subject:(Mutation de r sistance)

University of Georgia

1. Ding, Tan. Implementing SELC (sequential elimination of level combinations) for practitioners.

Degree: 2014, University of Georgia

► Genetic algorithms (GAs) are a popular technology to search for an optimum in a large search space. Wu, Mao and Ma prosposed the sequential elimination… (more)

Subjects/Keywords: ORTHOGONAL ARRAY; FORBIDDEN ARRAY; WEIGHTED MUTATION; SAS; MATLAB; R

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APA (6^th Edition):

Ding, T. (2014). Implementing SELC (sequential elimination of level combinations) for practitioners. (Thesis). University of Georgia. Retrieved from http://hdl.handle.net/10724/23617

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):

Ding, Tan. “Implementing SELC (sequential elimination of level combinations) for practitioners.” 2014. Thesis, University of Georgia. Accessed January 22, 2021. http://hdl.handle.net/10724/23617.

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

MLA Handbook (7^th Edition):

Ding, Tan. “Implementing SELC (sequential elimination of level combinations) for practitioners.” 2014. Web. 22 Jan 2021.

Vancouver:

Ding T. Implementing SELC (sequential elimination of level combinations) for practitioners. [Internet] [Thesis]. University of Georgia; 2014. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10724/23617.

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

Council of Science Editors:

Ding T. Implementing SELC (sequential elimination of level combinations) for practitioners. [Thesis]. University of Georgia; 2014. Available from: http://hdl.handle.net/10724/23617

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

North Carolina State University

2. 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 January 22, 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. 22 Jan 2021.

Vancouver:

Keebler JEM. Spontaneous Mutation Discovery via High-Throughput Sequencing of Pedigrees. [Internet] [Doctoral dissertation]. North Carolina State University; 2010. [cited 2021 Jan 22]. 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

3. Viraphong Caudwell, Larissa. Dynamiques théorique et expérimentale des taux de mutations : Experimental and theoric dynamic of mutation rate.

Degree: Docteur es, Virologie microbiologie immunologie, 2015, Université Grenoble Alpes (ComUE)

URL: http://www.theses.fr/2015GREAV038

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Les mutations constituent une des principales sources de variation sur lesquelles agit la sélection naturelle, permettant ainsi l'évolution des organismes vivants. Comprendre la dynamique d'accumulation… (more)

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Les mutations constituent une des principales sources de variation sur lesquelles agit la sélection naturelle, permettant ainsi l'évolution des organismes vivants. Comprendre la dynamique d'accumulation des mutations, ainsi que les biais pouvant influer leur apparition, est donc indispensable pour mieux appréhender les processus évolutifs. Dans cette thèse, j'ai exploré ces deux aspects dans un contexte évolutif.Dans une première partie, je me suis intéressée à la dynamique des taux de mutation au cours du temps évolutif. En effet, les mutations pouvant être bénéfiques, neutres ou délétères, la dynamique des taux de mutation est régie par deux forces opposées que sont l'adaptabilité (la capacité à évoluer) et la stabilité du génome. Cette dynamique a été très étudiée de façon théorique, mais les études expérimentales sont plus limitées, et surtout à des périodes de temps courtes.Dans une seconde partie, je me suis intéressée aux biais mutationnels. En effet, de précédentes études ont montré que les taux de mutation pouvaient varier au sein d'un même génome. Ainsi, certaines mutations peuvent se produire de façon plus fréquente que d'autres, le taux de mutation d'un nucléotide pouvant par exemple être influencé par les nucléotides avoisinants.Ces analyses ont été réalisées dans le contexte de l'expérience d'évolution à long terme initiée en 1988 par Richard Lenski (Michigan State University, USA). Douze populations ont été initiées à partir d'un ancêtre commun Escherichia coli et sont propagées depuis plus de 25 ans par repiquages quotidiens dans un milieu frais. Des échantillons ont été prélevés et le génome de clones évolués séquencé à différents temps, permettant une étude phénotypique et génomique des taux de mutations sur plus de 50 000 générations.J'ai ainsi pu mettre en évidence une dynamique importante des taux de mutation, avec l'émergence de génotypes hypermutateurs suivie de phénomènes de compensation multiples. D'autre part, j'ai pu observer des biais mutationnels importants dont l'impact des nucléotides avoisinant les mutations silencieuses dans les populations.

Mutations are the ultimate source of variation that allow living organisms to adapt through natural selection. Understanding the dynamics of mutation accumulation and how they are biased stands as a keystone to understand evolutionary processes. In this work, I explored these two aspects of mutation accumulation in an evolutionary framework.First, I studied the dynamics of mutation rates over evolutionary time. As mutations may be beneficial, neutral or deleterious, the dynamics of mutation rates will be a function of two opposite driving forces: evolvability or the ability to evolve and genome stability. The resulting dynamics has been widely studied theoretically but experimental studies are scarce and mostly limited to short periods of time.Second, I focused on mutational biases. Previous studies showed that mutation rates might vary within given genomes, as a function for example of both their localization and neighboring nucleotides.All…

Advisors/Committee Members: Schneider, Dominique (thesis director), Tenaillon, Olivier (thesis director).

Subjects/Keywords: Évolution; Taux de mutation; Mutateurs; Evolution; Mutation rate; Mutators; 570

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

APA (6^th Edition):

Viraphong Caudwell, L. (2015). Dynamiques théorique et expérimentale des taux de mutations : Experimental and theoric dynamic of mutation rate. (Doctoral Dissertation). Université Grenoble Alpes (ComUE). Retrieved from http://www.theses.fr/2015GREAV038

Chicago Manual of Style (16^th Edition):

Viraphong Caudwell, Larissa. “Dynamiques théorique et expérimentale des taux de mutations : Experimental and theoric dynamic of mutation rate.” 2015. Doctoral Dissertation, Université Grenoble Alpes (ComUE). Accessed January 22, 2021. http://www.theses.fr/2015GREAV038.

MLA Handbook (7^th Edition):

Viraphong Caudwell, Larissa. “Dynamiques théorique et expérimentale des taux de mutations : Experimental and theoric dynamic of mutation rate.” 2015. Web. 22 Jan 2021.

Vancouver:

Viraphong Caudwell L. Dynamiques théorique et expérimentale des taux de mutations : Experimental and theoric dynamic of mutation rate. [Internet] [Doctoral dissertation]. Université Grenoble Alpes (ComUE); 2015. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2015GREAV038.

Council of Science Editors:

Viraphong Caudwell L. Dynamiques théorique et expérimentale des taux de mutations : Experimental and theoric dynamic of mutation rate. [Doctoral Dissertation]. Université Grenoble Alpes (ComUE); 2015. Available from: http://www.theses.fr/2015GREAV038

4. Goulois, Joffrey. Diversité des modes de résistance de cible aux antivitamines K chez les rongeurs : Diversity of target resistance modes to vitamin K.

Degree: Docteur es, Biochimie, 2016, Lyon

URL: http://www.theses.fr/2016LYSE1048

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Les populations de rongeurs sont responsables de nombreux problèmes économiques et sanitaires. Pour ces raisons certains rongeurs sont qualifiés de nuisibles, tels que le rat… (more)

Subjects/Keywords: VKORC1; Résistance; Mutation; AVKs; Pression de selection; VKORC1; Resistance; Mutation; VKA; Selection pressure; 572

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

APA (6^th Edition):

Goulois, J. (2016). Diversité des modes de résistance de cible aux antivitamines K chez les rongeurs : Diversity of target resistance modes to vitamin K. (Doctoral Dissertation). Lyon. Retrieved from http://www.theses.fr/2016LYSE1048

Chicago Manual of Style (16^th Edition):

Goulois, Joffrey. “Diversité des modes de résistance de cible aux antivitamines K chez les rongeurs : Diversity of target resistance modes to vitamin K.” 2016. Doctoral Dissertation, Lyon. Accessed January 22, 2021. http://www.theses.fr/2016LYSE1048.

MLA Handbook (7^th Edition):

Goulois, Joffrey. “Diversité des modes de résistance de cible aux antivitamines K chez les rongeurs : Diversity of target resistance modes to vitamin K.” 2016. Web. 22 Jan 2021.

Vancouver:

Goulois J. Diversité des modes de résistance de cible aux antivitamines K chez les rongeurs : Diversity of target resistance modes to vitamin K. [Internet] [Doctoral dissertation]. Lyon; 2016. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2016LYSE1048.

Council of Science Editors:

Goulois J. Diversité des modes de résistance de cible aux antivitamines K chez les rongeurs : Diversity of target resistance modes to vitamin K. [Doctoral Dissertation]. Lyon; 2016. Available from: http://www.theses.fr/2016LYSE1048

University of Georgia

5. Arthur, Robert Adam. Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data.

Degree: 2018, University of Georgia

URL: http://hdl.handle.net/10724/37260

► A few methods exist to identify the full spectrum of recent mutations in specific lineages, but all are costly, laborious and slow. We propose a… (more)

Subjects/Keywords: whole genome; de novo mutation; rare alleles; rice; foxtail millet; mutation; genomics; genetics

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

APA (6^th Edition):

Arthur, R. A. (2018). Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data. (Thesis). University of Georgia. Retrieved from http://hdl.handle.net/10724/37260

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):

Arthur, Robert Adam. “Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data.” 2018. Thesis, University of Georgia. Accessed January 22, 2021. http://hdl.handle.net/10724/37260.

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

MLA Handbook (7^th Edition):

Arthur, Robert Adam. “Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data.” 2018. Web. 22 Jan 2021.

Vancouver:

Arthur RA. Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data. [Internet] [Thesis]. University of Georgia; 2018. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10724/37260.

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

Council of Science Editors:

Arthur RA. Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data. [Thesis]. University of Georgia; 2018. Available from: http://hdl.handle.net/10724/37260

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

University of Georgia

6. Arthur, Robert Adam. Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data.

Degree: 2018, University of Georgia

URL: http://hdl.handle.net/10724/37103

► A few methods exist to identify the full spectrum of recent mutations in specific lineages, but all are costly, laborious and slow. We propose a… (more)

Subjects/Keywords: whole genome; de novo mutation; rare alleles; rice; foxtail millet; mutation; genomics; genetics

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

APA (6^th Edition):

Arthur, R. A. (2018). Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data. (Thesis). University of Georgia. Retrieved from http://hdl.handle.net/10724/37103

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):

Arthur, Robert Adam. “Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data.” 2018. Thesis, University of Georgia. Accessed January 22, 2021. http://hdl.handle.net/10724/37103.

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

MLA Handbook (7^th Edition):

Arthur, Robert Adam. “Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data.” 2018. Web. 22 Jan 2021.

Vancouver:

Arthur RA. Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data. [Internet] [Thesis]. University of Georgia; 2018. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10724/37103.

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

Council of Science Editors:

Arthur RA. Efficient discovery of rare alleles and de novo mutations from pre-existing genomic data. [Thesis]. University of Georgia; 2018. Available from: http://hdl.handle.net/10724/37103

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

7. Calvez, Marie-Laure. Etude de la régulation du canal CFTR impliqué dans la mucoviscidose par un analogue de la GnRHet le Mg2+ : Study of the regulation by a GnRH analog and Mg2+ of the CFTR Cl- channel involved in cystic fibrosis.

