subject:(Mutation)

University of Utah

1. Jeong, Hotcherl. Pyridine transport and assimilation in salmonella enterica.

Degree: PhD, Biology;, 2002, University of Utah

URL: http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/1417/rec/945

► The goal of this work was to reveal how various pyridines are transported and assimilated in Salmonella enterica. In the first strategy, mutants were isolated… (more)

Subjects/Keywords: Mutation

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APA (6^th Edition):

Jeong, H. (2002). Pyridine transport and assimilation in salmonella enterica. (Doctoral Dissertation). University of Utah. Retrieved from http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/1417/rec/945

Chicago Manual of Style (16^th Edition):

Jeong, Hotcherl. “Pyridine transport and assimilation in salmonella enterica.” 2002. Doctoral Dissertation, University of Utah. Accessed March 04, 2021. http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/1417/rec/945.

MLA Handbook (7^th Edition):

Jeong, Hotcherl. “Pyridine transport and assimilation in salmonella enterica.” 2002. Web. 04 Mar 2021.

Vancouver:

Jeong H. Pyridine transport and assimilation in salmonella enterica. [Internet] [Doctoral dissertation]. University of Utah; 2002. [cited 2021 Mar 04]. Available from: http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/1417/rec/945.

Council of Science Editors:

Jeong H. Pyridine transport and assimilation in salmonella enterica. [Doctoral Dissertation]. University of Utah; 2002. Available from: http://content.lib.utah.edu/cdm/singleitem/collection/etd2/id/1417/rec/945

Université de Neuchâtel

2. Lovis, Leonore. Evaluation of acaricide resistance in the cattle tick, 'Rhipicephalus (Boophilus) microplus', using a new in vitro test and molecular tools.

Degree: 2012, Université de Neuchâtel

URL: http://doc.rero.ch/record/30407

► Rhipicephalus (Boophilus) microplus est une tique des bovins à un hôte qui se trouve dans les zones tropicales et subtropicales. Cet ectoparasite a un impact… (more)

▼ Rhipicephalus (Boophilus) microplus est une tique des bovins à un hôte qui se trouve dans les zones tropicales et subtropicales. Cet ectoparasite a un impact économique très important sur l’élevage bovin dans toutes les régions où il se trouve. Au Brésil, par exemple, les pertes dues à son impact direct et indirect ont été estimées à 2 milliards de dollars US en 2000. Le contrôle des populations de tiques des bovins repose essentiellement sur l’utilisation d’acaricides. L’utilisation intensive de ce moyen de lutte a eu pour conséquence le développement de résistances à la majorité des classes d’acaricides disponibles sur le marché. Un suivi local de la résistance aux acaricides est essentiel afin que les éleveurs puissent recevoir des informations sur les composés auxquels les populations de tiques présentes dans leur établissement sont résistantes et être guidés dans le choix de composés de remplacement à disposition. A une échelle globale, le suivi de la résistance permet d’observer sa progression afin d’essayer de ralentir son développement et d’allonger la durée d’utilisation des composés. Les tests in vitro sont des méthodes très utiles pour détecter la résistance des tiques. La FAO recommande deux d’entre eux, l’un utilisant des larves, nommé Larval Packet test (LPT), l’autre utilisant des adultes, appelé Adult Immersion Test (AIT). Chaque test a ses avantages et ses inconvénients : le LPT est un test laborieux qui prend beaucoup de temps alors que le AIT nécessite une grande quantité de tiques. Ces désavantages limitent le nombre de composés et de doses pouvant être testés, limitant ainsi l’information obtenue. Pour surmonter ces difficultés, nous avons développé un nouveau test, nommé Larval Tarsal Test (LTT), qui permet de tester de nombreux composés en peu de temps et avec un minimum de tiques. Dans ce test, des œufs de tiques sont distribués dans des puits de plaques de microtritation préalablement traités avec les acaricides voulant être testés. Les œufs sont incubés jusqu’à l’éclosion des larves, qui sont ainsi exposées aux composés. La résistance des souches de tiques est alors évaluée en fonction de la mortalité des larves écloses. La capacité du LTT à détecter la résistance a été comparée au LPT, un des tests recommandés par la FAO. Pour cela, une souche de tiques sensible ainsi qu’une souche résistante de référence ont été exposées à neuf composés de cinq classes principales d’acaricides : les organophosphorés (OP), les pyréthroïdes de synthèse (SP), les amidines, les lactones macrocycliques (ML) et les phénylpyrazoles. Le LTT a permis d’obtenir de bonnes courbes de dose-réponse, il s’est montré aussi sensible que le LPT et, à mortalités équivalentes, a nécessité des doses de composés nettement plus basses que le LPT. Ayant démontré que le LTT est un test adéquat, des populations de tiques provenant d’Argentine, d’Afrique du Sud et d’Australie ont été envoyées en Suisse pour évaluer leur résistance à l’aide du LTT. Ces tests ont confirmé l’intérêt du LTT à être utilisé pour… Advisors/Committee Members: Bruno (Dir.), Heinz (Codir.).

Subjects/Keywords: point mutation

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APA (6^th Edition):

Lovis, L. (2012). Evaluation of acaricide resistance in the cattle tick, 'Rhipicephalus (Boophilus) microplus', using a new in vitro test and molecular tools. (Thesis). Université de Neuchâtel. Retrieved from http://doc.rero.ch/record/30407

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):

Lovis, Leonore. “Evaluation of acaricide resistance in the cattle tick, 'Rhipicephalus (Boophilus) microplus', using a new in vitro test and molecular tools.” 2012. Thesis, Université de Neuchâtel. Accessed March 04, 2021. http://doc.rero.ch/record/30407.

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

MLA Handbook (7^th Edition):

Lovis, Leonore. “Evaluation of acaricide resistance in the cattle tick, 'Rhipicephalus (Boophilus) microplus', using a new in vitro test and molecular tools.” 2012. Web. 04 Mar 2021.

Vancouver:

Lovis L. Evaluation of acaricide resistance in the cattle tick, 'Rhipicephalus (Boophilus) microplus', using a new in vitro test and molecular tools. [Internet] [Thesis]. Université de Neuchâtel; 2012. [cited 2021 Mar 04]. Available from: http://doc.rero.ch/record/30407.

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

Council of Science Editors:

Lovis L. Evaluation of acaricide resistance in the cattle tick, 'Rhipicephalus (Boophilus) microplus', using a new in vitro test and molecular tools. [Thesis]. Université de Neuchâtel; 2012. Available from: http://doc.rero.ch/record/30407

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

McGill University

3. Slater, Mark. Identification of Mutations at Codon 184 of Simian Immunodeficiency VirusReverse Transcriptase Which Confer Resistance to 3TC.

Degree: MS, Department of Microbiology and Immunology, 1999, McGill University

URL: https://escholarship.mcgill.ca/downloads/x059c984g.pdf ; https://escholarship.mcgill.ca/concern/theses/kh04ds06n

►

SNmac variants resistant to 3TC were generated by in vitro passage with drug selection. C8166 human T-cells were infected with SIVmac32H and passaged in tissue… (more)

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SNmac variants resistant to 3TC were generated by in vitro passage with drug selection. C8166 human T-cells were infected with SIVmac32H and passaged in tissue culture with increasing 3TC selective pressure. At 8 weeks (2.5uM 3TC) viral variants were capable of growth at > 1 OOO-fold the normal inhibitory concentration of3TC, and at 24 weeks (750uM 3TC) were capable of growth at >4000-fold normal inhibitory concentration. RT-coding regions of3TC-resistant variants were then PCR-amplified, cloned, and sequenced. All 2.5 uM clones sequenced contained a M1841 (ATG->ATA) substitution, while all 750 uM clones contained a M184V (ATG->GTA) substitution. We introduced M1841 and M184V mutations into SIVmac239 by site-directed mutagenesis and analyzed the susceptibility of these mutants to several antiviral compounds. M1841 and M184V mutants displayed elevated 3TC resistance (IC50's >500uM for both, versus 1.8uM for wild type SN), thus substantiating the role of these mutations in SIV resistance to 3TC.

Cellules de la ligne humaine C8166 étaient infectes avec le VISmac32H et propages en culture de tissu avec de la pression sélective exercée par le 3TC. Après huit semaines (2.5uM 3TC) les variants étaient capable de croissance a > 1000 -fois la concentration inhibitoire normale de 3TC. Après vingt-quatre semaines (750uM 3TC), les variants étaient capable de croissance a>4000-fois la normale. Séquences RT des variants résistantes a3TC (2.5 et 750IlM) étaient amplifiées par PCR, clonées, puis séquencées. Tous les clones résistants (2.5IlM) séquences avait un mutation MI84I. Tous les clones résistants (750tlM) séquence avait un mutation MI84V (ATG~GTA). Nous avons introduit des mutations MI84I et Ml84V dans le VISmac239 par mutagenese dirigée. Les formes mutées ont démontrées un résistance élevée au 3TC (IC5o>500uM pour MI84I et MI84V, versus 1.8uM pour le type sauvage VIS). Ceci justifie le rôle qu'ont ces mutations auprès de la résistance qu'a le VIS au 3TC.

Advisors/Committee Members: Wainberg, Mark.

Subjects/Keywords: Mutation

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APA (6^th Edition):

Slater, M. (1999). Identification of Mutations at Codon 184 of Simian Immunodeficiency VirusReverse Transcriptase Which Confer Resistance to 3TC. (Masters Thesis). McGill University. Retrieved from https://escholarship.mcgill.ca/downloads/x059c984g.pdf ; https://escholarship.mcgill.ca/concern/theses/kh04ds06n

Chicago Manual of Style (16^th Edition):

Slater, Mark. “Identification of Mutations at Codon 184 of Simian Immunodeficiency VirusReverse Transcriptase Which Confer Resistance to 3TC.” 1999. Masters Thesis, McGill University. Accessed March 04, 2021. https://escholarship.mcgill.ca/downloads/x059c984g.pdf ; https://escholarship.mcgill.ca/concern/theses/kh04ds06n.

