-OH-vitamin D [25(OH)D] in individuals with NF1 and disease-unaffected controls. In NF1 patients we also assessed clinical phenotype and analyzed common VDR gene polymorphisms (BsmI and FokI) to verify whether they were associated with lower vitamin D levels. Methods: Case-control study that included 45 NF1 patients from Southern Brazil and 45 healthy controls matched by sex, skin type and age to the cases. Results and conclusions: Overall, 70 (77.8%) of the individuals studied had levels of 25(OH)D below 30ng/ml: vitamin D deficiency was observed in 28 (31.1%) and vitamin D insufficiency in 42 (46.6%) subjects. 25(OH)D deficiency or insufficiency were not more frequent in NF1 patients than in controls (p=0,074). We did not observe an association of VDR gene polymorphisms and vitamin D levels suggesting that the insufficient or deficient biochemical phenotypes in the patients studied here are not associated with these genetic variants.

Advisors/Committee Members: Prolla, Patrícia Ashton.

Subjects/Keywords: Vitamina D; Neurofibromatosis type 1; Polimorfismo genético; Vitamin D; Neurofibromatose 1; Neurofibromas; Hypovitaminosis D; Deficiência de vitamina D; BsmI e FokI Polymorphism; VDR gene; Human; Brazil

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APA (6^th Edition):

Bueno, L. S. M. (2012). Vitamina D, polimorfismos do gene VDR e neurofibromatose 1. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/52955

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Bueno, Larissa Souza Mario. “Vitamina D, polimorfismos do gene VDR e neurofibromatose 1.” 2012. Thesis, Universidade do Rio Grande do Sul. Accessed January 22, 2021. http://hdl.handle.net/10183/52955.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Bueno, Larissa Souza Mario. “Vitamina D, polimorfismos do gene VDR e neurofibromatose 1.” 2012. Web. 22 Jan 2021.

Vancouver:

Bueno LSM. Vitamina D, polimorfismos do gene VDR e neurofibromatose 1. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2012. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10183/52955.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Bueno LSM. Vitamina D, polimorfismos do gene VDR e neurofibromatose 1. [Thesis]. Universidade do Rio Grande do Sul; 2012. Available from: http://hdl.handle.net/10183/52955

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Sul

28. Protas, Júlia Schneider. Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1.

Degree: 2016, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/149459

►

Base teórica: A qualidade de vida é uma variável amplamente estudada nas ciências da saúde e tem se tornado, cada vez mais, um indicativo importante… (more)

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Base teórica: A qualidade de vida é uma variável amplamente estudada nas ciências da saúde e tem se tornado, cada vez mais, um indicativo importante na avaliação dos estados e desfechos de saúde. As doenças crônicas se caracterizam por curso prolongado, por vezes acompanhando o portador por toda sua vida, o que pode influenciar a percepção que o indivíduo tem de si mesmo e de sua vida. A Neurofibromatose tipo 1 (NF1) é uma doença crônica, genética, que atinge cerca de 1:3500 nascimentos. Além de ser uma doença que acarreta uma maior predisposição ao desenvolvimento de tumores, a NF1 possui sintomas físicos de fácil identificação. Objetivo: O presente estudo visa estudar a qualidade de vida e algumas variáveis emocionais de pessoas com neurofibromatose tipo 1. Método: Trata-se de um estudo transversal. Foram avaliadas as variáveis de qualidade de vida genérica (WHOQOL-bref e SF-36), qualidade de vida específica para pessoas com problemas de pele (DLQI-bra), sintomas depressivos (BDI), sintomas de ansiedade(BAI), percepção de suporte familiar (IPSF) e estratégias de enfrentamento (Inventário de Estratégias de Coping de Folkman e Lazarus). Os participantes deste estudo também foram avaliados quanto à gravidade (Escala de Riccardi) e visibilidade dos sintomas da doença (Ablon). Resultados: Foram coletados dados de 71 pacientes adultos com NF1. Do total 60,0% da amostra foram pessoas do sexo feminino, a média de idade foi de ± 40,36 anos. Dos 52 pacientes avaliados pela escala de Riccardi, 11,3% apresentou gravidade leve, 40,4% gravidade moderada, 42% sintomas graves de gravidade e 6,5% sintomas muito graves da doença. Com relação a visibilidade dos sintomas medidos pela escala de Ablon, 36,5% apresentam visibilidade leve de sintomas, 30,8% visibilidade moderada e 32.7% visibilidade severa dos sintomas. Conclusão: Os resultados da avaliação de qualidade de vida de pessoas com NF1, ao serem comparados com os dados normativos para amostra, não apresentou diferença estatisticamente significativa. A análise dos sintomas depressivos indicou que grande parte dos entrevistados apresentam sintomas leves de depressão e os dados da escala BAI referente aos sintomas de ansiedade constatou que a média dos entrevistados apresentam sintomas graves de ansiedade, podendo sugerir que a ansiedade seja uma característica importante dessa população. As estratégias de enfrentamento mais utilizadas por esta população foram a reavaliação e o suporte social. Com relação aos resultados da percepção de suporte familiar, podemos perceber que os dados da amostra não apresentaram diferença significativa ao serem comparados com os dados normativos da escala.