Degree: Docteur es, Biologie-santé, 2017, Brest

URL: http://www.theses.fr/2017BRES0048

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La mucoviscidose est la maladie héréditaire autosomique récessive, rare, létale, la plus fréquente dans la population caucasienne. Cette maladie est causée par des mutations du… (more)

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La mucoviscidose est la maladie héréditaire autosomique récessive, rare, létale, la plus fréquente dans la population caucasienne. Cette maladie est causée par des mutations du gène CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) codant la protéine CFTR. Cette protéine est principalement un canal chlorure (Cl-) AMPc-dépendant localisé dans la membrane apicale des cellules épithéliales. La mutation F508del entraîne un défaut de maturation de la protéine qui est retenue dans le réticulum endoplasmique avant d’être dégradée. Cependant, une faible quantité de protéines malformées échappe à ce système de contrôle et parvient à la membrane plasmique.Des travaux de notre équipe ont montré une augmentation des efflux ioniques dépendants du CFTR dans des lignées cellulaires épithéliales bronchiques (CFBE41o-), exprimant le CFTR sauvage ou le CFTR muté F508del, après un traitement par une hormone: la gonadolibérine (GnRH, Gonadotropin releasing hormone, 1h, 10-9M). Cette augmentation est vraisemblablement due à un nombre plus important de canaux CFTR à la membrane plasmique.L’objectif de cette thèse a été de tester un analogue de la GnRH comme modulateur de l’exportation membranaire et/ou de l’activité canal du CFTR muté, sur des cultures primaires de cellules épithéliales nasales humaines homozygotes pour la mutation F508del. Dans un premier temps, nous avons vérifié la présence du récepteur à la GnRH (R-GnRH) dans notre modèle cellulaire. Puis, nous avons étudié l’effet de l’analogue sur la fonction du CFTR par des techniques d’électrophysiologie. Nous avons observé une augmentation des efflux d’ions Cl- médiés par le canal CFTR après un traitement à l’analogue (2h, 10-12M). Enfin, une étude protéomique nous a permis d’identifier des protéines différentiellement exprimées après traitement. Certaines protéines mises en évidence pourraient appartenir à des voies de signalisation intracellulaires ayant un rôle dans la régulation de la protéine CFTR et être des cibles thérapeutiques.Par ailleurs, le canal CFTR est régulé par le Mg2+ intracellulaire ([Mg2+]i). Le canal TRPM7 est le principal régulateur du [Mg2+]i. La [Mg2+]i a été mesurée et l’expression de TRPM7 vérifiée dans des cellules Hela transfectées avec le CFTR sauvage (wt) ou mutés (G551D et F508del). Nous avons étudié la localisation, la fonction et la régulation de TRPM7 dans nos modèles cellulaires avant de rechercher un possible lien fonctionnel entre le CFTR et TRPM7. Dans les modèles CF, l’expression, la fonction et la localisation du canal TRPM7 sont altérées. Il existerait un lien fonctionnel entre TRPM7 et le CFTR par l’intermédiaire de la diminution du [Mg2+]i impliquant TRPM7 dans la physiopathologie de la mucoviscidose.

Cystic fibrosis is the most common lethal autosomal recessive disease in the Caucasian population. This disease is caused by mutations in the gene encoding the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) protein. This protein is a cAMP-regulated chloride channel expressed at the apical membrane of epithelial…

Advisors/Committee Members: Trouvé, Pascal (thesis director).

Subjects/Keywords: CFTR; Mutation F508del; GnRH; Cellules nasales humaines; Analogue; R-GnRH; Mg2+; TRPM7; CFTR; F508del mutation; GnRH; Human nasal epithelial cells; Analogue; GnRHR; Mg2+; TRPM7; 616.372

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

APA (6^th Edition):

Calvez, M. (2017). Etude de la régulation du canal CFTR impliqué dans la mucoviscidose par un analogue de la GnRHet le Mg2+ : Study of the regulation by a GnRH analog and Mg2+ of the CFTR Cl- channel involved in cystic fibrosis. (Doctoral Dissertation). Brest. Retrieved from http://www.theses.fr/2017BRES0048

Chicago Manual of Style (16^th Edition):

Calvez, Marie-Laure. “Etude de la régulation du canal CFTR impliqué dans la mucoviscidose par un analogue de la GnRHet le Mg2+ : Study of the regulation by a GnRH analog and Mg2+ of the CFTR Cl- channel involved in cystic fibrosis.” 2017. Doctoral Dissertation, Brest. Accessed January 22, 2021. http://www.theses.fr/2017BRES0048.

MLA Handbook (7^th Edition):

Calvez, Marie-Laure. “Etude de la régulation du canal CFTR impliqué dans la mucoviscidose par un analogue de la GnRHet le Mg2+ : Study of the regulation by a GnRH analog and Mg2+ of the CFTR Cl- channel involved in cystic fibrosis.” 2017. Web. 22 Jan 2021.

Vancouver:

Calvez M. Etude de la régulation du canal CFTR impliqué dans la mucoviscidose par un analogue de la GnRHet le Mg2+ : Study of the regulation by a GnRH analog and Mg2+ of the CFTR Cl- channel involved in cystic fibrosis. [Internet] [Doctoral dissertation]. Brest; 2017. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2017BRES0048.

Council of Science Editors:

Calvez M. Etude de la régulation du canal CFTR impliqué dans la mucoviscidose par un analogue de la GnRHet le Mg2+ : Study of the regulation by a GnRH analog and Mg2+ of the CFTR Cl- channel involved in cystic fibrosis. [Doctoral Dissertation]. Brest; 2017. Available from: http://www.theses.fr/2017BRES0048

8. Monteiro, Maria Joana Ferreira Bangueiro. Validação da escala de impacto de acontecimentos revista (IES-R).

Degree: 2011, RCAAP

URL: https://www.rcaap.pt/detail.jsp?id=oai:repositorio.cespu.pt:20.500.11816/197

► O presente estudo aborda o tema “ validação da escala de impacto de acontecimentos -Revista (IES-R) ”, tendo como objectivo analisar a validação da escala… (more)

Subjects/Keywords: escala de impacto de acontecimentos; IES-R

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APA (6^th Edition):

Monteiro, M. J. F. B. (2011). Validação da escala de impacto de acontecimentos revista (IES-R). (Thesis). RCAAP. Retrieved from https://www.rcaap.pt/detail.jsp?id=oai:repositorio.cespu.pt:20.500.11816/197

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):

Monteiro, Maria Joana Ferreira Bangueiro. “Validação da escala de impacto de acontecimentos revista (IES-R).” 2011. Thesis, RCAAP. Accessed January 22, 2021. https://www.rcaap.pt/detail.jsp?id=oai:repositorio.cespu.pt:20.500.11816/197.

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

MLA Handbook (7^th Edition):

Monteiro, Maria Joana Ferreira Bangueiro. “Validação da escala de impacto de acontecimentos revista (IES-R).” 2011. Web. 22 Jan 2021.

Vancouver:

Monteiro MJFB. Validação da escala de impacto de acontecimentos revista (IES-R). [Internet] [Thesis]. RCAAP; 2011. [cited 2021 Jan 22]. Available from: https://www.rcaap.pt/detail.jsp?id=oai:repositorio.cespu.pt:20.500.11816/197.

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

Council of Science Editors:

Monteiro MJFB. Validação da escala de impacto de acontecimentos revista (IES-R). [Thesis]. RCAAP; 2011. Available from: https://www.rcaap.pt/detail.jsp?id=oai:repositorio.cespu.pt:20.500.11816/197

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

9. Krasovec, Marc. Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote : Estimation of mutation rates : implications for diversification and evolution of eukaryotic phytoplankton.

Degree: Docteur es, Evolution moléculaire, 2016, Université Pierre et Marie Curie – Paris VI

URL: http://www.theses.fr/2016PA066371

►

Les mutations sont la principale source de diversité sur laquelle agit la sélection pour permettre aux espèces de s'adapter. Les études de l'effet des mutations… (more)

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Les mutations sont la principale source de diversité sur laquelle agit la sélection pour permettre aux espèces de s'adapter. Les études de l'effet des mutations sur la survie et du taux de mutation sont donc essentielles pour mieux comprendre l'évolution. Par une approche d'expérience d'accumulation de mutations, nous étudions ces deux questions chez cinq modèles d'algues vertes (Ostreococcus tauri, O. mediterraneus, Bathycoccus prasinos, Micromonas pusilla, et Picochlorum RCC4223). Il est mis en évidence une diminution de la fitness au cours du temps en raison des mutations délétères, et une importante interaction génotype-environnement sur l'effet des mutations. Le taux de mutation varie aux échelles intra-génomique et inter-spécifique, avec deux principaux résultats: une augmentation du taux de mutation dans les régions non codantes et une augmentation du taux de mutation avec la taille du génome chez les eucaryotes et en fonction de l'écart à l'équilibre en GC du génome. Aussi, l'assemblage et l'annotation d'une picoalgue du genre Picochlorum permettent d'étudier le rôle des transferts horizontaux de gènes chez les Chlorophytes.

Mutations are the main source of diversity on which selection acts to allow species to adapt. Studies of the effect of mutations on survival and estimation of spontaneous mutation rates are essential to better understand evolution. Using mutation accumulation experimental approach, we investigated the issues of mutation effects and mutation rate in five models of green algae (Ostreococcus tauri, O. mediterraneus, Bathycoccus Prasinos, Micromonas pusilla, and Picochlorum RCC4223). It highlighted a decline in fitness over time because of deleterious mutations, and a significant genotype-environment interaction on the fitness effect of mutations. The mutation rate varies at inter-specific and intra-genomic scales, with two main results: a raise of the mutation rate in non-coding regions in accordance with trancriptional-coupled repair, and an increase of the mutation rate with an increase of the genome size in eukaryotes and the GC content deviation from the equilibrium. Also, a new Picochlorum genome is provided to investigate the role of horizontal gene transfer in the Chlorophyta group.

Advisors/Committee Members: Piganeau, Gwenaël (thesis director), Sanchez-Ferandin, Sophie (thesis director).

Subjects/Keywords: Taux de mutation; Phytoplancton; Fitness; Mutations spontanées; Accumulation de mutations; Evolution eucaryote; Mutation rate; Spontaneous mutations; Eucaryote evolution; 579.8

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

APA (6^th Edition):

Krasovec, M. (2016). Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote : Estimation of mutation rates : implications for diversification and evolution of eukaryotic phytoplankton. (Doctoral Dissertation). Université Pierre et Marie Curie – Paris VI. Retrieved from http://www.theses.fr/2016PA066371

Chicago Manual of Style (16^th Edition):

Krasovec, Marc. “Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote : Estimation of mutation rates : implications for diversification and evolution of eukaryotic phytoplankton.” 2016. Doctoral Dissertation, Université Pierre et Marie Curie – Paris VI. Accessed January 22, 2021. http://www.theses.fr/2016PA066371.

MLA Handbook (7^th Edition):

Krasovec, Marc. “Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote : Estimation of mutation rates : implications for diversification and evolution of eukaryotic phytoplankton.” 2016. Web. 22 Jan 2021.

Vancouver:

Krasovec M. Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote : Estimation of mutation rates : implications for diversification and evolution of eukaryotic phytoplankton. [Internet] [Doctoral dissertation]. Université Pierre et Marie Curie – Paris VI; 2016. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2016PA066371.

Council of Science Editors:

Krasovec M. Estimation des taux de mutation : implications pour la diversification et l'évolution du phytoplancton eucaryote : Estimation of mutation rates : implications for diversification and evolution of eukaryotic phytoplankton. [Doctoral Dissertation]. Université Pierre et Marie Curie – Paris VI; 2016. Available from: http://www.theses.fr/2016PA066371

10. Majul, Enrique Alberto. Software para control y seguimiento de patologías crónicas basado en la autogestión.

Degree: Facultad de Ciencias de Salud, 2013, Universidad Católica de Córdoba

URL: http://pa.bibdigital.uccor.edu.ar/1268/

► ste trabajo pretende analizar, a través de una formulación cuantitativa y cualitativa, que impacto tienen las nuevas tecnologías en el cuidado de la salud. Se… (more)

Subjects/Keywords: QA76 Software de computadoras; R Medicina (General)

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

APA (6^th Edition):

Majul, E. A. (2013). Software para control y seguimiento de patologías crónicas basado en la autogestión. (Doctoral Dissertation). Universidad Católica de Córdoba. Retrieved from http://pa.bibdigital.uccor.edu.ar/1268/

Chicago Manual of Style (16^th Edition):

Majul, Enrique Alberto. “Software para control y seguimiento de patologías crónicas basado en la autogestión.” 2013. Doctoral Dissertation, Universidad Católica de Córdoba. Accessed January 22, 2021. http://pa.bibdigital.uccor.edu.ar/1268/.

MLA Handbook (7^th Edition):

Majul, Enrique Alberto. “Software para control y seguimiento de patologías crónicas basado en la autogestión.” 2013. Web. 22 Jan 2021.

Vancouver:

Majul EA. Software para control y seguimiento de patologías crónicas basado en la autogestión. [Internet] [Doctoral dissertation]. Universidad Católica de Córdoba; 2013. [cited 2021 Jan 22]. Available from: http://pa.bibdigital.uccor.edu.ar/1268/.

Council of Science Editors:

Majul EA. Software para control y seguimiento de patologías crónicas basado en la autogestión. [Doctoral Dissertation]. Universidad Católica de Córdoba; 2013. Available from: http://pa.bibdigital.uccor.edu.ar/1268/

Universidad Andrés Bello

11. Jiménez Miranda, Tomás Eduardo. Rol de las rutas de señalización Gs y Gq reguladas por el R-KDEL en la activación de autofagia y fusión de autofagosomas con lisosomas .