MLA Handbook (7^th Edition):

Slater, Mark. “Identification of Mutations at Codon 184 of Simian Immunodeficiency VirusReverse Transcriptase Which Confer Resistance to 3TC.” 1999. Web. 04 Mar 2021.

Vancouver:

Slater M. Identification of Mutations at Codon 184 of Simian Immunodeficiency VirusReverse Transcriptase Which Confer Resistance to 3TC. [Internet] [Masters thesis]. McGill University; 1999. [cited 2021 Mar 04]. Available from: https://escholarship.mcgill.ca/downloads/x059c984g.pdf ; https://escholarship.mcgill.ca/concern/theses/kh04ds06n.

Council of Science Editors:

Slater M. Identification of Mutations at Codon 184 of Simian Immunodeficiency VirusReverse Transcriptase Which Confer Resistance to 3TC. [Masters Thesis]. McGill University; 1999. Available from: https://escholarship.mcgill.ca/downloads/x059c984g.pdf ; https://escholarship.mcgill.ca/concern/theses/kh04ds06n

University of Pennsylvania

4. Singh, Tanya. Hypermutability in Asexuals: Investigating the Effects of Deleterious Mutations.

Degree: 2016, University of Pennsylvania

URL: https://repository.upenn.edu/edissertations/2020

► Mutation is the ultimate source of the genetic variation—including genetic variation for mutation rate itself—that fuels evolution. Selection to increase the genomic mutation rate, driven… (more)

Subjects/Keywords: Deleterious Mutation; Evolutionary Genetics; Mutation; Mutation Accumulation; Mutation Rate Evolution; Neutral Mutation; Biology; Microbiology

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APA (6^th Edition):

Singh, T. (2016). Hypermutability in Asexuals: Investigating the Effects of Deleterious Mutations. (Thesis). University of Pennsylvania. Retrieved from https://repository.upenn.edu/edissertations/2020

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):

Singh, Tanya. “Hypermutability in Asexuals: Investigating the Effects of Deleterious Mutations.” 2016. Thesis, University of Pennsylvania. Accessed March 04, 2021. https://repository.upenn.edu/edissertations/2020.

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

MLA Handbook (7^th Edition):

Singh, Tanya. “Hypermutability in Asexuals: Investigating the Effects of Deleterious Mutations.” 2016. Web. 04 Mar 2021.

Vancouver:

Singh T. Hypermutability in Asexuals: Investigating the Effects of Deleterious Mutations. [Internet] [Thesis]. University of Pennsylvania; 2016. [cited 2021 Mar 04]. Available from: https://repository.upenn.edu/edissertations/2020.

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

Council of Science Editors:

Singh T. Hypermutability in Asexuals: Investigating the Effects of Deleterious Mutations. [Thesis]. University of Pennsylvania; 2016. Available from: https://repository.upenn.edu/edissertations/2020

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

University of Texas – Austin

5. Wang, Kaiyuan. MuAlloy : an automated mutation system for alloy.

Degree: MSin Engineering, Electrical and Computer Engineering, 2015, University of Texas – Austin

URL: http://hdl.handle.net/2152/31865

► Mutation is a powerful technique that researchers have studied for several decades in the context of imperative code. For example, mutation testing is commonly considered… (more)

Subjects/Keywords: MuAlloy; Mutation; Alloy; Mutation testing; Repair

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APA (6^th Edition):

Wang, K. (2015). MuAlloy : an automated mutation system for alloy. (Masters Thesis). University of Texas – Austin. Retrieved from http://hdl.handle.net/2152/31865

Chicago Manual of Style (16^th Edition):

Wang, Kaiyuan. “MuAlloy : an automated mutation system for alloy.” 2015. Masters Thesis, University of Texas – Austin. Accessed March 04, 2021. http://hdl.handle.net/2152/31865.

MLA Handbook (7^th Edition):

Wang, Kaiyuan. “MuAlloy : an automated mutation system for alloy.” 2015. Web. 04 Mar 2021.

Vancouver:

Wang K. MuAlloy : an automated mutation system for alloy. [Internet] [Masters thesis]. University of Texas – Austin; 2015. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/2152/31865.

Council of Science Editors:

Wang K. MuAlloy : an automated mutation system for alloy. [Masters Thesis]. University of Texas – Austin; 2015. Available from: http://hdl.handle.net/2152/31865

University of Minnesota

6. Burns, Michael Bradley. APOBEC3B-driven mutagenesis in breast and other human cancers.

Degree: PhD, Biochemistry, Molecular Bio, and Biophysics, 2013, University of Minnesota

URL: http://purl.umn.edu/159637

► Cancer is a disease that results from alteration of the cellular genome. The sources of these changes are multifarious, and in many cases unknown. This… (more)

Subjects/Keywords: APOBEC3B; Cancer; Mutation

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APA (6^th Edition):

Burns, M. B. (2013). APOBEC3B-driven mutagenesis in breast and other human cancers. (Doctoral Dissertation). University of Minnesota. Retrieved from http://purl.umn.edu/159637

Chicago Manual of Style (16^th Edition):

Burns, Michael Bradley. “APOBEC3B-driven mutagenesis in breast and other human cancers.” 2013. Doctoral Dissertation, University of Minnesota. Accessed March 04, 2021. http://purl.umn.edu/159637.

MLA Handbook (7^th Edition):

Burns, Michael Bradley. “APOBEC3B-driven mutagenesis in breast and other human cancers.” 2013. Web. 04 Mar 2021.

Vancouver:

Burns MB. APOBEC3B-driven mutagenesis in breast and other human cancers. [Internet] [Doctoral dissertation]. University of Minnesota; 2013. [cited 2021 Mar 04]. Available from: http://purl.umn.edu/159637.

Council of Science Editors:

Burns MB. APOBEC3B-driven mutagenesis in breast and other human cancers. [Doctoral Dissertation]. University of Minnesota; 2013. Available from: http://purl.umn.edu/159637

Dalhousie University

7. Kozela, Christopher Paul. ENVIRONMENT-DEPENDENT CAUSES AND CONSEQUENCES OF MUTATION IN SACCHAROMYCES CEREVISIAE.

Degree: PhD, Department of Biology, 2012, Dalhousie University

URL: http://hdl.handle.net/10222/14821

► Environmental effects on mutation have been documented for many years but have concentrated on agents that directly interact with DNA. Mutation research in its early… (more)

▼ Environmental effects on mutation have been documented for many years but have concentrated on agents that directly interact with DNA. Mutation research in its early history investigated a variety of more mundane environmental factors at levels that inhibited biological function and attempted to characterize their mutagenicity. This thesis revisits these old questions armed with more modern methods. It consists of one review chapter and three experimental chapters. The review chapter proposes that biological organization itself acts to direct mutation pressure, and that many mutations are context dependent within this organization. Experimentally, I performed an approximately 1,500-generation mutation accumulation (MA) experiment using the budding yeast Saccharomyces cerevisiae as an evolutionary genetic model. This thesis investigates the rates and distribution of effects of new mutations on fitness when they accumulate under a moderate salt stress. The first experimental section describes the production of the MA lines, measures the diploid fitness traits mitotic growth rate and sporulation, and uses changes in fitness among replicate lines to infer mutation parameters affecting these traits. Mutation rate estimates for these traits were roughly doubled in the salt stress treatment. The proportion of beneficial mutations was high for mutations affecting sporulation in both MA treatments but zero for growth rate. Measurements of haploid viability and haploid growth rate on strains derived from the diploid MA lines were used to infer mutation parameters. Mutation rates affecting haploid growth were ten-fold higher in our salt-line derivatives than those derived from the non-stress treatment. Variance component analysis identified a large fraction of genetic variation arising from differences among haploids within the same tetrad. This component was significantly larger in the salt MA treatment than the non-stress treatment. MA lines were subjected to a novel weak-acid stress. Mutation rate estimates were 38-fold higher in the salt MA treatment when lines were tested under acid stress. Cross-environmental genetic correlation for growth in acid stress versus standard media was significantly different between the two MA treatments suggesting that both MA environment and test environment are important factors when considering mutational effects on fitness. Advisors/Committee Members: David Hall (external-examiner), Hal Whitehead (graduate-coordinator), Robert Latta (thesis-reader), Robert Lee (thesis-reader), Mark O. Johnston (thesis-supervisor), Not Applicable (ethics-approval), Not Applicable (manuscripts), Not Applicable (copyright-release).

Subjects/Keywords: Evolutionary Genetics; Mutation; Environmental Stress

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APA (6^th Edition):

Kozela, C. P. (2012). ENVIRONMENT-DEPENDENT CAUSES AND CONSEQUENCES OF MUTATION IN SACCHAROMYCES CEREVISIAE. (Doctoral Dissertation). Dalhousie University. Retrieved from http://hdl.handle.net/10222/14821

Chicago Manual of Style (16^th Edition):

Kozela, Christopher Paul. “ENVIRONMENT-DEPENDENT CAUSES AND CONSEQUENCES OF MUTATION IN SACCHAROMYCES CEREVISIAE.” 2012. Doctoral Dissertation, Dalhousie University. Accessed March 04, 2021. http://hdl.handle.net/10222/14821.

MLA Handbook (7^th Edition):

Kozela, Christopher Paul. “ENVIRONMENT-DEPENDENT CAUSES AND CONSEQUENCES OF MUTATION IN SACCHAROMYCES CEREVISIAE.” 2012. Web. 04 Mar 2021.

Vancouver:

Kozela CP. ENVIRONMENT-DEPENDENT CAUSES AND CONSEQUENCES OF MUTATION IN SACCHAROMYCES CEREVISIAE. [Internet] [Doctoral dissertation]. Dalhousie University; 2012. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/10222/14821.

Council of Science Editors:

Kozela CP. ENVIRONMENT-DEPENDENT CAUSES AND CONSEQUENCES OF MUTATION IN SACCHAROMYCES CEREVISIAE. [Doctoral Dissertation]. Dalhousie University; 2012. Available from: http://hdl.handle.net/10222/14821

8. 安達, 裕行. 日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定 : Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism.