Theoretical basis: Quality of life is an important studied variable in health sciences and has become an important indicator in assessing states and health outcome. Chronic diseases are characterized by a prolonged course, sometimes accompanying the carrier all his life, which can influence the perception that the individual has of himself and of his life. The neurofibromatosis type 1 (NF1) is…

Advisors/Committee Members: Prolla, Patrícia Ashton.

Subjects/Keywords: Qualidade de vida; Quality of life; Neurofibromatosis type 1; Neurofibromatose 1; Depressão; Coping strategies; Perception of family support; Depressive symptoms; Anxiety symptoms

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Protas, J. S. (2016). Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/149459

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Protas, Júlia Schneider. “Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1.” 2016. Thesis, Universidade do Rio Grande do Sul. Accessed January 22, 2021. http://hdl.handle.net/10183/149459.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Protas, Júlia Schneider. “Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1.” 2016. Web. 22 Jan 2021.

Vancouver:

Protas JS. Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2016. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10183/149459.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Protas JS. Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1. [Thesis]. Universidade do Rio Grande do Sul; 2016. Available from: http://hdl.handle.net/10183/149459

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cincinnati

29. BENNETT, MICHAEL R. PERTURBATIONS IN OLIGODENDROCYTE PROGENITOR GROWTH AND DIFFERENTIATION: NEUROFIBROMIN AND FGF2 SIGNALING.

Degree: PhD, Medicine : Neuroscience/Medical Science Scholars Interdisiplinary, 2004, University of Cincinnati

URL: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1100015367

► The study of oligodendrogenesis and of stem cells in general has become a burgeoning field in recent years. The ability to replace specific cells of… (more)

Subjects/Keywords: Oligodendrocyte; Neurofibromin; FGF2 Signaling; Ras Signaling; Neurofibromatosis Type 1; Notch-1

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

BENNETT, M. R. (2004). PERTURBATIONS IN OLIGODENDROCYTE PROGENITOR GROWTH AND DIFFERENTIATION: NEUROFIBROMIN AND FGF2 SIGNALING. (Doctoral Dissertation). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1100015367

Chicago Manual of Style (16^th Edition):

BENNETT, MICHAEL R. “PERTURBATIONS IN OLIGODENDROCYTE PROGENITOR GROWTH AND DIFFERENTIATION: NEUROFIBROMIN AND FGF2 SIGNALING.” 2004. Doctoral Dissertation, University of Cincinnati. Accessed January 22, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1100015367.

MLA Handbook (7^th Edition):

BENNETT, MICHAEL R. “PERTURBATIONS IN OLIGODENDROCYTE PROGENITOR GROWTH AND DIFFERENTIATION: NEUROFIBROMIN AND FGF2 SIGNALING.” 2004. Web. 22 Jan 2021.

Vancouver:

BENNETT MR. PERTURBATIONS IN OLIGODENDROCYTE PROGENITOR GROWTH AND DIFFERENTIATION: NEUROFIBROMIN AND FGF2 SIGNALING. [Internet] [Doctoral dissertation]. University of Cincinnati; 2004. [cited 2021 Jan 22]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1100015367.

Council of Science Editors:

BENNETT MR. PERTURBATIONS IN OLIGODENDROCYTE PROGENITOR GROWTH AND DIFFERENTIATION: NEUROFIBROMIN AND FGF2 SIGNALING. [Doctoral Dissertation]. University of Cincinnati; 2004. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1100015367

30. José Roberto Lopes Ferraz Filho. Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1.

Degree: 2011, Faculdade de Medicina de São José do Rio Preto

URL: http://bdtd.famerp.br//tde_busca/arquivo.php?codArquivo=336

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A neurofibromatose tipo 1 (NF1) em crianças e adolescentes está frequentemente associada com o aparecimento ou desaparecimento de lesões focais de hipersinal no encéfalo na… (more)