Degree: 2019, Universidad Andrés Bello

URL: http://repositorio.unab.cl/xmlui/handle/ria/9069

► El transporte intracelular involucra un gran flujo de membranas y proteínas entre el retículo endoplasmático (RE), el aparato de Golgi (AG) y el sistema endo-lisosomal.… (more)

Subjects/Keywords: Receptor R-KDEL; Autofagia; Aparato de Golgi

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

APA (6^th Edition):

Jiménez Miranda, T. E. (2019). Rol de las rutas de señalización Gs y Gq reguladas por el R-KDEL en la activación de autofagia y fusión de autofagosomas con lisosomas . (Thesis). Universidad Andrés Bello. Retrieved from http://repositorio.unab.cl/xmlui/handle/ria/9069

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):

Jiménez Miranda, Tomás Eduardo. “Rol de las rutas de señalización Gs y Gq reguladas por el R-KDEL en la activación de autofagia y fusión de autofagosomas con lisosomas .” 2019. Thesis, Universidad Andrés Bello. Accessed January 22, 2021. http://repositorio.unab.cl/xmlui/handle/ria/9069.

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

MLA Handbook (7^th Edition):

Jiménez Miranda, Tomás Eduardo. “Rol de las rutas de señalización Gs y Gq reguladas por el R-KDEL en la activación de autofagia y fusión de autofagosomas con lisosomas .” 2019. Web. 22 Jan 2021.

Vancouver:

Jiménez Miranda TE. Rol de las rutas de señalización Gs y Gq reguladas por el R-KDEL en la activación de autofagia y fusión de autofagosomas con lisosomas . [Internet] [Thesis]. Universidad Andrés Bello; 2019. [cited 2021 Jan 22]. Available from: http://repositorio.unab.cl/xmlui/handle/ria/9069.

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

Council of Science Editors:

Jiménez Miranda TE. Rol de las rutas de señalización Gs y Gq reguladas por el R-KDEL en la activación de autofagia y fusión de autofagosomas con lisosomas . [Thesis]. Universidad Andrés Bello; 2019. Available from: http://repositorio.unab.cl/xmlui/handle/ria/9069

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

12. Benz, Nathalie. Stimulation de cellules épithéliales bronchiques humaines par la GnRH : effet sur le transport ionique médié par le CFTR : No title.

Degree: Docteur es, Biologie-santé, 2013, Brest

URL: http://www.theses.fr/2013BRES0021

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Introduction : La mucoviscidose est une maladie génétique autosomale récessive causée par des mutations dans le gène CFTR (cystic fibrosis transmembrane conductance regulator). Ce dernier… (more)

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Introduction : La mucoviscidose est une maladie génétique autosomale récessive causée par des mutations dans le gène CFTR (cystic fibrosis transmembrane conductance regulator). Ce dernier code un canal chlorure AMPc-dépendant localisé dans la membrane apicale des cellules épithéliales, dont l’activité est régulée par de nombreuses interactions protéine-protéine. Dans le cadre de la recherche de nouveaux partenaires du CFTR, une interaction directe entre le canal (sauvage et muté F508del) etl’annexine A5 (AnxA5) a été mise en évidence dans notre laboratoire. Des stratégies de sur et de sousexpression nous ont également permis d’établir un lien fonctionnel entre les deux protéines. En effet, nos travaux montrent que les sécrétions ioniques dépendantes du CFTR sont corrélées au niveau d’expression intracellulaire de l’AnxA5. Par ailleurs, une élévation des courants médiés par le CFTR ainsi qu’une augmentation de la quantité de canaux dans la membrane plasmique sont observées suite à la surexpression de l’AnxA5 dans des cellules exprimant le CFTR muté F508del.But de l’étude : Au vu de ces observations, l’AnxA5 apparaît comme une cible potentielle pour la correction de certains défauts engendrés par la mutation F508del. Une piste thérapeutique pourrait être l’identification de composés capables d’augmenter son expression dans des cellules épithéliales exprimant le mutant F508del de la protéine CFTR. Considérant les informations fournies par la littérature, notre choix s’est porté sur la GnRH (gonadotropin-releasing hormone), molécule utilisée en thérapeutique humaine depuis plus de 25 ans. Ainsi, nous avons évalué l’effet de la GnRH sur la modulation de l’expression de l’AnxA5 et sur le transport ionique dépendant du CFTR dans nos différents modèles d’étude Résultats : Outre la présence du récepteur de la GnRH dans nos modèles cellulaires, nous montrons également que l’expression de l’AnxA5 y est augmentée dès 60 minutes de traitement avec l’hormone (1 nM). De plus, comparativement à des cellules non stimulées, des cellules prétraitées avec la GnRH présentent une hausse significative des sorties actives d’iodure, corrélant avec une augmentation de la quantité de CFTR à la surface cellulaire. Ces observations ont été faites dans les modèles exprimant le CFTR muté F508del ainsi que dans ceux exprimant le CFTR sauvage. Conclusion : Dans nos modèles et selon nos conditions de stimulation, un traitement avec la GnRH augmente l’expression intracellulaire de l’AnxA5 et conduit à une élévation des sécrétions ioniques médiées par le canal CFTR. Néanmoins, au vu de la multitude de voies de signalisation susceptibles d’être activées et de gènes pouvant être régulés suite à la liaison de la GnRH sur son récepteur, l’effet observé sur l’AnxA5 ne représente probablement pas le seul évènement cellulaire à l’origine de l’impact positif enregistré sur l’activité du canal CFTR.

Background: Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene,…

Advisors/Committee Members: Férec, Claude (thesis director).

Subjects/Keywords: CFTR; Mutation F508del; Transport ionique; AnxA5; GnRH; Récepteur de la GnR; CFTR; F508del mutation; Ion transport; AnxA5; GnRH; GnRH recepto

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

APA (6^th Edition):

Benz, N. (2013). Stimulation de cellules épithéliales bronchiques humaines par la GnRH : effet sur le transport ionique médié par le CFTR : No title. (Doctoral Dissertation). Brest. Retrieved from http://www.theses.fr/2013BRES0021

Chicago Manual of Style (16^th Edition):

Benz, Nathalie. “Stimulation de cellules épithéliales bronchiques humaines par la GnRH : effet sur le transport ionique médié par le CFTR : No title.” 2013. Doctoral Dissertation, Brest. Accessed January 22, 2021. http://www.theses.fr/2013BRES0021.

MLA Handbook (7^th Edition):

Benz, Nathalie. “Stimulation de cellules épithéliales bronchiques humaines par la GnRH : effet sur le transport ionique médié par le CFTR : No title.” 2013. Web. 22 Jan 2021.

Vancouver:

Benz N. Stimulation de cellules épithéliales bronchiques humaines par la GnRH : effet sur le transport ionique médié par le CFTR : No title. [Internet] [Doctoral dissertation]. Brest; 2013. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2013BRES0021.

Council of Science Editors:

Benz N. Stimulation de cellules épithéliales bronchiques humaines par la GnRH : effet sur le transport ionique médié par le CFTR : No title. [Doctoral Dissertation]. Brest; 2013. Available from: http://www.theses.fr/2013BRES0021

13. Emília Oliveira Alves Costa. ESTUDO GENÉTICO RETROSPECTIVO DE MUTAÇÕES GERMINATIVAS EM LOCI STR DE INDIVÍDUOS POTENCIALMENTE EXPOSTOS À RADIAÇÃO IONIZANTE.

Degree: 2010, Pontifícia Universidade Católica de Goiás

URL: http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=1055

►

O acidente radiológico de Goiânia em 1987 foi um grave episódio de contaminação por radioatividade ocorrido no Brasil. Como conseqüência foram contaminadas centenas de pessoas… (more)

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O acidente radiológico de Goiânia em 1987 foi um grave episódio de contaminação por radioatividade ocorrido no Brasil. Como conseqüência foram contaminadas centenas de pessoas através das radiações emitidas pelo césio 137. Recentemente, vários estudos têm mostrado que instabilidade no genoma, como por exemplo, mutações, aberrações cromossômicas, formação de micronúcleos, instabilidade de microssatélites e atraso na morte celular são comumente relatadas em células de mamíferos expostos à radiação ionizante, sendo consideradas como o principal fator de risco em humanos para o câncer. As mutações podem ser espontâneas, sendo a freqüência de ocorrência dependente do organismo, ou ainda, induzida, podendo ser ocasionadas pela exposição a agentes mutagênicos. As radiações ionizantes são exemplos de agentes físicos e mutagênicos que podem levar ao comprometimento dos mecanismos de reparo celular e ao desenvolvimento de diversos tipos de câncer. Avaliar os efeitos biológicos da radiação ionizante, em células somáticas e germinativas, com conseqüente determinação da taxa de mutações radioinduzidas, é extremamente importante para a estimativa de riscos genéticos, principalmente em populações expostas à radiação. Análises de seqüências repetitivas de DNA têm demonstrado que estas seqüências são sujeitas a altas taxas de mutações espontâneas. As seqüências minissatélites e microssatélites têm sido usadas para demonstrar satisfatoriamente a indução de mutação germinativa em camundongos, humanos, dentre outros organismos. O objetivo do presente estudo foi analisar a freqüência de alterações em microssatélites para determimar a taxa de mutações ocorridas em células de linhagem germinativa dos progenitores expostos à radiação ionizante do Césio-137. O grupo exposto foi constituído por 10 famílias do grupo 2 e o grupo controle por 645 indivíduos provenientes de exames de vínculo genético realizados em 2010. Foi encontrada um mutação de origem paterna no locus D8S1179 com uma taxa de mutação de 0,003. No grupo controle, foram encontradas 01 mutação no loci D16S539 e no loci D3S1358; 02 mutações no locus Penta E; 04 mutações no locus D21S11 e 03 mutações no locus FGA, compreendendo um total de 11 mutações e uma taxa de mutação de 0,0009. Nesse contexto, não foram encontradas diferenças estatisticamente significativas (p= 0,15) indicando o efeito da exposição e taxa de mutação em locos STR no grupo acidentalmente exposto ao Césio-137.

The Brazilian radiological accident that occurred in 1987, in Goiânia, it was a terrible radiation episode. As a consequence, hundreds of people were contaminated due to the Cesium-137 radiation. Recently, many studies had shown that genome instabilities, such as, mutations, chromosomal aberrations, micronuclei formation and microsatellite instability and a delay on cellular death are usually reported on mammal cells exposed to ionizing radiation, being considered as a manly risk to humans. Mutations can be spontaneous, and the occurrence is dependent on the organism, or, induced, being associated to…

Advisors/Committee Members: Daniela de Melo e Silva, Alexandre Siqueira Guedes Coelho, Aparecido Divino da Cruz.

Subjects/Keywords: mutação; sequências repetitivas; Césio-137; radiação ionizante; taxa de mutação.; GENETICA; Cesium-137; ionizing radiation; mutation; repetitive sequences; mutation rates

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

APA (6^th Edition):

Costa, E. O. A. (2010). ESTUDO GENÉTICO RETROSPECTIVO DE MUTAÇÕES GERMINATIVAS EM LOCI STR DE INDIVÍDUOS POTENCIALMENTE EXPOSTOS À RADIAÇÃO IONIZANTE. (Thesis). Pontifícia Universidade Católica de Goiás. Retrieved from http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=1055

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):

Costa, Emília Oliveira Alves. “ESTUDO GENÉTICO RETROSPECTIVO DE MUTAÇÕES GERMINATIVAS EM LOCI STR DE INDIVÍDUOS POTENCIALMENTE EXPOSTOS À RADIAÇÃO IONIZANTE.” 2010. Thesis, Pontifícia Universidade Católica de Goiás. Accessed January 22, 2021. http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=1055.

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

MLA Handbook (7^th Edition):

Costa, Emília Oliveira Alves. “ESTUDO GENÉTICO RETROSPECTIVO DE MUTAÇÕES GERMINATIVAS EM LOCI STR DE INDIVÍDUOS POTENCIALMENTE EXPOSTOS À RADIAÇÃO IONIZANTE.” 2010. Web. 22 Jan 2021.

Vancouver:

Costa EOA. ESTUDO GENÉTICO RETROSPECTIVO DE MUTAÇÕES GERMINATIVAS EM LOCI STR DE INDIVÍDUOS POTENCIALMENTE EXPOSTOS À RADIAÇÃO IONIZANTE. [Internet] [Thesis]. Pontifícia Universidade Católica de Goiás; 2010. [cited 2021 Jan 22]. Available from: http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=1055.

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

Council of Science Editors:

Costa EOA. ESTUDO GENÉTICO RETROSPECTIVO DE MUTAÇÕES GERMINATIVAS EM LOCI STR DE INDIVÍDUOS POTENCIALMENTE EXPOSTOS À RADIAÇÃO IONIZANTE. [Thesis]. Pontifícia Universidade Católica de Goiás; 2010. Available from: http://tede.biblioteca.ucg.br/tde_busca/arquivo.php?codArquivo=1055

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

14. Liquori, Alessandro. Deciphering molecular mechanisms of unusual variants in Usher Syndrome : Identification et caractérisation de variants atypiques dans le Syndrome de Usher.