Degree: 博士（医学）, 2017, Akita University / 秋田大学

URL: http://hdl.handle.net/10295/2513

► Objective: The prevalence of genetic mutations in congenital hypothyroidism (CH) remains undetermined. The objective of this study was to determine the prevalence of mutations in… (more)

Subjects/Keywords: congenital hypothyroidism; genes; mutation; prevalence

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APA (6^th Edition):

安達, �. (2017). 日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定 : Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism. (Thesis). Akita University / 秋田大学. Retrieved from http://hdl.handle.net/10295/2513

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):

安達, 裕行. “日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定 : Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism.” 2017. Thesis, Akita University / 秋田大学. Accessed March 04, 2021. http://hdl.handle.net/10295/2513.

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

MLA Handbook (7^th Edition):

安達, 裕行. “日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定 : Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism.” 2017. Web. 04 Mar 2021.

Vancouver:

安達 �. 日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定 : Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism. [Internet] [Thesis]. Akita University / 秋田大学; 2017. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/10295/2513.

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

Council of Science Editors:

安達 �. 日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定 : Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism. [Thesis]. Akita University / 秋田大学; 2017. Available from: http://hdl.handle.net/10295/2513

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

Cornell University

9. Guo, Yu. Understanding Mechanisms Of Human Diseases Through Biological Networks.

Degree: PhD, Genetics, 2015, Cornell University

URL: http://hdl.handle.net/1813/41176

► In the past few decades, great progress has been made in uncovering the molecular bases of many human diseases. As we begin to appreciate the… (more)

▼ In the past few decades, great progress has been made in uncovering the molecular bases of many human diseases. As we begin to appreciate the complex cellular architecture, the "one-gene/one-enzyme/one-function" concept is no longer apt to explain the complex genotype-phenotype relationships. In fact, the cell functions as an intricate network of interacting genes, gene products and metabolites. Perturbations in biological networks may underlie many disease phenotypes. My dissertation examines the mechanisms of human diseases and disease mutations in the context of biological networks. First, I investigated the regulatory effects of transcription factors (TFs) and microRNAs (miRNAs) on target gene expression, protein-protein interaction and disease association in an integrated gene regulation network. My results suggest that TFs and miRNAs occupy distinct niches in the overall regulatory network within the cell. While TFs tend to regulate intra-module clusters, miRNAs tend to regulate intermodule clusters. Next, to better understand different molecular mechanisms through which mutations lead to diseases, I examined the effects of disease-associated mutations with different inheritance modes and molecular types in a three-dimensional protein interactome network. I found that although recessive mutations on the interaction interface of two interacting proteins tend to cause the same disease, this widelyaccepted "guilt-by-association" principle does not apply to dominant mutations. Furthermore, my analyses suggest that a significant fraction of truncating mutations, which are often considered as "loss-of-function" mutations, can generate functional protein products. Then, I investigated the molecular phenotypes of human disease mutations that are native in the orthologous proteins of other species. As these mutations are potentially compensated in the other species through epistatic selection, they are named potentially epistatic mutations (PEMs). Here, we experimentally demonstrated that PEMs are less deleterious than regular disease mutations, and identified potential intra- and inter-protein compensatory mutations for the PEMs. Finally, I set up a variant prioritizing pipeline that incorporates various biological data such as known disease genes, biological pathways, protein-protein interactions and protein structures to identify predisposing mutations from the wholegenome and whole-exome sequences of Crohn disease and multiple myeloma patients. This analysis pipeline led to the identification of a novel, high-risk variant in Crohn disease. Advisors/Committee Members: Yu,Haiyuan (chair), Clark,Andrew (coChair), Grimson,Andrew William (committee member), Mezey,Jason G. (committee member).

Subjects/Keywords: Human disease mutation; Systems biology

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APA (6^th Edition):

Guo, Y. (2015). Understanding Mechanisms Of Human Diseases Through Biological Networks. (Doctoral Dissertation). Cornell University. Retrieved from http://hdl.handle.net/1813/41176

Chicago Manual of Style (16^th Edition):

Guo, Yu. “Understanding Mechanisms Of Human Diseases Through Biological Networks.” 2015. Doctoral Dissertation, Cornell University. Accessed March 04, 2021. http://hdl.handle.net/1813/41176.

MLA Handbook (7^th Edition):

Guo, Yu. “Understanding Mechanisms Of Human Diseases Through Biological Networks.” 2015. Web. 04 Mar 2021.

Vancouver:

Guo Y. Understanding Mechanisms Of Human Diseases Through Biological Networks. [Internet] [Doctoral dissertation]. Cornell University; 2015. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/1813/41176.

Council of Science Editors:

Guo Y. Understanding Mechanisms Of Human Diseases Through Biological Networks. [Doctoral Dissertation]. Cornell University; 2015. Available from: http://hdl.handle.net/1813/41176

Universidade Estadual de Campinas

10. Santos, Maria Cristina Leme Godoy dos. Analise de gene relacionados a formação do esmalte dental em familias com amelogenese imperfeita: Analysis of known gene for enamed development in families with amelogenesis imperfecta.

Degree: 2007, Universidade Estadual de Campinas

URL: http://repositorio.unicamp.br/jspui/handle/REPOSIP/290019

► Abstract: Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Enamel findings in AI are highly… (more)

Subjects/Keywords: Mutação; Mutation

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APA (6^th Edition):

Santos, M. C. L. G. d. (2007). Analise de gene relacionados a formação do esmalte dental em familias com amelogenese imperfeita: Analysis of known gene for enamed development in families with amelogenesis imperfecta. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/290019

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):

Santos, Maria Cristina Leme Godoy dos. “Analise de gene relacionados a formação do esmalte dental em familias com amelogenese imperfeita: Analysis of known gene for enamed development in families with amelogenesis imperfecta.” 2007. Thesis, Universidade Estadual de Campinas. Accessed March 04, 2021. http://repositorio.unicamp.br/jspui/handle/REPOSIP/290019.

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

MLA Handbook (7^th Edition):

Santos, Maria Cristina Leme Godoy dos. “Analise de gene relacionados a formação do esmalte dental em familias com amelogenese imperfeita: Analysis of known gene for enamed development in families with amelogenesis imperfecta.” 2007. Web. 04 Mar 2021.

Vancouver:

Santos MCLGd. Analise de gene relacionados a formação do esmalte dental em familias com amelogenese imperfeita: Analysis of known gene for enamed development in families with amelogenesis imperfecta. [Internet] [Thesis]. Universidade Estadual de Campinas; 2007. [cited 2021 Mar 04]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/290019.

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

Council of Science Editors:

Santos MCLGd. Analise de gene relacionados a formação do esmalte dental em familias com amelogenese imperfeita: Analysis of known gene for enamed development in families with amelogenesis imperfecta. [Thesis]. Universidade Estadual de Campinas; 2007. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/290019

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

University of Illinois – Urbana-Champaign

11. Casale, Federico Agustin. Empirical investigation of de novo mutations conferring herbicide resistance.

Degree: MS, Crop Sciences, 2018, University of Illinois – Urbana-Champaign

URL: http://hdl.handle.net/2142/101239

► In a predictable natural selection process, herbicides select for adaptive alleles that allow weed populations to survive. These resistance alleles may be available immediately from… (more)

▼ In a predictable natural selection process, herbicides select for adaptive alleles that allow weed populations to survive. These resistance alleles may be available immediately from the standing genetic variation within the population, as well as, may immigrate via pollen or seeds from other populations. Moreover, because all natural populations are constantly subject to new mutant genotypes by de novo mutations, resistant mutants may arise spontaneously in any herbicide-sensitive weed population. Recognizing that the relative contribution of each of these three sources deeply affect what strategies should be applied to counteract herbicide resistance evolution, we aimed to provide experimental information to the resistance evolutionary framework. In this sense, the objective of this experiment was to calculate the de novo mutation rate conferring herbicide resistance in a natural plant population, and, specifically, test the hypothesis that the mutation rate increases when plants are stressed by sub-lethal exposure to herbicides. For this purpose, we used a method to discover spontaneous herbicide-resistant mutants by screening millions of plants using grain amaranth and resistance to ALS herbicides as a model system. After screening 70,000,000 plants, no spontaneous resistant genotypes were detected, determining the probability to find a spontaneous ALS-resistant mutant in a given sensitive plant population as lower than 2 x 10-8. This is lower than expected from theoretical calculations based on previous studies, setting a higher limit for the probability of herbicide-resistant mutants to arise spontaneously in natural plant populations. In addition, we found no evidence that herbicide stress increased the mutation rate. The results found in this study imply that de novo mutations conferring herbicide resistance do not appear to occur at high frequency in plant populations. Advisors/Committee Members: Tranel, Patrick J (advisor), Hudson, Matthew E (committee member), Paige, Kenneth N (committee member).

Subjects/Keywords: Herbicide resistance; Mutation rate

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

APA (6^th Edition):

Casale, F. A. (2018). Empirical investigation of de novo mutations conferring herbicide resistance. (Thesis). University of Illinois – Urbana-Champaign. Retrieved from http://hdl.handle.net/2142/101239

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):

Casale, Federico Agustin. “Empirical investigation of de novo mutations conferring herbicide resistance.” 2018. Thesis, University of Illinois – Urbana-Champaign. Accessed March 04, 2021. http://hdl.handle.net/2142/101239.

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

MLA Handbook (7^th Edition):

Casale, Federico Agustin. “Empirical investigation of de novo mutations conferring herbicide resistance.” 2018. Web. 04 Mar 2021.

Vancouver:

Casale FA. Empirical investigation of de novo mutations conferring herbicide resistance. [Internet] [Thesis]. University of Illinois – Urbana-Champaign; 2018. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/2142/101239.

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

Council of Science Editors:

Casale FA. Empirical investigation of de novo mutations conferring herbicide resistance. [Thesis]. University of Illinois – Urbana-Champaign; 2018. Available from: http://hdl.handle.net/2142/101239

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

Texas A&M University

12. Cutts, George Sherrod. Genetic Analysis, Inheritance and Stability of Mutation-based Herbicide Tolerance in Cotton (Gossypium hirsutum L.).