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A neurofibromatose tipo 1 (NF1) em crianças e adolescentes está frequentemente associada com o aparecimento ou desaparecimento de lesões focais de hipersinal no encéfalo na ponderação T2 (FHE-T2). Estas lesões não são aceitas como critério diagnóstico para NF1 e sua natureza exata ainda não está clara. Objetivos: artigo 1: Avaliar a relação entre a presença dos FHE-T2 e padrões de anisotropia fracionada (FA) em uma série de pacientes com NF1; artigo 2: Demonstrar o padrão de evolução dos FHE-T2 por exame de Ressonância Magnética (RM) em indivíduos com NF1 e relacionar com o valor regional de FA; artigo 3: Avaliar os padrões metabólicos por meio da espectroscopia por ressonância magnética (ERM) do encéfalo na presença dos FHE-T2 em pacientes com NF1. Métodos: artigo 1: Analisou-se uma série de 44 indivíduos com NF1, e 20 controles. A análise quantitativa do FA foi definida em quatro regiões anatômicas pré-determinadas e relacionada à presença de FHE-T2; artigo 2: Analisou-se com imagem de tensor de difusão (DTI) a evolução dos FHE-T2 nas regiões de núcleos da base, tálamos, cerebelo e tronco encefalico de um grupo de 27 pacientes com NF1 e 20 controles. A presença de FHE-T2 em dois exames de RM encefálica consecutivos foram relacionados com o valor de FA; artigo 3: Analisou-se 42 indivíduos com NF1, e 25 controles saudáveis por exame de ERM univoxel na região do globo pálido. Foi feita análise automatizada quantitativa da relação dos metabólitos colina/creatina (Co/Cr), N-acetil aspartato/creatina (Naa/Cr) e Mioinositol/creatina (Mi/Cr) e relacionada à ocorrência de FHE-T2 na região do globo pálido. Resultados: artigo 1: Os FHE-T2 foram diagnosticados em 50% dos pacientes com NF1. Observou-se redução do valor de FA nas regiões do cerebelo e tálamo de aparência normal ou com FHE-T2 de pacientes com NF1 em relação ao controle (P ≤.05); artigo 2: Houve redução significativa no valor de FA nas regiões de núcleos da base, cerebelo e tálamos em pacientes com NF1 em relação ao grupo controle (P ≤.05) mesmo com redução ou desaparecimento dos FHE-T2; artigo 3: Houve diferença estatisticamente significante entre os grupos de pacientes com NF1 e o controle quanto aos valores médios ( ) de Mi/Cr e Co/Cr (P<0,05) na região do globo pálido. Conclusões: artigo 1: A técnica de DTI confirma que os FHE-T2 estejam relacionados às alterações da microestrutura do tecido cerebral em pacientes NF1. artigo 2: A RM possibilita o adequado monitoramento da distribuição no tempo e espaço dos FHE-T2 em pacientes com NF1. DTI evidencia alterações no valor de FA mesmo com o desaparecimento ou redução dos FHE-T2; artigo 3: A ERM permite a caracterização de anormalidades teciduais não demonstráveis nas sequências convencionais de RM de pacientes com NF1 por meio da análise dos metabólitos Co e Mi.

Neurofibromatosis type 1 (NF1) in children and adolescents is frequently associated with the appearance of focal lesion hyperintensities on T2-weighted images seen in the brain which are called Unidentified Bright Objects (UBOs). These…

Advisors/Committee Members: Antônio Soares Souza, Marcos Pontes Muniz, Renato Adam Mendonça, Antônio José da Rocha, Érika Cristina Pavarino-Bertelli.

Subjects/Keywords: Ressonância magnética; Unidentified bright objects; Imagem de tensor de difusão; Neurofibromatose tipo 1; Espectroscopia de Ressonância Magnética; RADIOLOGIA MEDICA; Neurofibromatosis type 1; Magnetic resonance imaging; Unidentified Bright Objects; Diffusion tensor imaging; Magnetic resonance spectroscopy.; Neurofibromatosis type 1; Espectroscopía de Resonancia Magnética; Magnetic Resonance Spectroscopy; Neurofibromatose tipo 1; Espectroscopia por ressonância magnética

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Filho, J. R. L. F. (2011). Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1. (Thesis). Faculdade de Medicina de São José do Rio Preto. Retrieved from http://bdtd.famerp.br//tde_busca/arquivo.php?codArquivo=336

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Filho, José Roberto Lopes Ferraz. “Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1.” 2011. Thesis, Faculdade de Medicina de São José do Rio Preto. Accessed January 22, 2021. http://bdtd.famerp.br//tde_busca/arquivo.php?codArquivo=336.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Filho, José Roberto Lopes Ferraz. “Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1.” 2011. Web. 22 Jan 2021.

Vancouver:

Filho JRLF. Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1. [Internet] [Thesis]. Faculdade de Medicina de São José do Rio Preto; 2011. [cited 2021 Jan 22]. Available from: http://bdtd.famerp.br//tde_busca/arquivo.php?codArquivo=336.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Filho JRLF. Ressonância magnética com imagem de tensor de difusão e espectroscopia na avaliação dos focos de hipersinal na ponderação T2 no encéfalo em crianças e adolescentes com neurofibromatose tipo 1. [Thesis]. Faculdade de Medicina de São José do Rio Preto; 2011. Available from: http://bdtd.famerp.br//tde_busca/arquivo.php?codArquivo=336

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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Open Access Theses and Dissertations