Degree: Docteur es, Génétique moléculaire, 2015, Montpellier

URL: http://www.theses.fr/2015MONTT016

► Le syndrome de Usher (USH) est une maladie transmise selon le mode autosomique récessif caractérisée par l’association d’une surdité congénitale (HL) et d’une rétinite pigmentaire… (more)

Subjects/Keywords: Syndrome de Usher; Ngs; Pseudoexon; Mutation intronique profonde; Épissage; Usher syndrome; Ngs; Pseudoexon; Deep intronic mutation; Splicing

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

APA (6^th Edition):

Liquori, A. (2015). Deciphering molecular mechanisms of unusual variants in Usher Syndrome : Identification et caractérisation de variants atypiques dans le Syndrome de Usher. (Doctoral Dissertation). Montpellier. Retrieved from http://www.theses.fr/2015MONTT016

Chicago Manual of Style (16^th Edition):

Liquori, Alessandro. “Deciphering molecular mechanisms of unusual variants in Usher Syndrome : Identification et caractérisation de variants atypiques dans le Syndrome de Usher.” 2015. Doctoral Dissertation, Montpellier. Accessed January 22, 2021. http://www.theses.fr/2015MONTT016.

MLA Handbook (7^th Edition):

Liquori, Alessandro. “Deciphering molecular mechanisms of unusual variants in Usher Syndrome : Identification et caractérisation de variants atypiques dans le Syndrome de Usher.” 2015. Web. 22 Jan 2021.

Vancouver:

Liquori A. Deciphering molecular mechanisms of unusual variants in Usher Syndrome : Identification et caractérisation de variants atypiques dans le Syndrome de Usher. [Internet] [Doctoral dissertation]. Montpellier; 2015. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2015MONTT016.

Council of Science Editors:

Liquori A. Deciphering molecular mechanisms of unusual variants in Usher Syndrome : Identification et caractérisation de variants atypiques dans le Syndrome de Usher. [Doctoral Dissertation]. Montpellier; 2015. Available from: http://www.theses.fr/2015MONTT016

15. Rocquain, Julien. Recherche de nouvelles cibles moléculaires dans les syndromes myélodysplasiques et leucémies aiguës myéloïdes : Identification of new molecular targets in myelodysplastic syndromes and acute myeloid leukemias.

Degree: Docteur es, Pathologie humaine, 2010, Aix-Marseille 2

URL: http://www.theses.fr/2010AIX20695

►

Au sein des hémopathies myéloïdes malignes, les syndromes myélodysplasiques(SMD) et les leucémies aiguës myéloïdes (LAM) représentent des pathologies complexes ethétérogènes résultant d’anomalies clonales des cellules… (more)

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Au sein des hémopathies myéloïdes malignes, les syndromes myélodysplasiques(SMD) et les leucémies aiguës myéloïdes (LAM) représentent des pathologies complexes ethétérogènes résultant d’anomalies clonales des cellules souches médullaires. Elles sontcaractérisées par une hématopoïèse inefficace provoquant des cytopénies sanguines graves.Les connaissances sur les anomalies moléculaires des SMD et des LAM, notammentà caryotype normal, sont globalement pauvres et leur physiopathologie encore mal connue.Une meilleure définition moléculaire est nécessaire pour une évaluation pronostique plusprécise de ces hémopathies et pour optimiser secondairement les stratégies thérapeutiques.Cette thèse présente un panorama des classifications cytogénétiques et moléculairesactuelles des SMD et LAM ainsi que l’étude de certaines altérations moléculairesrencontrées dans ces maladies.Grâce à l’apport des techniques d’analyse génomique à grande échelle, notamment laCGH-array, notre laboratoire a identifié de nouvelles altérations génétiques, parmi lesquellesles mutations du gène ASXL1, ainsi que des altérations des gènes codant les protéines de laCohésine et des régulateurs de la protéine CBL. Nous avons analysé une combinaison demutations de gène et émis l’hypothèse d’un modèle de leucémogenèse à 4 classes demutations, afin d’apporter des pistes dans la compréhension de la physiopathologie des SMDet LAM.

Among myeloid malignancies, myelodysplastic syndromes (MDSs) represent a groupof complex diseases characterized by clonal abnormalities of bone marrow hematopoieticprecursor cells. They are defined by an ineffective hematopoiesis leading to peripheralcytopenias. About 40% of MDSs secondarily evolve to acute myeloid leukemia (AML).This risk of transformation is evaluated by several international prognostic scoringsystems like IPSS and WPSS. The WHO classification recognizes several classes of MDSsessentially based on morphology and cytogenetics features, some with a high progressionrisk, like refractory anemia with excess of blasts type 2, others with a low risk, likerefractory anemia with ringed sideroblasts. However, the classification of MDSs is stillunsatisfactory and relevant prognostic markers allowing earlier treatments for patients with ahigh risk of transformation are still lacking. The physiopathology of SMDs and AMLs withnormal karyotype remains unclear. Currently, the only potentially curative treatment isallogenic stem cell transplant, which is feasible for a restricted number of patients and candisplay side effects and failures.A better knowledge of the molecular biology of MDSs and AMLs is necessary for abetter understanding of these diseases and may provide new early prognosis indicators andbetter strategies of treatments.

Advisors/Committee Members: Garraud-Mozziconacci, Marie-Joelle (thesis director).

Subjects/Keywords: Syndrome myélodysplasique; Leucémie aiguë myéloïde; Cibles moléculaires; Génomique; Mutation de gène; Myelodysplastic syndrome; Acute myeloid leukemia; Molecular targets; Genomic; Gene mutation

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

APA (6^th Edition):

Rocquain, J. (2010). Recherche de nouvelles cibles moléculaires dans les syndromes myélodysplasiques et leucémies aiguës myéloïdes : Identification of new molecular targets in myelodysplastic syndromes and acute myeloid leukemias. (Doctoral Dissertation). Aix-Marseille 2. Retrieved from http://www.theses.fr/2010AIX20695

Chicago Manual of Style (16^th Edition):

Rocquain, Julien. “Recherche de nouvelles cibles moléculaires dans les syndromes myélodysplasiques et leucémies aiguës myéloïdes : Identification of new molecular targets in myelodysplastic syndromes and acute myeloid leukemias.” 2010. Doctoral Dissertation, Aix-Marseille 2. Accessed January 22, 2021. http://www.theses.fr/2010AIX20695.

MLA Handbook (7^th Edition):

Rocquain, Julien. “Recherche de nouvelles cibles moléculaires dans les syndromes myélodysplasiques et leucémies aiguës myéloïdes : Identification of new molecular targets in myelodysplastic syndromes and acute myeloid leukemias.” 2010. Web. 22 Jan 2021.

Vancouver:

Rocquain J. Recherche de nouvelles cibles moléculaires dans les syndromes myélodysplasiques et leucémies aiguës myéloïdes : Identification of new molecular targets in myelodysplastic syndromes and acute myeloid leukemias. [Internet] [Doctoral dissertation]. Aix-Marseille 2; 2010. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2010AIX20695.

Council of Science Editors:

Rocquain J. Recherche de nouvelles cibles moléculaires dans les syndromes myélodysplasiques et leucémies aiguës myéloïdes : Identification of new molecular targets in myelodysplastic syndromes and acute myeloid leukemias. [Doctoral Dissertation]. Aix-Marseille 2; 2010. Available from: http://www.theses.fr/2010AIX20695

Université Paris-Sud – Paris XI

16. Bergthold, Guillaume. Genomic Profiling of Pediatric Low-Grade Gliomas : Etude des profils génétiques des gliomes de bas-grade pédiatriques.

Degree: Docteur es, Cancérologie, 2015, Université Paris-Sud – Paris XI

URL: http://www.theses.fr/2015PA11T053

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Les gliomes de bas-grade représentent la tumeur cérébrale la plus fréquente chez l’enfant. Elles sont caractérisées par un large spectre de sous-types tumoraux, très hétérogènes.… (more)

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Les gliomes de bas-grade représentent la tumeur cérébrale la plus fréquente chez l’enfant. Elles sont caractérisées par un large spectre de sous-types tumoraux, très hétérogènes. Leur définition actuelle est principalement basée sur des critères histologiques ce qui représente une limite importante car ces classifications souffrent d’un manque de précision. Les progrès récents de la génomique nous permettent d’approfondir considérablement les connaissances sur la biologie de ces tumeurs afin d’enrichir leur classification actuelle. Ce travail présente une analyse approfondie des altérations génomiques de l’ADN et l’ARN des gliomes de bas-grade pédiatriques. Le premier niveau d’analyse se base sur l’analyse du séquençage à haut débit de 169 gliomes de bas-grade de l’enfant. Bien que les mutations des gènes BRAF et FGFR1 sont les plus fréquemment décrites dans ces tumeurs, nous avons identifié pour la première fois le réarrangement chromosomique MYB-QKI majoritairement associé aux gliomes angiocentriques. Dans un deuxième temps ce travail décrit l’analyse du transcriptome de 151 gliomes de bas grade extraits à partir de tissu conservé en paraffine. Nous avons observé des différences moléculaires en fonction de leur sous-type histologique, de la localisation tumorale et de leur statut BRAF. Dans le dernier volet de ce travail, nous avons testé la faisabilité d’isoler par cytométrie en flux une cellule unique en les distinguant selon un marqueur de différenciation glial (A2B5+ et A2B5-) et d’effectuer une analyse transcriptomique à haut-débit en séquençant l’ARN à l’échelle d’une cellule unique. Cette technique nous a permis de décrire des différences moléculaires intéressantes entre des cellules A2B5+ et A2B5-. Ces résultats soulignent l’intérêt d’exploiter des nouvelles technologies de pointe pour servir de base à l’étude des caractéristiques biologiques des cellules tumorales.

Low-grade gliomas represent the most frequent brain tumor arising during childhood. They are characterized by a broad spectrum of tumor types.The definition of low-grade gliomas has been mainly based on morphology. This histological classification of pediatric low-grade gliomas (PLGG), suffers from the lack of reproducibility. The recent progress in molecular biology and genetics has brought new insights in the biology of those tumors and allows better understanding of their biology. This work provides a comprehensive analysis of two different genetic approaches in PLGGs. The first part is based on the description of somatic genetic alterations of the DNA. Using a large PLGG cohort, we have dissect the genome of those tumors and draw the landscape of their genetic alteration. Although BRAF and FGFR1 alterations are predominantly altered, we have discovered a new translocation, MYB-QKI, that is almost exclusively present in a specific histological subgroup; angiocentric gliomasThe second part of the thesis describes transcriptomic analysis of bulk PLGGs. This work describes molecular differences between PLGGs from distinct histologies and…

Advisors/Committee Members: Kieran, Marc (thesis director), Beroukhim, Rameen (thesis director).

Subjects/Keywords: Gliomes de bas-grade; Enfant; Mutation; Génétique; Transcriptome; ?; Low-grade gliomas; Children; Mutation; Genetic; Transcriptomic; Single-cell

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

APA (6^th Edition):

Bergthold, G. (2015). Genomic Profiling of Pediatric Low-Grade Gliomas : Etude des profils génétiques des gliomes de bas-grade pédiatriques. (Doctoral Dissertation). Université Paris-Sud – Paris XI. Retrieved from http://www.theses.fr/2015PA11T053

Chicago Manual of Style (16^th Edition):

Bergthold, Guillaume. “Genomic Profiling of Pediatric Low-Grade Gliomas : Etude des profils génétiques des gliomes de bas-grade pédiatriques.” 2015. Doctoral Dissertation, Université Paris-Sud – Paris XI. Accessed January 22, 2021. http://www.theses.fr/2015PA11T053.

MLA Handbook (7^th Edition):

Bergthold, Guillaume. “Genomic Profiling of Pediatric Low-Grade Gliomas : Etude des profils génétiques des gliomes de bas-grade pédiatriques.” 2015. Web. 22 Jan 2021.

Vancouver:

Bergthold G. Genomic Profiling of Pediatric Low-Grade Gliomas : Etude des profils génétiques des gliomes de bas-grade pédiatriques. [Internet] [Doctoral dissertation]. Université Paris-Sud – Paris XI; 2015. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2015PA11T053.