Degree: PhD, Plant Breeding, 2013, Texas A&M University

URL: http://hdl.handle.net/1969.1/151805

► The evolution of herbicide-resistant weed species in cotton production has created a need for new herbicide technology tools. Herbicide technologies not classified as genetically modified… (more)

▼ The evolution of herbicide-resistant weed species in cotton production has created a need for new herbicide technology tools. Herbicide technologies not classified as genetically modified by recombinant DNA can provide tools with less associated registration and development costs and regulatory and market barriers. Research herein aims to advance herbicide crop tolerance through improvement and genetic analysis of mutation derived herbicide tolerance in cotton. Germplasm exhibiting elevated tolerance to the imidazolinone class of herbicides has been previously identified after mutagenesis with ethyl methanesulfonate (EMS). However, the physiological basis, genetic behavior, and potential for herbicide tolerance improvement are not fully understood and studies were designed to elucidate these factors. Three lines (EM4-3-1-1, EM4-3-1-2, and SCM3-4-3-1) show high levels of imazamox tolerance. Data indicate that yield for all EMS treated lines was equal to or greater than their respective non-EMS treated cultivar. EMS treatment had no adverse effects on other cotton fiber properties. In 2012, levels of imazamox herbicide injury were seen at 14 days after application (DAA) ranging from 25-34 per cent. A greater level of injury was observed in 2013 ranging from 30-37% 7 DAA, and from 60-68% 14 DAA. Injury was transient throughout both growing seasons. Acetolactate synthase (ALS) gene sequencing characterized a mutation at Ala122 that is classified as conferring tolerance to imidazolinone herbicides, but was inconsistent in lines evaluated. Sequencing also revealed lines that have a truncated form of the protein in this region that may inhibit imidazolinone binding to the ALS protein. Chi-square analysis indicated this trait behaves in a simple, dominant fashion. Data from parent-offspring regression analysis indicated moderate correlation between parents and F2 progeny (53%). Correlation is relatively high between F2 and F3 progeny (84%) and demonstrates a strong relationship between these generations. Gain from selection indicates a 13.6% improvement in herbicide tolerance, lending to low progress from selection. These studies have shown that non-transgenic breeding methods can confer and improve imidazolinone herbicide tolerance in cotton, though levels of imidazolinone herbicide injury remained commercially unacceptable. Advisors/Committee Members: Smith, C Wayne (advisor), Dever, Jane K (advisor), Dotray, Peter A (committee member), Hague, Steve S (committee member), Robinson, John RC (committee member).

Subjects/Keywords: Cotton; Herbicide tolerance; Mutation; Inheritance

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

APA (6^th Edition):

Cutts, G. S. (2013). Genetic Analysis, Inheritance and Stability of Mutation-based Herbicide Tolerance in Cotton (Gossypium hirsutum L.). (Doctoral Dissertation). Texas A&M University. Retrieved from http://hdl.handle.net/1969.1/151805

Chicago Manual of Style (16^th Edition):

Cutts, George Sherrod. “Genetic Analysis, Inheritance and Stability of Mutation-based Herbicide Tolerance in Cotton (Gossypium hirsutum L.).” 2013. Doctoral Dissertation, Texas A&M University. Accessed March 04, 2021. http://hdl.handle.net/1969.1/151805.

MLA Handbook (7^th Edition):

Cutts, George Sherrod. “Genetic Analysis, Inheritance and Stability of Mutation-based Herbicide Tolerance in Cotton (Gossypium hirsutum L.).” 2013. Web. 04 Mar 2021.

Vancouver:

Cutts GS. Genetic Analysis, Inheritance and Stability of Mutation-based Herbicide Tolerance in Cotton (Gossypium hirsutum L.). [Internet] [Doctoral dissertation]. Texas A&M University; 2013. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/1969.1/151805.

Council of Science Editors:

Cutts GS. Genetic Analysis, Inheritance and Stability of Mutation-based Herbicide Tolerance in Cotton (Gossypium hirsutum L.). [Doctoral Dissertation]. Texas A&M University; 2013. Available from: http://hdl.handle.net/1969.1/151805

North Carolina State University

13. Keebler, Jonathan Edward Myers. Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees.

Degree: PhD, Bioinformatics, 2010, North Carolina State University

URL: http://www.lib.ncsu.edu/resolver/1840.16/6168

► Recent technological advances have made high-throughput DNA sequencing a routine laboratory experiment. This progression in technology has been made possible by the parallel production of… (more)

▼ Recent technological advances have made high-throughput DNA sequencing a routine laboratory experiment. This progression in technology has been made possible by the parallel production of millions of short fragments of sequence. The responsibility of garnering biological information from these DNA fragments has shifted from the wet-lab to the bioinformatician. As sequencing technology is applied to a growing number of individual human genomes, entire families are now being sequenced. Information contained within the pedigree of a sequenced family can be leveraged when inferring the donorsâ€™ genotypes, a task that is not necessarily trivial using high-throughput sequencing reads. A violation of Mendelian inheritance laws observed amid the resequenced genomes of family members can indicate the presence of a de novo mutation. A method for locating de novo mutations by probabilistically inferring genotypes across a pedigree using high-throughput sequencing is presented and applied to two resequenced nuclear families: one as a collaborative effort within The 1,000 Genomes Project, and the second in an attempt to discover candidate driver and passenger mutations within the genome of an Acute Lymphoblastic Leukemia. The mutation findings within these projects are presented, and the approach is examined in detail, highlighting areas where method improvements may be made. Considering the challenges experienced in these studies within the larger context of the nascent field of Personal Genomics, an honest assessment is presented of developments that must be made before the application of whole-genome sequencing on the scale of an individual human can unequivocally be used to predict, diagnose, or treat human disease. Advisors/Committee Members: Alison Motsinger, Committee Member (advisor), Jeffrey Thorne, Committee Member (advisor), Ignzaio Carbone, Committee Member (advisor), Eric Stone, Committee Chair (advisor), Philip Awadalla, Committee Member (advisor).

Subjects/Keywords: Spontaneous Mutation; 1000 Genomes Project; de novo mutation; high throughput sequencing; next generation sequencing; human mutation rate; human germline mutation rate

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APA (6^th Edition):

Keebler, J. E. M. (2010). Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees. (Doctoral Dissertation). North Carolina State University. Retrieved from http://www.lib.ncsu.edu/resolver/1840.16/6168

Chicago Manual of Style (16^th Edition):

Keebler, Jonathan Edward Myers. “Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees.” 2010. Doctoral Dissertation, North Carolina State University. Accessed March 04, 2021. http://www.lib.ncsu.edu/resolver/1840.16/6168.

MLA Handbook (7^th Edition):

Keebler, Jonathan Edward Myers. “Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees.” 2010. Web. 04 Mar 2021.

Vancouver:

Keebler JEM. Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees. [Internet] [Doctoral dissertation]. North Carolina State University; 2010. [cited 2021 Mar 04]. Available from: http://www.lib.ncsu.edu/resolver/1840.16/6168.

Council of Science Editors:

Keebler JEM. Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees. [Doctoral Dissertation]. North Carolina State University; 2010. Available from: http://www.lib.ncsu.edu/resolver/1840.16/6168

Oregon State University

14. Bollmann, Stephanie R. Reversion reporters in Arabidopsis thaliana to detect all six base substitution pathways.

Degree: PhD, Genetics, 2008, Oregon State University

URL: http://hdl.handle.net/1957/8924

► Maintaining genome integrity is essential for an organism, as mutation accumulation can lead to cancer, reduced fitness, and heritable diseases in offspring. Therefore the study… (more)

▼ Maintaining genome integrity is essential for an organism, as mutation accumulation can lead to cancer, reduced fitness, and heritable diseases in offspring. Therefore the study of mutations, how they are induced, and how they are prevented is vital. Biomonitor systems are useful for understanding the relevant biological effects of a given mutagen, and depending on the system, can even provide information on specific molecular changes induced by the mutagen. Plants are ideal biomonitors, as a sedentary lifestyle allows measurement of mutagens in air, soil, and water, even at low doses. We constructed mutation reporters in Arabidopsis designed to restore β- glucuronidase (GUS) activity through one of six base substitution reversions. All six mutant constructs contained inactivating base substitutions in the same codon, which minimized sequence context effects. An AcV5 epitope tag sequence was fused to the 3' end of GUS to allow detection of the inactive protein and selection of sublines based on levels of GUS protein expression. Initial characterization of these reversion reporters with or without UV-C treatment and exposure to heavy metal ions (Cd²⁺ and Zn²⁺) supports the ability of the lines to measure different mutations. UV-C radiation induced T to C and C to T reversions, as well as T to G and T to A to a lesser extent. Heavy-metal-ion-mutation induction was inconsistent, showing variable increases in G to T and G to C, and no induction of T to C reversion. Of key interest is the G to T reporter line, as this is the first such reporter in higher eukaryotes. This line showed a large increase in spontaneous mutation as well as potential germinal mutations when compared to the other reporter lines, most likely due to endogenous oxidative damage (i.e. 8-oxoguanine). Further experiments to test the reporter lines with various mutagens as well as ways to improve the ability of the reporters to detect mutation are discussed. Advisors/Committee Members: Hays, John B. (advisor), Buermeyer, Andrew (committee member).

Subjects/Keywords: mutation reporter; Arabidopsis thaliana – Genetics

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

APA (6^th Edition):

Bollmann, S. R. (2008). Reversion reporters in Arabidopsis thaliana to detect all six base substitution pathways. (Doctoral Dissertation). Oregon State University. Retrieved from http://hdl.handle.net/1957/8924

Chicago Manual of Style (16^th Edition):

Bollmann, Stephanie R. “Reversion reporters in Arabidopsis thaliana to detect all six base substitution pathways.” 2008. Doctoral Dissertation, Oregon State University. Accessed March 04, 2021. http://hdl.handle.net/1957/8924.

MLA Handbook (7^th Edition):

Bollmann, Stephanie R. “Reversion reporters in Arabidopsis thaliana to detect all six base substitution pathways.” 2008. Web. 04 Mar 2021.

Vancouver:

Bollmann SR. Reversion reporters in Arabidopsis thaliana to detect all six base substitution pathways. [Internet] [Doctoral dissertation]. Oregon State University; 2008. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/1957/8924.