Council of Science Editors:

Bergthold G. Genomic Profiling of Pediatric Low-Grade Gliomas : Etude des profils génétiques des gliomes de bas-grade pédiatriques. [Doctoral Dissertation]. Université Paris-Sud – Paris XI; 2015. Available from: http://www.theses.fr/2015PA11T053

17. Bugaud, Olivier. Suppression traductionnelle des codons stop chez les mammifères : Translational suppression of stop codons in mammals.

Degree: Docteur es, Sciences de la vie et de la santé, 2016, Université Paris-Saclay (ComUE)

URL: http://www.theses.fr/2016SACLS222

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Entre 10% et 30% des maladies humaines sont liées à l'apparition d'une mutation non-sens (PTC). La synthèse protéique est alors arrêté prématurément. Cet arrêt peut… (more)

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Entre 10% et 30% des maladies humaines sont liées à l'apparition d'une mutation non-sens (PTC). La synthèse protéique est alors arrêté prématurément. Cet arrêt peut être inhibé par des molécules inductrices de translecture qui permettent l’incorporation d’un ARNt suppresseur naturel au niveau du PTC (translecture). Le ribosome peut alors franchir le PTC et restaurer l’expression de la protéine.Au cours de ma thèse, je me suis intéressé à la suppression des codons stop en caractérisant de nouvelles molécules inductrices de translecture et en analysant les mécanismes de la fidélité de la traduction.J’ai tout d’abord mis au point un système de criblage innovant avec lequel j’ai testé plus de 17 000 molécules et identifié la molécule TLN468. J’ai pu mettre en évidence que cette molécule est capable d’induire la réexpression d’une protéine p53 active.J'ai aussi caractérisé de nouveaux composés dérivés d’aminoglycosides. J’ai pu montré que le NB124 est capable d’induire l’apoptose de cellules tumorales via la réexpression de la protéine p53 tout ayant une toxicité bien plus faible que la gentamicine.En parallèle, j’ai développé une approche en molécule unique permettant d’étudier les erreurs programmées du ribosome (recodage). J’ai ainsi pu analyser la cinétique d’élongation des ribosomes eucaryotes et montré que l’initiation de la traduction sur un site d’entrée interne (IRES) ralentit le ribosome lors des premiers cycles d’élongation.

Nonsense mutations, also known as premature termination codons (PTCs) are responsible for 10% to 30% of all human genetic diseases. Nonsense translation suppression can be induced by readthrough inducers. The presence of such PTC leads to premature translation termination. These stop therapeutic strategies have emerged which attempt to use molecules that facilitate tRNA incorporation at the PTC (readthrough). The, translation continue in the same reading frame until the next stop codon. I first developed an innovative screening system I used to test more than 17,000 molecules and have identified one hit, TLN468 molecule. I have shown that this molecule is able to induce re-expression of an active p53 protein.I also characterized new compounds derived from aminoglycosides. I have shown that the NB124 induces apoptosis of tumor cells by re-expressing p53 protein while having a much lower toxicity than gentamicin.I developed a single molecule approach for studying the ribosome programmed errors (recoding). I was able to analyze the kinetics of elongation eukaryotic ribosomes and showed that the initiation of translation at an internal entry site (IRES) slows the ribosome during the first elongation cycle.

Advisors/Committee Members: Namy, Olivier (thesis director).

Subjects/Keywords: Terminaison de la traduction; Mutation non-Sens / codon stop prématuré; Translecture; Aminoglycosides; Translation termination; Nonsense mutation / premature stop codon; Readthrough; Aminoglycosides

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

APA (6^th Edition):

Bugaud, O. (2016). Suppression traductionnelle des codons stop chez les mammifères : Translational suppression of stop codons in mammals. (Doctoral Dissertation). Université Paris-Saclay (ComUE). Retrieved from http://www.theses.fr/2016SACLS222

Chicago Manual of Style (16^th Edition):

Bugaud, Olivier. “Suppression traductionnelle des codons stop chez les mammifères : Translational suppression of stop codons in mammals.” 2016. Doctoral Dissertation, Université Paris-Saclay (ComUE). Accessed January 22, 2021. http://www.theses.fr/2016SACLS222.

MLA Handbook (7^th Edition):

Bugaud, Olivier. “Suppression traductionnelle des codons stop chez les mammifères : Translational suppression of stop codons in mammals.” 2016. Web. 22 Jan 2021.

Vancouver:

Bugaud O. Suppression traductionnelle des codons stop chez les mammifères : Translational suppression of stop codons in mammals. [Internet] [Doctoral dissertation]. Université Paris-Saclay (ComUE); 2016. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2016SACLS222.

Council of Science Editors:

Bugaud O. Suppression traductionnelle des codons stop chez les mammifères : Translational suppression of stop codons in mammals. [Doctoral Dissertation]. Université Paris-Saclay (ComUE); 2016. Available from: http://www.theses.fr/2016SACLS222

18. Jallet, Arthur. Effet de la sélection fluctuante sur le pathogène du blé Zymoseptoria tritici par une approche d'évolution expérimentale : Effect of fluctuating selection on the wheat pathogen Zymoseptoria tritici using an experimental evolution approach.

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

URL: http://www.theses.fr/2019SACLS349

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Un défi important en Biologie est de comprendre comment les organismes s’adaptent à des environnements fluctuants et de déterminer l’importance relative de la plasticité phénotypique… (more)

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Un défi important en Biologie est de comprendre comment les organismes s’adaptent à des environnements fluctuants et de déterminer l’importance relative de la plasticité phénotypique et des mutations dans cette adaptation. Nous avons examiné la réponse d’un pathogène du blé (Zymoseptoria tritici) aux fluctuations de température grâce à des approches de transcriptomique, de phénotypage (fitness relative et pathogénie) et de génomique. Pour cela, une évolution expérimentale a été menée in vitro à partir de deux clones ayant évolué dans trois régimes thermiques : à 17°C, à 23°C et en température fluctuante. Le niveau d’expression de 11% du génome a évolué de manière distincte entre les deux génotypes fondateurs en conditions de fluctuations. Nous avons également observé une plus forte densité de gènes différentiellement exprimés dans des régions connues pour être riches en éléments transposables. L’évolution en conditions fluctuantes a favorisé la robustesse du transcriptome. La fitness relative estimée dans les conditions d’évolution a augmenté uniquement pour les lignées fluctuantes issues d’un des deux génotypes fondateurs. La différence de croissance entre les deux ancêtres en conditions de fluctuations et leur différent niveau de plasticité d’expression pourraient expliquer ces résultats différents. Enfin, nous avons observé : i). des pertes de pathogénie in planta suite à l’évolution à 17°C et en fluctuations, ii). aucune perte de chromosomes accessoires, iii). de nombreuses mutations dans le génome, dont des mutations codantes dans des effecteurs. Ces travaux apportent de nombreux éléments de compréhension des mécanismes évolutifs et moléculaires sous-jacents à l’évolution de Z. tritici dans des environnements variables.

An important challenge in Biology is to understand how organisms adapt to fluctuating environments and to determine the relative significance of phenotypic plasticity and mutations in this adaptation. We examined the response of a wheat pathogen (Zymoseptoria tritici) to temperature fluctuations using transcriptomics, phenotyping (relative fitness and disease level) and genomics. With this goal, we conducted an in vitro experimental evolution from two Z. tritici clones that evolved in three thermal conditions: at 17°C, at 23°C and under temperature fluctuations. Expression level of 11% of the genome evolved in a different way between the two founder genotypes that evolved under fluctuating conditions. We also observed a higher density of differentially expressed genes in regions known to be enriched in transposable elements. Evolution under fluctuating selection promoted robustness of the transcriptome. The relative fitness estimated in the same conditions as for the experimental evolution did increase for fluctuating lineages only for one of the founder genotypes. The difference of growth between the two ancestors in fluctuating conditions and their distinct level of expression plasticity could explain these opposite results. Finally we observed: i). in planta pathogenicity losses for…

Advisors/Committee Members: Genissel, Anne (thesis director).

Subjects/Keywords: Expression de gènes; Fitness relative; Fluctuation; Mutation; Phytopathogène; Plasticité phénotypique; Fluctuation; Gene expression; Mutation; Phenotypic plasticity; Plant pathogen; Relative fitness

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APA (6^th Edition):

Jallet, A. (2019). Effet de la sélection fluctuante sur le pathogène du blé Zymoseptoria tritici par une approche d'évolution expérimentale : Effect of fluctuating selection on the wheat pathogen Zymoseptoria tritici using an experimental evolution approach. (Doctoral Dissertation). Université Paris-Saclay (ComUE). Retrieved from http://www.theses.fr/2019SACLS349

Chicago Manual of Style (16^th Edition):

Jallet, Arthur. “Effet de la sélection fluctuante sur le pathogène du blé Zymoseptoria tritici par une approche d'évolution expérimentale : Effect of fluctuating selection on the wheat pathogen Zymoseptoria tritici using an experimental evolution approach.” 2019. Doctoral Dissertation, Université Paris-Saclay (ComUE). Accessed January 22, 2021. http://www.theses.fr/2019SACLS349.

MLA Handbook (7^th Edition):

Jallet, Arthur. “Effet de la sélection fluctuante sur le pathogène du blé Zymoseptoria tritici par une approche d'évolution expérimentale : Effect of fluctuating selection on the wheat pathogen Zymoseptoria tritici using an experimental evolution approach.” 2019. Web. 22 Jan 2021.

Vancouver:

Jallet A. Effet de la sélection fluctuante sur le pathogène du blé Zymoseptoria tritici par une approche d'évolution expérimentale : Effect of fluctuating selection on the wheat pathogen Zymoseptoria tritici using an experimental evolution approach. [Internet] [Doctoral dissertation]. Université Paris-Saclay (ComUE); 2019. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2019SACLS349.

Council of Science Editors:

Jallet A. Effet de la sélection fluctuante sur le pathogène du blé Zymoseptoria tritici par une approche d'évolution expérimentale : Effect of fluctuating selection on the wheat pathogen Zymoseptoria tritici using an experimental evolution approach. [Doctoral Dissertation]. Université Paris-Saclay (ComUE); 2019. Available from: http://www.theses.fr/2019SACLS349

19. Brasil, Amanda Salem. Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas síndromes Noonan-like.

Degree: Mestrado, Pediatria, 2009, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-25022010-140048/ ;

► INTRODUÇÃO: a síndrome de Noonan apresenta herança autossômica dominante e é considerada uma doença relativamente frequente na população, com uma incidência estimada entre 1/1000 e… (more)

Subjects/Keywords: Mutação; Mutation; Noonan syndrome; Polimorfismo genético; Polymorphism genetic; Síndrome de Noonan

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APA (6^th Edition):

Brasil, A. S. (2009). Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas síndromes Noonan-like. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/5/5141/tde-25022010-140048/ ;

Chicago Manual of Style (16^th Edition):

Brasil, Amanda Salem. “Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas síndromes Noonan-like.” 2009. Masters Thesis, University of São Paulo. Accessed January 22, 2021. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-25022010-140048/ ;.

MLA Handbook (7^th Edition):

Brasil, Amanda Salem. “Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas síndromes Noonan-like.” 2009. Web. 22 Jan 2021.

Vancouver:

Brasil AS. Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas síndromes Noonan-like. [Internet] [Masters thesis]. University of São Paulo; 2009. [cited 2021 Jan 22]. Available from: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-25022010-140048/ ;.

Council of Science Editors:

Brasil AS. Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas síndromes Noonan-like. [Masters Thesis]. University of São Paulo; 2009. Available from: http://www.teses.usp.br/teses/disponiveis/5/5141/tde-25022010-140048/ ;

University of Houston

20. Zhang, Shuo 1989-. Evolution of P-element Repression in Drosophila Melanogaster through the Piwi-Interacting RNA Pathway.

Degree: PhD, Biology, 2019, University of Houston

URL: http://hdl.handle.net/10657/4697

► Transposable elements (TEs) are ubiquitous and selfish genetic entities whose mobilization poses a significant threat to their host. In the germline of metazoan, the Piwi-interacting… (more)

▼ Transposable elements (TEs) are ubiquitous and selfish genetic entities whose mobilization poses a significant threat to their host. In the germline of metazoan, the Piwi-interacting RNAs (piRNAs) derived from TE-enriched loci (called piRNA clusters) regulate TE activity in a sequence specific manner. However, the emergence and dynamics of piRNA-mediated repressor alleles to an invading TE remain elusive. P-element, a DNA transposon that recently invaded the D. melanogaster genome around 1950, provides a unique opportunity to study the evolution of host repression. In this dissertation, I first adapted a targeted sequencing strategy and developed a computational pipeline to annotate P-element insertions in a sequenced Drosophila melanogaster genome. My approach precisely determined P-element insertion breakpoints and found new P-element insertions, which were undetected by previously methods. Next, I modified the pipeline to annotate P-element insertions in the Drosophila melanogaster genetic reference panel (DGRP), a panel composed of 205 fully sequenced inbred lines. I found over 90% of DGRP genomes have P-elements in ancestral piRNA clusters that are active prior to the P-element invasion. This indicates de novo mutation, in which P-elements transpose into pre-existing piRNA clusters, is the predominant mechanism for the origin of repressor alleles. Moreover, I detected no fewer than 84 independent P-element insertions in ancestral piRNA clusters. Finally, I observed that P-element insertions in piRNA clusters segregate at significant higher frequency than P-elements outside of piRNA clusters, suggesting that cluster P-elements confer a selective advantage. Taken together, my results revealed a striking example of polygenic adaptation, in which a plethora of de novo beneficial P-element insertions into multiple piRNA clusters, fueled the evolution of a ubiquitous repressive phenotype in <60 years. Advisors/Committee Members: Kelleher, Erin S. (advisor), Azevedo, Ricardo B. R. (committee member), Stewart, Alexander J. (committee member), Casola, Claudio (committee member).

Subjects/Keywords: Transposable element; P-element; PiRNA; De novo mutation; Polygenic adaptation

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

APA (6^th Edition):

Zhang, S. 1. (2019). Evolution of P-element Repression in Drosophila Melanogaster through the Piwi-Interacting RNA Pathway. (Doctoral Dissertation). University of Houston. Retrieved from http://hdl.handle.net/10657/4697

Chicago Manual of Style (16^th Edition):

Zhang, Shuo 1989-. “Evolution of P-element Repression in Drosophila Melanogaster through the Piwi-Interacting RNA Pathway.” 2019. Doctoral Dissertation, University of Houston. Accessed January 22, 2021. http://hdl.handle.net/10657/4697.

MLA Handbook (7^th Edition):

Zhang, Shuo 1989-. “Evolution of P-element Repression in Drosophila Melanogaster through the Piwi-Interacting RNA Pathway.” 2019. Web. 22 Jan 2021.

Vancouver:

Zhang S1. Evolution of P-element Repression in Drosophila Melanogaster through the Piwi-Interacting RNA Pathway. [Internet] [Doctoral dissertation]. University of Houston; 2019. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10657/4697.

Council of Science Editors:

Zhang S1. Evolution of P-element Repression in Drosophila Melanogaster through the Piwi-Interacting RNA Pathway. [Doctoral Dissertation]. University of Houston; 2019. Available from: http://hdl.handle.net/10657/4697

Universitat Autònoma de Barcelona

21. Etxaniz Ulazia, Olatz. Investigación de las mutaciones de los genes de IDH1 y 2 en los gliomas de bajo grado.

Degree: Departament de Medicina, 2017, Universitat Autònoma de Barcelona

URL: http://hdl.handle.net/10803/405523

► Management of low-grade gliomas (LGG) is based on clinical and radiologic features, including the Pignatti prognostic scoring system, which classifies patients as low- or high-risk.… (more)

Subjects/Keywords: Gliomes; Gliomas; IDH; Mutació; Mutación; Mutation; Ciències de la Salut; 61

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APA (6^th Edition):

Etxaniz Ulazia, O. (2017). Investigación de las mutaciones de los genes de IDH1 y 2 en los gliomas de bajo grado. (Thesis). Universitat Autònoma de Barcelona. Retrieved from http://hdl.handle.net/10803/405523

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):

Etxaniz Ulazia, Olatz. “Investigación de las mutaciones de los genes de IDH1 y 2 en los gliomas de bajo grado.” 2017. Thesis, Universitat Autònoma de Barcelona. Accessed January 22, 2021. http://hdl.handle.net/10803/405523.

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

MLA Handbook (7^th Edition):

Etxaniz Ulazia, Olatz. “Investigación de las mutaciones de los genes de IDH1 y 2 en los gliomas de bajo grado.” 2017. Web. 22 Jan 2021.

Vancouver:

Etxaniz Ulazia O. Investigación de las mutaciones de los genes de IDH1 y 2 en los gliomas de bajo grado. [Internet] [Thesis]. Universitat Autònoma de Barcelona; 2017. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10803/405523.

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

Council of Science Editors:

Etxaniz Ulazia O. Investigación de las mutaciones de los genes de IDH1 y 2 en los gliomas de bajo grado. [Thesis]. Universitat Autònoma de Barcelona; 2017. Available from: http://hdl.handle.net/10803/405523

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

University of Washington

22. Geisheker, Madeleine. De novo missense mutations in neurodevelopmental disorders.

Degree: PhD, 2019, University of Washington

URL: http://hdl.handle.net/1773/44273

► Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder (NDD) with a high prevalence in the US (1 in 59 children). It is commonly comorbid… (more)

▼ Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder (NDD) with a high prevalence in the US (1 in 59 children). It is commonly comorbid with other NDDs such as developmental delay (DD), intellectual disability (ID), and epilepsy (EPI). In this thesis, I examine the role of de novo missense mutations in NDDs with a goal of identifying genes and specific mutations that are candidates for pathogenicity. I characterize the aggregate signal for de novo missense mutations in 8,477 NDD cases, finding both quantitative and qualitative differences between mutations in cases and controls. I also find 40 amino acids that bear de novo substitutions in two or more unrelated individuals and develop a tool to assess the likelihood of these observations in the context of stochastic de novo events. I then use targeted sequencing to further establish the association of these recurrent mutations with disease. Upon finding the same p.Ala646Thr substitution in five cases in glutamate receptor subunit GRIA1, I carry out functional experiments that show alterations in ion flux. I also assessed clustering of de novo missense mutations as this pattern is associated with NDDs, such as Schinzel-Giedion syndrome. I used an unsupervised clustering algorithm, CLUMP, to compare the distribution of de novo missense mutations in NDD cases with private missense events in controls and found 200 genes that were significantly more clustered (p < 0.05). As this set of genes is enriched for neuronal functions, a known association of NDD risk genes, it is likely that clustering is a valid feature for identification of disease genes. With increased exome sequencing on NDD cases, I was able to assess de novo mutation burden in 10,927 cases with ASD, DD, or ID. With two different models, I found 253 total genes with more de novo mutations than expected, 123 of which have a burden of missense mutations. Protein-protein interaction and enrichment analyses of genes with a burden of mutation finds that those with a burden of truncating mutations have roles in transcription regulation while those with missense burden have roles in synaptic signaling. This same neuronal enrichment, including in the amygdala and cortex during fetal development, is seen in genes with clustered de novo missense mutations. Interestingly, the phenotypes of patients with missense mutations in a novel gene, TRRAP, segregate with mutation clustering, suggesting the biological relevance of this pattern of mutation. As burden analysis only identified some of the expected pathogenic NDD genes, I included mutations from patients with EPI to my discovery set. Novel genes identified with this addition are enriched for expression in the striatum. Targeted sequencing of these hotspots of mutation identified additional substitutions at 20 recurrent sites and established 28 new recurrent sites. Eighteen of the sites are known to be pathogenic, and some evidence supports the disease association of the remaining 30 sites. Continued assessment of genes with these patterns of… Advisors/Committee Members: Eichler, Evan E (advisor).

Subjects/Keywords: Autism; Clustering; De novo; Mutation; Neurodevelopmental disorders; Genetics; Neurosciences; Genetics

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

APA (6^th Edition):

Geisheker, M. (2019). De novo missense mutations in neurodevelopmental disorders. (Doctoral Dissertation). University of Washington. Retrieved from http://hdl.handle.net/1773/44273

Chicago Manual of Style (16^th Edition):

Geisheker, Madeleine. “De novo missense mutations in neurodevelopmental disorders.” 2019. Doctoral Dissertation, University of Washington. Accessed January 22, 2021. http://hdl.handle.net/1773/44273.

MLA Handbook (7^th Edition):

Geisheker, Madeleine. “De novo missense mutations in neurodevelopmental disorders.” 2019. Web. 22 Jan 2021.

Vancouver:

Geisheker M. De novo missense mutations in neurodevelopmental disorders. [Internet] [Doctoral dissertation]. University of Washington; 2019. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1773/44273.

Council of Science Editors:

Geisheker M. De novo missense mutations in neurodevelopmental disorders. [Doctoral Dissertation]. University of Washington; 2019. Available from: http://hdl.handle.net/1773/44273

Universidade Estadual de Campinas

23. Vitorino, Mariela Thim, 1990-. Análise da ação do sistema lisina descarboxilase em uma linhagem de "Escherichia coli" patogênica para aves (APEC) causadora da sindrome de cabeça inchada: Analyses of the action of the lisine decarboxylase system in a avian pathogenic "Escherichia coli"(APEC) line causing syndrome.

Degree: 2019, Universidade Estadual de Campinas

URL: http://repositorio.unicamp.br/jspui/handle/REPOSIP/336216

► Abstract: "Escherichia coli" is a Gram negative, non-sporulated, negative oxidase, peritoneal flagellate, or immobile rod. This bacterium is present in the gastrointestinal tract of humans… (more)

▼ Abstract: "Escherichia coli" is a Gram negative, non-sporulated, negative oxidase, peritoneal flagellate, or immobile rod. This bacterium is present in the gastrointestinal tract of humans and other animals, constituting part of the normal microbiota. There are, however, lineages that are also pathogenic. Among the pathogenic strains, those called avian pathogenic Escherichia coli (APEC) are responsible for several pathological processes. In general, infections caused by APEC are collectively termed colibacillosis and pose a serious economic threat to poultry production in all countries because they produce significant levels of mortality and morbidity. Although several genes and genetic mechanisms have already been described as responsible for the pathogenicity and virulence mechanisms of APEC strains, many others may still exist due to the genetic heterogeneity of this bacterial population. Some studies have shown that the Operon Lysine Descarboxylase (CAD) influences characteristics of Shigella strains, diarrheagenic E. coli strains of human origin and Salmonella, among others, mediating a "pathoadaptative" effect on pathogenicity and other biological characteristics of the different studied strains. As in APEC strains, as far as we know, there are no studies involving the CAD operon (cadA, cadB, cadC genes), so we decided to study genes possibly involved with the pathogenicity of an APEC strain causing Swollen Head Syndrome (SCI- 07) and verify its effect through its biological or virulence characteristics, compared to the original wild line and its complemented line. The results obtained here allow us to see that the cadC gene has a great influence on pathogenicity in SCI 07 - APEC birds, significantly reducing mortality in day-old birds Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Dias da Silveira, Wanderley, 1956- (advisor), Universidade Estadual de Campinas. Instituto de Biologia (institution), Programa de Pós-Graduação em Genética e Biologia Molecular (nameofprogram), Brocchi, Marcelo (committee member), Ramos, Marcelo de Carvalho (committee member), Nakazato, Gerson (committee member), Kobayashi, Renata Katsuko Takayama (committee member).

Subjects/Keywords: Análise de mutantes; Óperon; Escherichia coli; Mutation analysis; Operons; Escherichia coli

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

APA (6^th Edition):

Vitorino, Mariela Thim, 1. (2019). Análise da ação do sistema lisina descarboxilase em uma linhagem de "Escherichia coli" patogênica para aves (APEC) causadora da sindrome de cabeça inchada: Analyses of the action of the lisine decarboxylase system in a avian pathogenic "Escherichia coli"(APEC) line causing syndrome. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/336216

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):

Vitorino, Mariela Thim, 1990-. “Análise da ação do sistema lisina descarboxilase em uma linhagem de "Escherichia coli" patogênica para aves (APEC) causadora da sindrome de cabeça inchada: Analyses of the action of the lisine decarboxylase system in a avian pathogenic "Escherichia coli"(APEC) line causing syndrome.” 2019. Thesis, Universidade Estadual de Campinas. Accessed January 22, 2021. http://repositorio.unicamp.br/jspui/handle/REPOSIP/336216.

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

MLA Handbook (7^th Edition):

Vitorino, Mariela Thim, 1990-. “Análise da ação do sistema lisina descarboxilase em uma linhagem de "Escherichia coli" patogênica para aves (APEC) causadora da sindrome de cabeça inchada: Analyses of the action of the lisine decarboxylase system in a avian pathogenic "Escherichia coli"(APEC) line causing syndrome.” 2019. Web. 22 Jan 2021.

Vancouver:

Vitorino, Mariela Thim 1. Análise da ação do sistema lisina descarboxilase em uma linhagem de "Escherichia coli" patogênica para aves (APEC) causadora da sindrome de cabeça inchada: Analyses of the action of the lisine decarboxylase system in a avian pathogenic "Escherichia coli"(APEC) line causing syndrome. [Internet] [Thesis]. Universidade Estadual de Campinas; 2019. [cited 2021 Jan 22]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/336216.