Council of Science Editors:

Bollmann SR. Reversion reporters in Arabidopsis thaliana to detect all six base substitution pathways. [Doctoral Dissertation]. Oregon State University; 2008. Available from: http://hdl.handle.net/1957/8924

Oregon State University

15. Xu, Tanjin. Exploration of Regression Models for Cancer Noncoding Mutation Recurrence.

Degree: MS, Computer Science, 2016, Oregon State University

URL: http://hdl.handle.net/1957/59204

► An important impact of the genome technology revolution will be the elucidation of mechanisms of cancer pathogenesis, leading to improvements in the diagnosis of cancer… (more)

Subjects/Keywords: Cancer; Mutation (Biology) – Statistical methods

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APA (6^th Edition):

Xu, T. (2016). Exploration of Regression Models for Cancer Noncoding Mutation Recurrence. (Masters Thesis). Oregon State University. Retrieved from http://hdl.handle.net/1957/59204

Chicago Manual of Style (16^th Edition):

Xu, Tanjin. “Exploration of Regression Models for Cancer Noncoding Mutation Recurrence.” 2016. Masters Thesis, Oregon State University. Accessed March 04, 2021. http://hdl.handle.net/1957/59204.

MLA Handbook (7^th Edition):

Xu, Tanjin. “Exploration of Regression Models for Cancer Noncoding Mutation Recurrence.” 2016. Web. 04 Mar 2021.

Vancouver:

Xu T. Exploration of Regression Models for Cancer Noncoding Mutation Recurrence. [Internet] [Masters thesis]. Oregon State University; 2016. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/1957/59204.

Council of Science Editors:

Xu T. Exploration of Regression Models for Cancer Noncoding Mutation Recurrence. [Masters Thesis]. Oregon State University; 2016. Available from: http://hdl.handle.net/1957/59204

16. Daccache, Anthony. Etude du mécanisme d’agrégation de la protéine Tau et son inhibition par des composés polyphénoliques : Study of the aggregation mechanism of tau protein and its inhibition by polyphenolic compounds.

Degree: Docteur es, Molécules et Matières Condensées. Biochimie et biologie moléculaire, 2011, Université Lille I – Sciences et Technologies

URL: http://www.theses.fr/2011LIL10116

►

Les isoformes de Tau font parties d’une famille de protéines associées aux microtubules, principalement exprimées dans les neurones du système nerveux central. Ils favorisent l'assemblage… (more)

▼

Les isoformes de Tau font parties d’une famille de protéines associées aux microtubules, principalement exprimées dans les neurones du système nerveux central. Ils favorisent l'assemblage de monomères tubuline en microtubules et leurs stabilités, jouant un rôle structurel clé dans les axones neuronaux. Dans la maladie d’Alzheimer et autres tauopathies, la protéine Tau agrège sous forme d’enchevêtrements fibrillaires impliqués dans les lésions intraneuronales et gliales. A l’heure actuelle, le processus d’agrégation présent au sein des tauopathies n’est pas complètement élucidé malgré un grand nombre d’études effectués in vitro. L’essentiel du travail présenté dans ma thèse est basé sur un modèle d’étude in vitro utilisant une protéine Tau recombinante présentant la mutation P301L. Ce mutant ainsi que d’autres fragments de Tau ont été utilisés pour mieux comprendre le mécanisme d’agrégation, comme par exemple le rôle des cystéines, ou de la région riche en proline. Nous avons montré par des mesures de diffusion de la lumière et fluorescence de la Thioflavine S qu’il existe un système d’agrégation indépendant des ponts disulfures intermoléculaires. Nous avons également étudié la capacité anti agrégative de plusieurs polyphénols naturels et endogènes. Notre attention s’est en particulier portée sur trois dérivés phénoliques obtenus à partir d'huile d'olive : l'hydroxytyrosol, l'oleuropéine, l'oleuropéine aglycone. Ce dernier a été trouvé plus actif que l’inhibiteur de référence de Tau, le bleu de méthylène. Des résultats similaires ont été obtenu avec des molécules issues de la dimérisation du DOPAL. L’activité inhibitrice de la fibrillisation de ces molécules peut même atteindre des valeurs submicromolaires.

Tau isoforms are part of the microtubule-associated proteins family, mainly expressed in neurons of the central nervous system. They promote the assembly of tubulin monomers into microtubules and their stabilities, playing a key structural role in neuronal axons. In Alzheimer's disease and other tauopathies, the tau protein aggregates as fibrillar tangles involved in intraneuronal and glial lesions. At present, the process of aggregation present in the tauopathies is not fully understood despite a large number of studies performed in vitro. Most of the work presented in my thesis is based on an in vitro model study using recombinant tau protein with the P301L mutation. This mutant and other fragments of Tau were used to better understand the mechanism of aggregation, such as the role of the cysteines or the proline-rich region. We have shown by measurements of light scattering and fluorescence of Thioflavin S there is a system of aggregation independent of intermolecular disulfide bonds. We also studied the ability of several anti-aggregative natural polyphenols and endogenous. Our attention was particularly focused on three phenolic derivatives obtained from olive oil: hydroxytyrosol, oleuropein, oleuropein aglycone. The latter was found more active than the reference inhibitor of Tau, methylene blue. Similar…

Advisors/Committee Members: Cotelle, Philippe (thesis director), Lippens, Guy (thesis director).

Subjects/Keywords: Mutation P301L; Hydroxytyrosol; 572.633

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

APA (6^th Edition):

Daccache, A. (2011). Etude du mécanisme d’agrégation de la protéine Tau et son inhibition par des composés polyphénoliques : Study of the aggregation mechanism of tau protein and its inhibition by polyphenolic compounds. (Doctoral Dissertation). Université Lille I – Sciences et Technologies. Retrieved from http://www.theses.fr/2011LIL10116

Chicago Manual of Style (16^th Edition):

Daccache, Anthony. “Etude du mécanisme d’agrégation de la protéine Tau et son inhibition par des composés polyphénoliques : Study of the aggregation mechanism of tau protein and its inhibition by polyphenolic compounds.” 2011. Doctoral Dissertation, Université Lille I – Sciences et Technologies. Accessed March 04, 2021. http://www.theses.fr/2011LIL10116.

MLA Handbook (7^th Edition):

Daccache, Anthony. “Etude du mécanisme d’agrégation de la protéine Tau et son inhibition par des composés polyphénoliques : Study of the aggregation mechanism of tau protein and its inhibition by polyphenolic compounds.” 2011. Web. 04 Mar 2021.

Vancouver:

Daccache A. Etude du mécanisme d’agrégation de la protéine Tau et son inhibition par des composés polyphénoliques : Study of the aggregation mechanism of tau protein and its inhibition by polyphenolic compounds. [Internet] [Doctoral dissertation]. Université Lille I – Sciences et Technologies; 2011. [cited 2021 Mar 04]. Available from: http://www.theses.fr/2011LIL10116.

Council of Science Editors:

Daccache A. Etude du mécanisme d’agrégation de la protéine Tau et son inhibition par des composés polyphénoliques : Study of the aggregation mechanism of tau protein and its inhibition by polyphenolic compounds. [Doctoral Dissertation]. Université Lille I – Sciences et Technologies; 2011. Available from: http://www.theses.fr/2011LIL10116

University of Wisconsin – La Cross

17. Mamerow, Michael. The effects of genetic bottlenecks on mutation fixation and replicative capacity of the influenza A virus.

Degree: 2018, University of Wisconsin – La Cross

URL: http://digital.library.wisc.edu/1793/78856

► The influenza A virus is a common cause of respiratory illness in humans. Seasonal epidemics of influenza in the United States can result in up… (more)

Subjects/Keywords: Microbiology; Avian Influenza Viruses; Mutation

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APA (6^th Edition):

Mamerow, M. (2018). The effects of genetic bottlenecks on mutation fixation and replicative capacity of the influenza A virus. (Thesis). University of Wisconsin – La Cross. Retrieved from http://digital.library.wisc.edu/1793/78856

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):

Mamerow, Michael. “The effects of genetic bottlenecks on mutation fixation and replicative capacity of the influenza A virus.” 2018. Thesis, University of Wisconsin – La Cross. Accessed March 04, 2021. http://digital.library.wisc.edu/1793/78856.

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

MLA Handbook (7^th Edition):

Mamerow, Michael. “The effects of genetic bottlenecks on mutation fixation and replicative capacity of the influenza A virus.” 2018. Web. 04 Mar 2021.

Vancouver:

Mamerow M. The effects of genetic bottlenecks on mutation fixation and replicative capacity of the influenza A virus. [Internet] [Thesis]. University of Wisconsin – La Cross; 2018. [cited 2021 Mar 04]. Available from: http://digital.library.wisc.edu/1793/78856.

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

Council of Science Editors:

Mamerow M. The effects of genetic bottlenecks on mutation fixation and replicative capacity of the influenza A virus. [Thesis]. University of Wisconsin – La Cross; 2018. Available from: http://digital.library.wisc.edu/1793/78856

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

University of Guelph

18. Landy, Christian Peter. An Examination of the Effects of Age-Structure on Mutation Rate Evolution in a Changing Environment by Computer Simulation.

Degree: MS, Department of Integrative Biology, 2015, University of Guelph

URL: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8863

► A life-history involves the scheduling of events in an individual’s life, such as growth, reproduction, and survivorship. This thesis seeks to focus on the possibility… (more)

Subjects/Keywords: age-structure; mutation rate; evolution

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APA (6^th Edition):

Landy, C. P. (2015). An Examination of the Effects of Age-Structure on Mutation Rate Evolution in a Changing Environment by Computer Simulation. (Masters Thesis). University of Guelph. Retrieved from https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8863

Chicago Manual of Style (16^th Edition):

Landy, Christian Peter. “An Examination of the Effects of Age-Structure on Mutation Rate Evolution in a Changing Environment by Computer Simulation.” 2015. Masters Thesis, University of Guelph. Accessed March 04, 2021. https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8863.

MLA Handbook (7^th Edition):

Landy, Christian Peter. “An Examination of the Effects of Age-Structure on Mutation Rate Evolution in a Changing Environment by Computer Simulation.” 2015. Web. 04 Mar 2021.

Vancouver:

Landy CP. An Examination of the Effects of Age-Structure on Mutation Rate Evolution in a Changing Environment by Computer Simulation. [Internet] [Masters thesis]. University of Guelph; 2015. [cited 2021 Mar 04]. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8863.

Council of Science Editors:

Landy CP. An Examination of the Effects of Age-Structure on Mutation Rate Evolution in a Changing Environment by Computer Simulation. [Masters Thesis]. University of Guelph; 2015. Available from: https://atrium.lib.uoguelph.ca/xmlui/handle/10214/8863

University of Otago

19. Sharma, Utsav. Genetic basis of the activation of the cryptic dct genes in Mesorhizobium loti .

Degree: 2010, University of Otago

URL: http://hdl.handle.net/10523/387

► Previous studies showed that, although non-symbiotic mesorhizobia carry a copy of the dctABD genes responsible for C4-dicarboxylate transport, most strains isolated from soil were unable… (more)

▼ Previous studies showed that, although non-symbiotic mesorhizobia carry a copy of the dctABD genes responsible for C4-dicarboxylate transport, most strains isolated from soil were unable to utilise succinate as a carbon source, indicating that the genes were cryptic. Following prolonged incubation on solid media containing succinate as a sole carbon source, two strains (CJ1 and N18) gave rise to succinate-utilising colonies at a frequency much greater than expected by random mutation alone. Sequence analysis revealed that point mutations had occurred within the dctB or dctD genes in these strains. A cosmid clone pJW5 that conferred the mutator phenotype on other Dct- non-symbiotic strains was isolated from a CJ1 genomic DNA library. Two gene clusters similar to the toxin-antitoxin module hipAB, designated hipB1A1 and hipA2B2, found on pJW5 were implicated in the mutator phenotype. pJW5 was mutagenised with transposon Tn5 and two insertions both within hipB2 were the only insertions found that abolished the mutator phenotype. Furthermore, it was reported that subclones of pJW5 containing either or both hipAB loci conferred the mutator phenotype. These findings led to the hypothesis that the hipAB loci enable the cells to mutate to succinate utilisation by allowing them to undergo adaptive mutation through a dormant state known as persistence (Weaver, 2003 and personal communication). In this study subcloning was employed in an effort to confirm that hipAB act as a toxin-antitoxin module and further define the contribution of the hipAB loci to the mutator phenotype. Attempts to express hipA1 or hipA2 from an inducible promoter failed to show that HipA acted as a toxin. Further subcloning studies suggested that neither individual hip genes, hipB1A1, hipA2B2, or both hipAB clusters alone could promote mutation to succinate metabolism, indicating that other gene(s) in addition to hipB2 present on pJW5 are required. Subsequent restriction digests of pJW5 demarcated a region to the left end of pJW5 as most likely being involved in the mutator phenotype. The underlying mechanism of mutation to succinate utilisation, although still ambiguous, seems to harbour some functions of stress-induced mutagenesis (adaptive mutation) and cryptic activation of silent genes. Involvement of other genes in the phenotype was postulated and the Bacterial Transcription Repair Coupling Factor (TRCF or Mfd) gene was identified as a possible candidate. Mfd facilitates recruitment of repair proteins to DNA lesions present on the coding DNA strand of actively transcribed genes. An R7ANS mfd mutant was constructed and analysis of the mutant suggested that the mfd gene plays a role in the mutator phenotype as the onset of mutant colonies was delayed in the mutant and their numbers were reduced. Advisors/Committee Members: Ronson, Clive (advisor).

Subjects/Keywords: Cryptic genes; Mutation; Bacteria; Genetics

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APA (6^th Edition):

Sharma, U. (2010). Genetic basis of the activation of the cryptic dct genes in Mesorhizobium loti . (Masters Thesis). University of Otago. Retrieved from http://hdl.handle.net/10523/387

Chicago Manual of Style (16^th Edition):

Sharma, Utsav. “Genetic basis of the activation of the cryptic dct genes in Mesorhizobium loti .” 2010. Masters Thesis, University of Otago. Accessed March 04, 2021. http://hdl.handle.net/10523/387.

MLA Handbook (7^th Edition):

Sharma, Utsav. “Genetic basis of the activation of the cryptic dct genes in Mesorhizobium loti .” 2010. Web. 04 Mar 2021.

Vancouver:

Sharma U. Genetic basis of the activation of the cryptic dct genes in Mesorhizobium loti . [Internet] [Masters thesis]. University of Otago; 2010. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/10523/387.

Council of Science Editors:

Sharma U. Genetic basis of the activation of the cryptic dct genes in Mesorhizobium loti . [Masters Thesis]. University of Otago; 2010. Available from: http://hdl.handle.net/10523/387

University of Toronto

20. Catona, Stefan. Mutation and Loss of Heterozygosity in an Individual of the Root-infecting Fungus Armillaria Gallica in a Mixed Hardwood Forest.

Degree: 2012, University of Toronto

URL: http://hdl.handle.net/1807/32231

►

Long-lived individuals of the opportunistic fungal pathogen Armillaria gallica arise in single mating events, and then grow vegetatively to occupy large territories including multiple woody… (more)

Subjects/Keywords: Armillaria gallica; somatic mutation; 0329

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APA (6^th Edition):

Catona, S. (2012). Mutation and Loss of Heterozygosity in an Individual of the Root-infecting Fungus Armillaria Gallica in a Mixed Hardwood Forest. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/32231

Chicago Manual of Style (16^th Edition):

Catona, Stefan. “Mutation and Loss of Heterozygosity in an Individual of the Root-infecting Fungus Armillaria Gallica in a Mixed Hardwood Forest.” 2012. Masters Thesis, University of Toronto. Accessed March 04, 2021. http://hdl.handle.net/1807/32231.

MLA Handbook (7^th Edition):

Catona, Stefan. “Mutation and Loss of Heterozygosity in an Individual of the Root-infecting Fungus Armillaria Gallica in a Mixed Hardwood Forest.” 2012. Web. 04 Mar 2021.

Vancouver:

Catona S. Mutation and Loss of Heterozygosity in an Individual of the Root-infecting Fungus Armillaria Gallica in a Mixed Hardwood Forest. [Internet] [Masters thesis]. University of Toronto; 2012. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/1807/32231.

Council of Science Editors:

Catona S. Mutation and Loss of Heterozygosity in an Individual of the Root-infecting Fungus Armillaria Gallica in a Mixed Hardwood Forest. [Masters Thesis]. University of Toronto; 2012. Available from: http://hdl.handle.net/1807/32231

University of Houston

21. -6149-7095. Causes and Consequences of the Evolution of Mutation Rate.

Degree: PhD, Biology, 2016, University of Houston

URL: http://hdl.handle.net/10657/5400

► As the ultimate source of all genetic variation, mutation is required for evolution. The mutation rate measures the rate at which mutations occur over time.… (more)

▼ As the ultimate source of all genetic variation, mutation is required for evolution. The mutation rate measures the rate at which mutations occur over time. How the mutation rate evolves and how it interacts with other evolutionary processes are still far from clearly understood. In this thesis, I employ individual-based simulations and aim to understand how the evolution of mutation rate interacts with other evolutionary forces such as mutation biases, selection for evolvability, genetic drift and the evolution of recombination rate. In Chapter 3, I studied the role of mutation bias (bias towards high mutation rate) in the evolution of mutation rate, which has been long ignored in the literature. I found that the effect of mutation bias on the evolution of mutation rate is significant when compared to that of other broadly promoted evolutionary forces such as natural selection, mutator hitchhiking, and genetic drift. Even in sexual populations, I found that mutation bias can still operate and drive the evolution of mutation rate. In Chapter 4, when the mutation rate (U) and recombination rate (R) are not allowed to evolve, I found that there exists an optimal mutation rate (Uopt), at which a population can achieve their maximal evolvability (E). Popula- tions displayed negative evolvability if U was above a critical value (Ucrit). Asexual and sexual populations showed similar relationships between E and U. Moreover, increasing R also increased E, Uopt, and Ucrit. In Chapter 5, I found that selection for evolvability cannot optimize U when it is allowed to evolve because U increased without bound — a phenomenon known as mutation rate catastrophe. In addition, the effect of mutation bias is much stronger than the selection for evolvability in sexual populations, indicating the selection for evolvability is not the only force that can affect the evolution of U and is a weak selection. However, U cannot be opti- mized when both forces are operating. Lastly, I found that selection can optimize the recombination rate for high evolvability. High R can prevent populations from experiencing the mutation rate catastrophe, although populations do not always evolve high R. Advisors/Committee Members: Azevedo, Ricardo B. R. (advisor), Cooper, Timothy F. (committee member), Cole, Blaine J. (committee member), Josić, Krešimir (committee member), Balazsi, Gabor (committee member).

Subjects/Keywords: Evolution; Mutation rate; Mutations; Simulations

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

APA (6^th Edition):

-6149-7095. (2016). Causes and Consequences of the Evolution of Mutation Rate. (Doctoral Dissertation). University of Houston. Retrieved from http://hdl.handle.net/10657/5400

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Chicago Manual of Style (16^th Edition):

-6149-7095. “Causes and Consequences of the Evolution of Mutation Rate.” 2016. Doctoral Dissertation, University of Houston. Accessed March 04, 2021. http://hdl.handle.net/10657/5400.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

MLA Handbook (7^th Edition):

-6149-7095. “Causes and Consequences of the Evolution of Mutation Rate.” 2016. Web. 04 Mar 2021.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Vancouver:

-6149-7095. Causes and Consequences of the Evolution of Mutation Rate. [Internet] [Doctoral dissertation]. University of Houston; 2016. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/10657/5400.