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

Council of Science Editors:

Vitorino, Mariela Thim 1. Análise da ação do sistema lisina descarboxilase em uma linhagem de "Escherichia coli" patogênica para aves (APEC) causadora da sindrome de cabeça inchada: Analyses of the action of the lisine decarboxylase system in a avian pathogenic "Escherichia coli"(APEC) line causing syndrome. [Thesis]. Universidade Estadual de Campinas; 2019. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/336216

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

California State Polytechnic University – Pomona

24. Woon, Rex. Methods of Large Scale Linear Regression.

Degree: MS, Mathematics, 2016, California State Polytechnic University – Pomona

URL: http://hdl.handle.net/10211.3/173470

► Sets of data used for business and research are rapidly increasing in size. The problem of analysis on big data has becoming a pressing concern… (more)

Subjects/Keywords: R

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APA (6^th Edition):

Woon, R. (2016). Methods of Large Scale Linear Regression. (Masters Thesis). California State Polytechnic University – Pomona. Retrieved from http://hdl.handle.net/10211.3/173470

Chicago Manual of Style (16^th Edition):

Woon, Rex. “Methods of Large Scale Linear Regression.” 2016. Masters Thesis, California State Polytechnic University – Pomona. Accessed January 22, 2021. http://hdl.handle.net/10211.3/173470.

MLA Handbook (7^th Edition):

Woon, Rex. “Methods of Large Scale Linear Regression.” 2016. Web. 22 Jan 2021.

Vancouver:

Woon R. Methods of Large Scale Linear Regression. [Internet] [Masters thesis]. California State Polytechnic University – Pomona; 2016. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10211.3/173470.

Council of Science Editors:

Woon R. Methods of Large Scale Linear Regression. [Masters Thesis]. California State Polytechnic University – Pomona; 2016. Available from: http://hdl.handle.net/10211.3/173470

25. Campanha, Diogo Nascimento. Teste de mutação nos paradigmas procedimental e oo: uma avaliação no contexto de estrutura de dados.

Degree: Mestrado, Ciências de Computação e Matemática Computacional, 2010, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/55/55134/tde-14022011-151308/ ;

►

Com o objetivo de auxiliar a definição e evolução de estratégias de testes, estudos experimentais vêm sendo realizados comparando diferentes técnicas e critérios de teste… (more)

▼

Com o objetivo de auxiliar a definição e evolução de estratégias de testes, estudos experimentais vêm sendo realizados comparando diferentes técnicas e critérios de teste em relação ao custo, eficácia e dificuldade de satisfação (strength). Entretanto poucos estudos buscam avaliar os critérios em diferentes paradigmas. Esta avaliação é importante pois o paradigma de implementação influência significativamente no programa gerado e as características entre programas implementados em diferentes paradigmas pode influenciar em diversos aspectos da atividade de teste. Este estudo é complementar a um outro trabalho do grupo do laboratório de engenharia de software do ICMC em que foram comparados o custo da aplicação dos critérios da técnica Estrutural em relação aos paradigmas Procedimental e Orientado a Objetos. Este trabalho apresenta um estudo experimental comparando o custo e o strength do critério Análise de Mutantes nos dois paradigmas. Além da avaliação do critério Análise de Mutantes, o material gerado para este estudo será construído de forma que possa ser utilizado para o ensino e treinamento das principais técnicas e critérios de teste e espera-se que este possa contribuir de alguma forma para que o ensino de teste de software possa ser aplicado em paralelo com o ensino de algoritmos e estrutura de dados. Para a condução deste estudo, foi utilizado um conjunto de 32 programas do domínio de estrutura de dados com versões implementadas em C e em Java. O critério Análise de Mutantes foi aplicado com auxílio das ferramentas Proteum e MuClipse. Para a avaliação do strength, o conjunto de casos de teste adequado a um programa foi executado contra os mutantes gerados na mesma versão do programa implementado no outro paradigma de interesse e o escore de mutação avaliado (cross scoring). Resultados indicam que tanto o custo quanto o strength do teste de mutação é maior em programas implementados no paradigma Procedimental do que no paradigma OO. Resultados estes certamente influenciados pelo conjunto de operadores implementado nas duas ferramentas. No paradigma procedimental, também foi avaliado o escore de mutação obtido por um subconjunto dos operadores da Proteum, construído com o objetivo de reduzir o custo da aplicação do critério. O escore obtido foi satisfatório e as reduções no custo significativas. Também foi avaliado strength das técnicas Funcional e Estrutural em relação ao critério AM nos dois paradigmas. Os resultados mostram que os conjuntos de casos de teste adequados aos critérios das técnicas Funcional e Estrutural no paradigma OO obtiveram, em geral, um escore de mutação maior do que no paradigma Procedimental

AIming at to assist the definition and evolution of testing strategies, empirical studies have been conducted comparing the test criteria in terms of cost effectiveness and strength. However few studies were conducted comparing the criteria in different paradigms. This assessment is important because program paradigm can cause a big influence in the result program and the characteristics of this…

Advisors/Committee Members: Maldonado, José Carlos.

Subjects/Keywords: Análise de mutantes; Mutation test; Paradigma de programação; Programming paradigm; Software testing; Teste de software

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APA (6^th Edition):

Campanha, D. N. (2010). Teste de mutação nos paradigmas procedimental e oo: uma avaliação no contexto de estrutura de dados. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/55/55134/tde-14022011-151308/ ;

Chicago Manual of Style (16^th Edition):

Campanha, Diogo Nascimento. “Teste de mutação nos paradigmas procedimental e oo: uma avaliação no contexto de estrutura de dados.” 2010. Masters Thesis, University of São Paulo. Accessed January 22, 2021. http://www.teses.usp.br/teses/disponiveis/55/55134/tde-14022011-151308/ ;.

MLA Handbook (7^th Edition):

Campanha, Diogo Nascimento. “Teste de mutação nos paradigmas procedimental e oo: uma avaliação no contexto de estrutura de dados.” 2010. Web. 22 Jan 2021.

Vancouver:

Campanha DN. Teste de mutação nos paradigmas procedimental e oo: uma avaliação no contexto de estrutura de dados. [Internet] [Masters thesis]. University of São Paulo; 2010. [cited 2021 Jan 22]. Available from: http://www.teses.usp.br/teses/disponiveis/55/55134/tde-14022011-151308/ ;.

Council of Science Editors:

Campanha DN. Teste de mutação nos paradigmas procedimental e oo: uma avaliação no contexto de estrutura de dados. [Masters Thesis]. University of São Paulo; 2010. Available from: http://www.teses.usp.br/teses/disponiveis/55/55134/tde-14022011-151308/ ;

26. Al-Zaum, Abdulmalek. La part de la Syrie dans la littérature de voyage dans les pays du Levant du XIXe siècle : The Role of Syria in travel literature in the Levant region in the 19th century.

Degree: Docteur es, Lettres Modernes, 2011, Université François-Rabelais de Tours

URL: http://www.theses.fr/2011TOUR2026

►

La position a priori anti-ottomane, élaborée par des philosophes comme Volney et Montesquieu, en Syrie a été largement partagée par les voyageurs du XIXe siècle… (more)

▼

La position a priori anti-ottomane, élaborée par des philosophes comme Volney et Montesquieu, en Syrie a été largement partagée par les voyageurs du XIXe siècle et même complétée par l'ensemble des travaux réalisés tout au long du XIXe siècle. Ainsi, voyageurs scientifiques, philosophes, consuls, journalistes ou même poètes, se sont presque tous impliqués dans l'élaboration et la circulation des clichés et des idées reçues sur la Syrie et sur le système turc en Syrie perçu comme une tyrannie globale. Les voyageurs participent ainsi avec leurs écrits, directement ou indirectement, à pérenniser la vision du « despotisme oriental» élaborée par leurs prédécesseurs et relayée dans un premier temps par Volney. Celui-ci, à peine arrivé en Syrie en 1783, dénonçait la misère dont il rendait aussitôt responsables les Turcs. Les autres voyageurs ont presque tous fait le concept de despotisme oriental et ont approuvé dans leurs récits l'auteur du Voyage en Égypte et en Syrie. D'une manière générale, on comprend que l'espace syrien évoque aux voyageurs des souvenirs ancestraux et leur rappelle un passé aussi bien religieux qu'historique parfois très proche. Par là-même, la Syrie, exotique, mythique ou pittoresque, a représenté un intérêt tout particulier pour les voyageurs-écrivains, les touristes et les scientifiques en quête d'exotisme et d'un retour aux sources.

The a priori anti-Ottoman position, developed by philosophers such as Volney and Montesquieu, in Syria, was largely shared by travelers in the 19th century. This preconceived philosophy was reinforced and "completed" by the entire collection of works written throughout the 19th century. Traveling scientists, philosophers, consuls, journalists, and even poets were almost all involved in developing and circulating ideas and clichés regarding Syria and the idea that Turkish rule in Syria was tyrannous. Travelers, as well as their writings, directly or indirectly perpetuated the vision of "Oriental tyranny." This vision, developed by predecessors, was first communicated in writing by Volney. In 1783, he had barely just arrived in Syria, when he began denouncing the misery he encountered, forwhich he held Turkish officials immediately responsible. Other travelers almost all supported the idea of "Oriental Tyranny" and agreed with the author of Voyage en Egypte et en Syrie in their writings.Generally speaking, Syria makes travelers think of their forefathers and reminds them of the past (in both a historic and religious context) that is in reality not that distant from the present. Moreover, those in search of getting back to the basics and the exotic; traveling writers, tourists, and scientists, took a particular interest in the exotic, mythic or picturesque Syria.

Advisors/Committee Members: Tatin-Gourier, Jean-Jacques (thesis director).

Subjects/Keywords: Islam; Récit; Empire ottoman; Désert; Ruine antique; Journal de voyage; Ecrivain voyageur; Grand tour; N/R; N/R; N/R

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APA (6^th Edition):

Al-Zaum, A. (2011). La part de la Syrie dans la littérature de voyage dans les pays du Levant du XIXe siècle : The Role of Syria in travel literature in the Levant region in the 19th century. (Doctoral Dissertation). Université François-Rabelais de Tours. Retrieved from http://www.theses.fr/2011TOUR2026

Chicago Manual of Style (16^th Edition):

Al-Zaum, Abdulmalek. “La part de la Syrie dans la littérature de voyage dans les pays du Levant du XIXe siècle : The Role of Syria in travel literature in the Levant region in the 19th century.” 2011. Doctoral Dissertation, Université François-Rabelais de Tours. Accessed January 22, 2021. http://www.theses.fr/2011TOUR2026.

MLA Handbook (7^th Edition):

Al-Zaum, Abdulmalek. “La part de la Syrie dans la littérature de voyage dans les pays du Levant du XIXe siècle : The Role of Syria in travel literature in the Levant region in the 19th century.” 2011. Web. 22 Jan 2021.

Vancouver:

Al-Zaum A. La part de la Syrie dans la littérature de voyage dans les pays du Levant du XIXe siècle : The Role of Syria in travel literature in the Levant region in the 19th century. [Internet] [Doctoral dissertation]. Université François-Rabelais de Tours; 2011. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2011TOUR2026.

Council of Science Editors:

Al-Zaum A. La part de la Syrie dans la littérature de voyage dans les pays du Levant du XIXe siècle : The Role of Syria in travel literature in the Levant region in the 19th century. [Doctoral Dissertation]. Université François-Rabelais de Tours; 2011. Available from: http://www.theses.fr/2011TOUR2026

27. Pauper, Eva. Étude des gènes R-spondin1 et Sox9, impliqués dans les inversions de sexe et l’homéostasie de l’ovaire adulte chez la souris : Study of the genes R-spondin1 and Sox9, implicated in sex reversals and in the adult ovary homeostasis in mice.