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

Council of Science Editors:

-6149-7095. Causes and Consequences of the Evolution of Mutation Rate. [Doctoral Dissertation]. University of Houston; 2016. Available from: http://hdl.handle.net/10657/5400

Note: this citation may be lacking information needed for this citation format:
Author name may be incomplete

University of Texas Southwestern Medical Center

22. Lankes, Richard Thomas. Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators.

Degree: 2011, University of Texas Southwestern Medical Center

URL: http://hdl.handle.net/2152.5/946

►

The file named "LankesRichard.pdf" is the primary dissertation file. The file named "Lankes_Zipped_Media_Files.zip" is a zipped file folder with 42 files (in 5 folders), which… (more)

▼

The file named "LankesRichard.pdf" is the primary dissertation file. The file named "Lankes_Zipped_Media_Files.zip" is a zipped file folder with 42 files (in 5 folders), which contains all the other files listed here.

The purpose of this project was to design and produce a lightweight scientific suitcase teaching tool that ninth grade high school science educators may implement into their curriculum when teaching students the concepts about genetic mutations. Contained within the suitcase are an animation, card game, hands-on models, and display posters, along with a teacher’s instruction manual. This scientific suitcase was created in an attempt to fill in the apparent lack of information over genetic mutations that is present in current Texas high school textbooks and resources. It may assist students in better preparing for standardized testing by giving their educators an all-in-one module that can give the classroom extensive information on genetic mutations, all in one easy to carry suitcase. The suitcase components have been evaluated for their effectiveness and appeal by current educators, from 8th grade to college level, who specialize in multiple fields of science. The scientific suitcase’s impact on students’ performance and comprehension will be tested by STARS and DISD once it has been fully integrated into the science classroom curriculum The purpose of this project was to design and produce a lightweight scientific suitcase teaching tool that ninth grade high school science educators may implement into their curriculum when teaching students the concepts about genetic mutations. Contained within the suitcase are an animation, card game, hands-on models, and display posters, along with a teacher’s instruction manual. This scientific suitcase was created in an attempt to fill in the apparent lack of information over genetic mutations that is present in current Texas high school textbooks and resources. It may assist students in better preparing for standardized testing by giving their educators an all-in-one module that can give the classroom extensive information on genetic mutations, all in one easy to carry suitcase. The suitcase components have been evaluated for their effectiveness and appeal by current educators, from 8th grade to college level, who specialize in multiple fields of science. The scientific suitcase’s impact on students’ performance and comprehension will be tested by STARS and DISD once it has been fully integrated into the science classroom curriculum

Advisors/Committee Members: Krumwiede, Kimberly Hoggatt.

Subjects/Keywords: Mutation; Teaching Materials; Adolescent

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

APA (6^th Edition):

Lankes, R. T. (2011). Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators. (Thesis). University of Texas Southwestern Medical Center. Retrieved from http://hdl.handle.net/2152.5/946

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):

Lankes, Richard Thomas. “Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators.” 2011. Thesis, University of Texas Southwestern Medical Center. Accessed March 04, 2021. http://hdl.handle.net/2152.5/946.

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

MLA Handbook (7^th Edition):

Lankes, Richard Thomas. “Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators.” 2011. Web. 04 Mar 2021.

Vancouver:

Lankes RT. Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators. [Internet] [Thesis]. University of Texas Southwestern Medical Center; 2011. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/2152.5/946.

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

Council of Science Editors:

Lankes RT. Genetic Mutations: A STARS Scientific Suitcase for 9th Grade High School Science Educators. [Thesis]. University of Texas Southwestern Medical Center; 2011. Available from: http://hdl.handle.net/2152.5/946

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

23. 仲里, 秀次. Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis : SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発.

Degree: 博士(医学), 2017, University of the Ryukyus / 琉球大学

URL: http://hdl.handle.net/20.500.12000/36588

► The SWI/SNF chromatin remodeling complex is frequently inactivated by somaticmutations of its various components in various types of cancers, and also by aberrant DNA methylation.… (more)

Subjects/Keywords: Epigenetics; SWI/SNF; mutation; ESCC

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APA (6^th Edition):

仲里, �. (2017). Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis : SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発. (Thesis). University of the Ryukyus / 琉球大学. Retrieved from http://hdl.handle.net/20.500.12000/36588

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):

仲里, 秀次. “Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis : SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発.” 2017. Thesis, University of the Ryukyus / 琉球大学. Accessed March 04, 2021. http://hdl.handle.net/20.500.12000/36588.

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

MLA Handbook (7^th Edition):

仲里, 秀次. “Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis : SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発.” 2017. Web. 04 Mar 2021.

Vancouver:

仲里 �. Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis : SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発. [Internet] [Thesis]. University of the Ryukyus / 琉球大学; 2017. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/20.500.12000/36588.

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

Council of Science Editors:

仲里 �. Early-Stage Induction of SWI/SNF Mutations during Esophageal Squamous Cell Carcinogenesis : SIW/SNF遺伝子異常の食道扁平上皮がん発がんの早期における誘発. [Thesis]. University of the Ryukyus / 琉球大学; 2017. Available from: http://hdl.handle.net/20.500.12000/36588

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

Central Connecticut State University

24. Ramirez, Francisco. Making a chromosomal assignment for the juvenile alopecia (jal) mutation in mice.

Degree: Department of Biomolecular Sciences, 2012, Central Connecticut State University

URL: http://content.library.ccsu.edu/u?/ccsutheses,2081

►

The juvenile alopecia (jal) mutation in mice arose on the standard C3H/HeJ inbred background. This mutation controls a poorly-understood recessive disorder in which affected subjects… (more)

Subjects/Keywords: Mutation (Biology); Gene mapping.

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APA (6^th Edition):

Ramirez, F. (2012). Making a chromosomal assignment for the juvenile alopecia (jal) mutation in mice. (Thesis). Central Connecticut State University. Retrieved from http://content.library.ccsu.edu/u?/ccsutheses,2081

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):

Ramirez, Francisco. “Making a chromosomal assignment for the juvenile alopecia (jal) mutation in mice.” 2012. Thesis, Central Connecticut State University. Accessed March 04, 2021. http://content.library.ccsu.edu/u?/ccsutheses,2081.

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

MLA Handbook (7^th Edition):

Ramirez, Francisco. “Making a chromosomal assignment for the juvenile alopecia (jal) mutation in mice.” 2012. Web. 04 Mar 2021.

Vancouver:

Ramirez F. Making a chromosomal assignment for the juvenile alopecia (jal) mutation in mice. [Internet] [Thesis]. Central Connecticut State University; 2012. [cited 2021 Mar 04]. Available from: http://content.library.ccsu.edu/u?/ccsutheses,2081.

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

Council of Science Editors:

Ramirez F. Making a chromosomal assignment for the juvenile alopecia (jal) mutation in mice. [Thesis]. Central Connecticut State University; 2012. Available from: http://content.library.ccsu.edu/u?/ccsutheses,2081

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

University of Bradford

25. Al-Shammari, Mohamad Hilal. Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.

Degree: PhD, 2013, University of Bradford

URL: http://hdl.handle.net/10454/6318

► Biological and environmental factors contribute collectively to the development of human cancers. The primary focus of this research project was to investigate the impact of… (more)

▼ Biological and environmental factors contribute collectively to the development of human cancers. The primary focus of this research project was to investigate the impact of germline gene mutations, as a significant biological factor, on 29 major primary human cancers. For this I obtained data from multiple databases, including the Genetic Association Database (GAD), Sanger database (COSMIC), HGMD database, OMIM data and PubMed literature. Using the Extraction Transform and Load (ETL) process, 424 genes were obtained with 8,879 cancer mutation records. By integrating these gene mutation records a Human Cancer Map (HCM) was constructed, from which several sub-maps were derived based on particular mutation classes. Furthermore, a Protein-Protein Interaction Map (PPIM) was constructed based on the encoded proteins of the 424 gene set. Several key questions were addressed using the HCM and its sub-maps including the following: (i) Are individual groups of primary cancers associated with specific subset of genes (within the 424 full set)? (ii) Are groups of primary cancers associated with particular mutation classes? (iii) If both questions prove to be true, are groups of cancers associated with particular mutation class of target genes? This project also explored whether a corresponding Protein-Protein Interaction Map, derived from the Missense/Non-sense Mutation portion of the HCM gene set, would provide further information on gene associations between primary cancers in terms of the consequent identical amino acid changes involved. Results showed that: (1) closely-connected human cancers in the HCM exhibited a strong association with a particular mutation class; (2) Missense /Nonsense and Regulatory mutations played a central role in connecting cancers (i.e. via primary nodes) and so significantly influenced the construction of the HCM; (3) Genes with Missense/Nonsense and Regulatory mutations tended to be involved in cancer-associated pathways; (4) Using the kappa test to measure the extent of agreement between two connected primary cancers in the sub-HCMs, BRCA1, BRCA2, PALB2, MSH2, MSH6, MLH1, CDKN2A, and TP53 showed highest agreement for 5 of 10 mutation classes; (5) From the PIPM, it was evident that BRCA1, MSH6, BARD1, TP53, MSH2 and CHEK2 proteins best connected Breast, Ovarian, Prostate and Bowel primary cancers, and so the latter could represent 'driver proteins' for these cancers. In summary, this project has approached the analysis of gene involvement in human primary cancers from the starting position of the mutation class that harbours the specific gene mutation. Together with their downstream resultant alterations in the associated proteins, this analysis can provide insights into the relatedness of primary human cancers and their potential gene hierarchies. These data may therefore help us to understand more fully the etiology, diagnosis and potentially personalized treatments for cancer.

Subjects/Keywords: 616.99; Cancer; Mutation; Chromosomes; Pathways

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

APA (6^th Edition):

Al-Shammari, M. H. (2013). Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers. (Doctoral Dissertation). University of Bradford. Retrieved from http://hdl.handle.net/10454/6318

Chicago Manual of Style (16^th Edition):

Al-Shammari, Mohamad Hilal. “Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.” 2013. Doctoral Dissertation, University of Bradford. Accessed March 04, 2021. http://hdl.handle.net/10454/6318.

MLA Handbook (7^th Edition):

Al-Shammari, Mohamad Hilal. “Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers.” 2013. Web. 04 Mar 2021.

Vancouver:

Al-Shammari MH. Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers. [Internet] [Doctoral dissertation]. University of Bradford; 2013. [cited 2021 Mar 04]. Available from: http://hdl.handle.net/10454/6318.

Council of Science Editors:

Al-Shammari MH. Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers. [Doctoral Dissertation]. University of Bradford; 2013. Available from: http://hdl.handle.net/10454/6318

26. Birgersson, David. Skräck och avsky : Att framkalla stötande känslor i skräck.

Degree: Informatics, 2014, University of Skövde

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9449

► Syftet med denna studie är att undersöka i vilken grad olika fysiska avvikelser kring en humanoids ögon/syn kan framkalla stötande känslor, de fysiska avvikelser… (more)

Subjects/Keywords: skräck; sjukdom; mutation; stympning

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APA (6^th Edition):

Birgersson, D. (2014). Skräck och avsky : Att framkalla stötande känslor i skräck. (Thesis). University of Skövde. Retrieved from http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9449

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):

Birgersson, David. “Skräck och avsky : Att framkalla stötande känslor i skräck.” 2014. Thesis, University of Skövde. Accessed March 04, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9449.

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

MLA Handbook (7^th Edition):

Birgersson, David. “Skräck och avsky : Att framkalla stötande känslor i skräck.” 2014. Web. 04 Mar 2021.

Vancouver:

Birgersson D. Skräck och avsky : Att framkalla stötande känslor i skräck. [Internet] [Thesis]. University of Skövde; 2014. [cited 2021 Mar 04]. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9449.

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

Council of Science Editors:

Birgersson D. Skräck och avsky : Att framkalla stötande känslor i skräck. [Thesis]. University of Skövde; 2014. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9449

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

Hong Kong University of Science and Technology

27. Yu, Ping. A dosage suppressor screen of a vps74 temperature sensitive mutant.

Degree: 2015, Hong Kong University of Science and Technology

URL: http://repository.ust.hk/ir/Record/1783.1-86337 ; https://doi.org/10.14711/thesis-b1514801 ; http://repository.ust.hk/ir/bitstream/1783.1-86337/1/th_redirect.html

► In yeast, Vps74p mediates the Golgi membrane retention of glycosyltransferases by incorporating these enzymes into coat protein complex I (COPI) coated vesicles. VPS74 is not… (more)

Subjects/Keywords: Suppressor cells ; Yeast ; Mutation (Biology)

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APA (6^th Edition):

Yu, P. (2015). A dosage suppressor screen of a vps74 temperature sensitive mutant. (Thesis). Hong Kong University of Science and Technology. Retrieved from http://repository.ust.hk/ir/Record/1783.1-86337 ; https://doi.org/10.14711/thesis-b1514801 ; http://repository.ust.hk/ir/bitstream/1783.1-86337/1/th_redirect.html

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):

Yu, Ping. “A dosage suppressor screen of a vps74 temperature sensitive mutant.” 2015. Thesis, Hong Kong University of Science and Technology. Accessed March 04, 2021. http://repository.ust.hk/ir/Record/1783.1-86337 ; https://doi.org/10.14711/thesis-b1514801 ; http://repository.ust.hk/ir/bitstream/1783.1-86337/1/th_redirect.html.

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

MLA Handbook (7^th Edition):

Yu, Ping. “A dosage suppressor screen of a vps74 temperature sensitive mutant.” 2015. Web. 04 Mar 2021.

Vancouver:

Yu P. A dosage suppressor screen of a vps74 temperature sensitive mutant. [Internet] [Thesis]. Hong Kong University of Science and Technology; 2015. [cited 2021 Mar 04]. Available from: http://repository.ust.hk/ir/Record/1783.1-86337 ; https://doi.org/10.14711/thesis-b1514801 ; http://repository.ust.hk/ir/bitstream/1783.1-86337/1/th_redirect.html.

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

Council of Science Editors:

Yu P. A dosage suppressor screen of a vps74 temperature sensitive mutant. [Thesis]. Hong Kong University of Science and Technology; 2015. Available from: http://repository.ust.hk/ir/Record/1783.1-86337 ; https://doi.org/10.14711/thesis-b1514801 ; http://repository.ust.hk/ir/bitstream/1783.1-86337/1/th_redirect.html

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

28. Hagman, Hans. Mutation Testing : A comparison of mutation selection methods.

Degree: Humanities and Informatics, 2012, University of Skövde

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569

► Software is all around us in our lives in the industrialized world, and we as a society and individuals need it to function correctly.… (more)

Subjects/Keywords: Software Testing; Mutation; Testing Effectiveness; Selective Mutation; Mjukvarutestning; Mutation; Testeffektivitet; Utvald Mutation; Computer Sciences; Datavetenskap (datalogi)

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

APA (6^th Edition):

Hagman, H. (2012). Mutation Testing : A comparison of mutation selection methods. (Thesis). University of Skövde. Retrieved from http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569

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):

Hagman, Hans. “Mutation Testing : A comparison of mutation selection methods.” 2012. Thesis, University of Skövde. Accessed March 04, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569.

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

MLA Handbook (7^th Edition):

Hagman, Hans. “Mutation Testing : A comparison of mutation selection methods.” 2012. Web. 04 Mar 2021.

Vancouver:

Hagman H. Mutation Testing : A comparison of mutation selection methods. [Internet] [Thesis]. University of Skövde; 2012. [cited 2021 Mar 04]. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569.

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

Council of Science Editors:

Hagman H. Mutation Testing : A comparison of mutation selection methods. [Thesis]. University of Skövde; 2012. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-6569

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

29. Birgersson, David. SKRÄCK OCH AVSKY : Att framkalla stötande känslor i skräck.

Degree: Informatics, 2014, University of Skövde

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9598

► Syftet med denna studie är att undersöka i vilken grad olika fysiska avvikelser kring en humanoids ögon/syn kan framkalla stötande känslor, de fysiska avvikelser… (more)

Subjects/Keywords: skräck; sjukdom; mutation; stympning

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

APA (6^th Edition):

Birgersson, D. (2014). SKRÄCK OCH AVSKY : Att framkalla stötande känslor i skräck. (Thesis). University of Skövde. Retrieved from http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9598

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):

Birgersson, David. “SKRÄCK OCH AVSKY : Att framkalla stötande känslor i skräck.” 2014. Thesis, University of Skövde. Accessed March 04, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9598.

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

MLA Handbook (7^th Edition):

Birgersson, David. “SKRÄCK OCH AVSKY : Att framkalla stötande känslor i skräck.” 2014. Web. 04 Mar 2021.

Vancouver:

Birgersson D. SKRÄCK OCH AVSKY : Att framkalla stötande känslor i skräck. [Internet] [Thesis]. University of Skövde; 2014. [cited 2021 Mar 04]. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9598.

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

Council of Science Editors:

Birgersson D. SKRÄCK OCH AVSKY : Att framkalla stötande känslor i skräck. [Thesis]. University of Skövde; 2014. Available from: http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-9598

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

Delft University of Technology

30. Leontiuc, Ioana (author). Continuous Mutation Testing in Modern Software Development.

Degree: 2017, Delft University of Technology

URL: http://resolver.tudelft.nl/uuid:ce135a31-972f-4f96-bfbb-28b813045e1b

► Modern software is being built in a continuously integrated fashion, in order to overcome the challenges that come with developing large software systems from many… (more)

▼ Modern software is being built in a continuously integrated fashion, in order to overcome the challenges that come with developing large software systems from many contributors. The cornerstone of continuous integration is the testing step, since it is supposed to protect the system from changes that might disrupt correct behavior. Mutation testing is a method that checks the fault finding capability of a test suite. Current CI settings do not implement a step that checks how thorough the test suite is. Therefore, the goal of this thesis has been to explore how mutation testing can be applied to changes under analysis in a continuous integration setting. Since there is no infrastructure to support this, in order to conduct our study we developed OPi+, a prototype tool for experimenting the infrastructure required for a continuous mutation testing approach. Using real-world systems for analysis, we give initial evidence of the continuous mutation testing usefulness in terms of costs and benefits when applied to realistic software changes. The empirical study is based on analysis performed on the entire commit history of the popular open source Java Maven systems. Through our study we defined 5 types of outcomes together with a continuous mutation testing behavior flow and additional analysis that streamlines current mutation testing practices. We showed not only that mutation testing in a CI environment requires significantly fewer resources but they are also within the limits required by a CI pipeline. Through our study we also identify unmutable code for which we propose appropriate unimplemented operator set. We also study the evolution of surviving mutants with regards to their impact on the systems` technical debt. In our study, we showed initial evidence that mutation testing can successfully be made compatible with a CI environment. We therefore propose a few ideas that could possibly further streamline continuous mutation testing. Advisors/Committee Members: van Deursen, Arie (mentor), Liem, Cynthia (graduation committee), Hauff, Claudia (graduation committee), Delft University of Technology (degree granting institution).

Subjects/Keywords: mutation testing continuous integration

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

APA (6^th Edition):

Leontiuc, I. (. (2017). Continuous Mutation Testing in Modern Software Development. (Masters Thesis). Delft University of Technology. Retrieved from http://resolver.tudelft.nl/uuid:ce135a31-972f-4f96-bfbb-28b813045e1b

Chicago Manual of Style (16^th Edition):

Leontiuc, Ioana (author). “Continuous Mutation Testing in Modern Software Development.” 2017. Masters Thesis, Delft University of Technology. Accessed March 04, 2021. http://resolver.tudelft.nl/uuid:ce135a31-972f-4f96-bfbb-28b813045e1b.

MLA Handbook (7^th Edition):

Leontiuc, Ioana (author). “Continuous Mutation Testing in Modern Software Development.” 2017. Web. 04 Mar 2021.

Vancouver:

Leontiuc I(. Continuous Mutation Testing in Modern Software Development. [Internet] [Masters thesis]. Delft University of Technology; 2017. [cited 2021 Mar 04]. Available from: http://resolver.tudelft.nl/uuid:ce135a31-972f-4f96-bfbb-28b813045e1b.

Council of Science Editors:

Leontiuc I(. Continuous Mutation Testing in Modern Software Development. [Masters Thesis]. Delft University of Technology; 2017. Available from: http://resolver.tudelft.nl/uuid:ce135a31-972f-4f96-bfbb-28b813045e1b

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Open Access Theses and Dissertations