Degree: Docteur es, Interactions moléculaires et cellulaires, 2014, Nice

URL: http://www.theses.fr/2014NICE4054

►

Mon laboratoire d’accueil a participé à l’identification du gène R-spondin1, dont les mutations sont responsables d’anomalies cutanées telles que l’hyperkératose palmo-plantaire, les prédispositions aux cancers… (more)

▼

Mon laboratoire d’accueil a participé à l’identification du gène R-spondin1, dont les mutations sont responsables d’anomalies cutanées telles que l’hyperkératose palmo-plantaire, les prédispositions aux cancers spinocellulaires et certains types d’inversions de sexe. La génération du modèle murin a permis de montrer que RSPO1, un activateur de la voie de signalisation Wnt/ßcatenin, est nécessaire à la différenciation ovarienne. R-spondin1 et Sox9 sont connus comme étant des facteurs clé de la détermination du sexe femelle et mâle respectivement. J’ai tout d’abord participé à l’étude de leur fonction dans les pathologies d’inversions de sexe afin de déterminer le rôle de chacune de ces voies dans ces processus. L’étude de 2 modèles murins, d’invalidation conditionnelle du gène Sox9, ainsi que de double invalidation des gènes Sox9 et R-spondin1, a permis de montrer que la détermination du sexe est une balance entre la voie de signalisation mâle activée par les Sox et la voie de signalisation femelle activée par R-spondin1. Dans la 2ème partie de ma thèse j’ai évalué le rôle de R-spondin1 dans la physiologie de l’ovaire post-natal en étudiant un modèle murin de gain-de-fonction de R-spondin1 dans l’ovaire, puisque celui-ci est normalement faiblement exprimé au stade adulte. Cette partie de l ‘étude a démontré que le maintien de l'expression de R-spondin1 empêche les cellules nourricières de l’ovaire, les cellules de la granulosa, de se différencier, empêche l'atrésie folliculaire et favorise l’apparition de kystes sanguins après ovulation.

Our lab has contributed to the identification of the R-spondin1 (Rspo1) gene. Disruption of this gene leads to different defects such as palmoplantar hyperkeratosis, predisposition to squamous cell carcinoma and sex reversals. Establishment of the mouse model led to the result that RSPO1, which activates the WNT/ßcatenin signaling pathway, is necessary for ovarian differentiation. Rspo1 and Sox9 are known to be key factors in female and male sex determination, respectively. I first participated to the study of their role in sex reversals, in order to determine the role of each pathway in these processes. The study of 2 different mouse models (conditional knockout of Sox9 and R-spondin1/Sox9 double knockout), led us to the conclusion that sex determination is a balance between the male pathway activated by Sox genes and the female pathway activated by R-spondin1. I then evaluated the role of R-spondin1 in the adult ovary using a mouse model over expressing R-spondin1 in the ovary, as it is usually downregulated in the adult. I was able to observe that maintenance of R-spondin1 expression in the adult keeps the granulosa cell lineage from differentiating properly, prevents atresia in the ovary and may contribute to the formation of blood filled cysts following ovulation. In conclusion, our study shows that sex determination and adult ovary homeostasis need to be highly regulated. Deregulation of key genes such as R-spondin1 can lead to different pathologies, such as sex reversal and…

Advisors/Committee Members: Chaboissier, Marie-Christine (thesis director).

Subjects/Keywords: Ovaire; R-spondin1; Inversions de sexe; Pathologies; Souris; Ovary; R-spondin1; Sex reversals; Pathologies; Mouse

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

APA (6^th Edition):

Pauper, E. (2014). Étude des gènes R-spondin1 et Sox9, impliqués dans les inversions de sexe et l’homéostasie de l’ovaire adulte chez la souris : Study of the genes R-spondin1 and Sox9, implicated in sex reversals and in the adult ovary homeostasis in mice. (Doctoral Dissertation). Nice. Retrieved from http://www.theses.fr/2014NICE4054

Chicago Manual of Style (16^th Edition):

Pauper, Eva. “Étude des gènes R-spondin1 et Sox9, impliqués dans les inversions de sexe et l’homéostasie de l’ovaire adulte chez la souris : Study of the genes R-spondin1 and Sox9, implicated in sex reversals and in the adult ovary homeostasis in mice.” 2014. Doctoral Dissertation, Nice. Accessed January 22, 2021. http://www.theses.fr/2014NICE4054.

MLA Handbook (7^th Edition):

Pauper, Eva. “Étude des gènes R-spondin1 et Sox9, impliqués dans les inversions de sexe et l’homéostasie de l’ovaire adulte chez la souris : Study of the genes R-spondin1 and Sox9, implicated in sex reversals and in the adult ovary homeostasis in mice.” 2014. Web. 22 Jan 2021.

Vancouver:

Pauper E. Étude des gènes R-spondin1 et Sox9, impliqués dans les inversions de sexe et l’homéostasie de l’ovaire adulte chez la souris : Study of the genes R-spondin1 and Sox9, implicated in sex reversals and in the adult ovary homeostasis in mice. [Internet] [Doctoral dissertation]. Nice; 2014. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2014NICE4054.

Council of Science Editors:

Pauper E. Étude des gènes R-spondin1 et Sox9, impliqués dans les inversions de sexe et l’homéostasie de l’ovaire adulte chez la souris : Study of the genes R-spondin1 and Sox9, implicated in sex reversals and in the adult ovary homeostasis in mice. [Doctoral Dissertation]. Nice; 2014. Available from: http://www.theses.fr/2014NICE4054

28. Bilou, Miguel Filipe Neves. A identidade da marca da Universidade de Évora.

Degree: 2014, Universidade de Évora

URL: https://www.rcaap.pt/detail.jsp?id=oai:dspace.uevora.pt:10174/11153

► As Marcas podem ser determinantes na procura de uma simbologia adequada para associar um determinado produto ou entidade aos objetivos pretendidos. São da sua responsabilidade… (more)

▼ As Marcas podem ser determinantes na procura de uma simbologia adequada para associar um determinado produto ou entidade aos objetivos pretendidos. São da sua responsabilidade despertar emoções e associações nos consumidores, assim como, estabelecer a missão de determinada entidade. O modelo Ideias(R)evolution é considerado uma ferramenta de gestão, desenvolvido pela UNIDCOM/IADE com a coordenação do professor Américo Mateus. Através de Workshop,são desenvolvidas ideias inovadoras que permitem criar um percurso positivo para o sucesso de uma Marca. Este trabalho de projeto reflete a aplicação da terceira vertente do modelo Ideias(R)evolution. Através do estímulo criativo proporcionado a um grupo de indivíduos, permitiu a identificação dos principais elementos, que servirão como base para a identificação marca Universidade de Évora. Com este trabalho, foi possível a identificação do ADN da marca, a sua personalidade e caraterísticas, que em conjunto constituem a identidade da marca Universidade de Évora; The Brand Identity of the University of Évora## Abstract: Brands may be decisive in finding a suitable symbology to associate a particular product or entity’s intended objectives. It´s responsibility it´s to awake emotions and associations on consumers as well as establishing the mission of a particular entity. The model ideas(R)evolution is considered a management tool, developed by UNIDCOM / IADE with the coordination of Professor Américo Mateus. Through workshops, innovative ideas are developed that build a positive route for the success of a brand. This work project reflects the application of the third strand of the model ideas(R)evolution. Through creative stimulation provided to a group of individuals, has allowed the identification of the key elements that will serve as the basis for the identification of the brand of the University of Évora. Through the developed work, it was possible to identify the DNA of the brand, its personality and characteristics, which altogether represent the identity of University of Évora’s brand. Advisors/Committee Members: Silvério, Marta, Mateus, Américo.

Subjects/Keywords: Marca; Universidade de Évora; Ideias (R)evolution; Brand; University of Évora; Ideias (R)evolution

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APA (6^th Edition):

Bilou, M. F. N. (2014). A identidade da marca da Universidade de Évora. (Thesis). Universidade de Évora. Retrieved from https://www.rcaap.pt/detail.jsp?id=oai:dspace.uevora.pt:10174/11153

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):

Bilou, Miguel Filipe Neves. “A identidade da marca da Universidade de Évora.” 2014. Thesis, Universidade de Évora. Accessed January 22, 2021. https://www.rcaap.pt/detail.jsp?id=oai:dspace.uevora.pt:10174/11153.

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

MLA Handbook (7^th Edition):

Bilou, Miguel Filipe Neves. “A identidade da marca da Universidade de Évora.” 2014. Web. 22 Jan 2021.

Vancouver:

Bilou MFN. A identidade da marca da Universidade de Évora. [Internet] [Thesis]. Universidade de Évora; 2014. [cited 2021 Jan 22]. Available from: https://www.rcaap.pt/detail.jsp?id=oai:dspace.uevora.pt:10174/11153.

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

Council of Science Editors:

Bilou MFN. A identidade da marca da Universidade de Évora. [Thesis]. Universidade de Évora; 2014. Available from: https://www.rcaap.pt/detail.jsp?id=oai:dspace.uevora.pt:10174/11153

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

Universidad de Extremadura

29. García López, Virginio. Estudio sobre la regionalización del sistema Cb₅R/Cb₅ en el cerebro adulto de rata y alteraciones en procesos neurodegenerativos .

Degree: 2016, Universidad de Extremadura

URL: http://hdl.handle.net/10662/4025

► Describimos un estudio de la distribución del complejo enzimático redox citocromo b₅ reductasa (Cb₅R) / citocromo b₅ (Cb₅). Este sistema estaría implicado en el reciclaje… (more)

Subjects/Keywords: Sistema Cb₅R/Cb₅; Encéfalo de rata; Antioxidantes; Cb₅R/Cb₅ system; Rat brain; Antioxidants

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

APA (6^th Edition):

García López, V. (2016). Estudio sobre la regionalización del sistema Cb₅R/Cb₅ en el cerebro adulto de rata y alteraciones en procesos neurodegenerativos . (Thesis). Universidad de Extremadura. Retrieved from http://hdl.handle.net/10662/4025

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):

García López, Virginio. “Estudio sobre la regionalización del sistema Cb₅R/Cb₅ en el cerebro adulto de rata y alteraciones en procesos neurodegenerativos .” 2016. Thesis, Universidad de Extremadura. Accessed January 22, 2021. http://hdl.handle.net/10662/4025.

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

MLA Handbook (7^th Edition):

García López, Virginio. “Estudio sobre la regionalización del sistema Cb₅R/Cb₅ en el cerebro adulto de rata y alteraciones en procesos neurodegenerativos .” 2016. Web. 22 Jan 2021.

Vancouver:

García López V. Estudio sobre la regionalización del sistema Cb₅R/Cb₅ en el cerebro adulto de rata y alteraciones en procesos neurodegenerativos . [Internet] [Thesis]. Universidad de Extremadura; 2016. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/10662/4025.

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

Council of Science Editors:

García López V. Estudio sobre la regionalización del sistema Cb₅R/Cb₅ en el cerebro adulto de rata y alteraciones en procesos neurodegenerativos . [Thesis]. Universidad de Extremadura; 2016. Available from: http://hdl.handle.net/10662/4025

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

30. Mazoyer, Adrien. Modèles de mutation : étude probabiliste et estimation paramétrique : Mutation models : probabilistic study and parameter estimation.

Degree: Docteur es, Mathématiques Appliquées, 2017, Université Grenoble Alpes (ComUE)

URL: http://www.theses.fr/2017GREAM032

► Les modèles de mutations décrivent le processus d’apparitions rares et aléatoires de mutations au cours de lacroissance d’une population de cellules. Les échantillons obtenus sont… (more)

Subjects/Keywords: Modèles de mutation; Loi de Luria-Delbrück; Analyse de fluctuation; Processus de branchement; Processus inhomogène; Mutation models; Luria-Delbrück distribution; Fluctuation analysis; Branching processes; Inhomogeneous processes; 510

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

APA (6^th Edition):

Mazoyer, A. (2017). Modèles de mutation : étude probabiliste et estimation paramétrique : Mutation models : probabilistic study and parameter estimation. (Doctoral Dissertation). Université Grenoble Alpes (ComUE). Retrieved from http://www.theses.fr/2017GREAM032

Chicago Manual of Style (16^th Edition):

Mazoyer, Adrien. “Modèles de mutation : étude probabiliste et estimation paramétrique : Mutation models : probabilistic study and parameter estimation.” 2017. Doctoral Dissertation, Université Grenoble Alpes (ComUE). Accessed January 22, 2021. http://www.theses.fr/2017GREAM032.

MLA Handbook (7^th Edition):

Mazoyer, Adrien. “Modèles de mutation : étude probabiliste et estimation paramétrique : Mutation models : probabilistic study and parameter estimation.” 2017. Web. 22 Jan 2021.

Vancouver:

Mazoyer A. Modèles de mutation : étude probabiliste et estimation paramétrique : Mutation models : probabilistic study and parameter estimation. [Internet] [Doctoral dissertation]. Université Grenoble Alpes (ComUE); 2017. [cited 2021 Jan 22]. Available from: http://www.theses.fr/2017GREAM032.

Council of Science Editors:

Mazoyer A. Modèles de mutation : étude probabiliste et estimation paramétrique : Mutation models : probabilistic study and parameter estimation. [Doctoral Dissertation]. Université Grenoble Alpes (ComUE); 2017. Available from: http://www.theses.fr/2017GREAM032

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