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Dissertations / Theses on the topic 'Mutation spectra'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Zhivagui, Maria. "Genome-wide modeling of mutation spectra of human cancer-risk agents using experimental systems." Thesis, Lyon, 2017. http://www.theses.fr/2017LYSE1278/document.

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Les génomes du cancer présentent une mosaïque de types de mutations. Trente signatures mutationnelles ont été identifiées à partir d'un grand nombre de tumeurs humaines primaires. Déchiffrer l'origine de ces signatures mutationnelles pourrait aider à identifier les causes du cancer humain. Environ 40% des signatures décrites sont d'origine inconnue, soulignant la nécessité de modèles expérimentaux contrôlés pour étudier l'origine de ces signatures. Au cours de mon travail de doctorat, j'ai caractérisé et utilisé des modèles in vitro et in vivo d'exposition aux cancérogènes, caractériser les si

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2

Wolfreys, Alison Mandy. "Molecular mutation spectra of 6-thioguanine resistant human T-lymphocyte and UV-irradiated lymphoblastoid mutants." Thesis, University of Sussex, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266549.

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3

Gay, L. J. "APC mutation spectra and microsatellite instability in colorectal cancer and their relationship with dietary and other lifestyle factors." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.599339.

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Mutation analysis of the mutation cluster region (MCR) of <i>APC</i> (codons 1276-1556) and MSI analysis was performed on 185 tumour samples from participants of the European Prospective Investigation into Cancer and Nutrition (EPIC) Norfolk Study, with the aim of relating the molecular changes to dietary and lifestyle information collected at the start of the study. For the <i>APC</i> analysis, genomic DNA was extracted from formalin-fixed archival tissue, amplified and sequenced. Repeat analysis identified mutations that were consistently found (confirmed), from those that were not (unconfir

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4

Dunn, James W. "Stretching the Flexible Myosin II Subfragment Using the Novel Gravitational Force Spectroscope, and the Uncoiling of S2." Thesis, University of North Texas, 2010. https://digital.library.unt.edu/ark:/67531/metadc28414/.

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Familial Hypertrophic cardiomyopathy (HCM) causes ventricle walls to thicken and often leads to sudden death especially in adults. Mutations in the subfragment 2 (S2) of β-cardiac myosin are implicated in the genetic disorder. This S2 region is a coiled-coil rod region resulting from the dimeric form of myosin II. It has been proposed that an elastic quality allows normal S2 to absorb force during the powerstroke according to the sliding filament model. To test the flexibility of single molecules of S2 against levels of physiological force, the Gravitational Force Spectrometer (GFS) is be

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5

Keith, Nathan. "The Influence of Chemical Pollution on the Rate, Spectra, and Distribution of Genome-Wide DNA Mutation with Considerations for Health and Ecosystem Outcomes." Thesis, Indiana University, 2019. http://pqdtopen.proquest.com/#viewpdf?dispub=13808392.

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<p> Mutations are the ultimate source of genetic variation. Understanding the rate and environmental influence on mutation rate is therefore critical for understanding the origin of human disease and all evolutionary change. Environments, including chemical environments, are rapidly changing around the globe. Over the past seven decades, more than 140,000 novel chemicals have introduced into the market. However, less than 2% of these chemicals have been thoroughly characterized with toxicological assays. </p><p> Because the majority of germline mutations have a neutral or negative impact on

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6

Bessö, Anna. "Environmental factors and p53 mutation spectrum in lung cancer /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-675-1/.

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7

Cariello, Neal Foster. "Mutational spectra of MNNG and ICR-191 in human cells." Thesis, Massachusetts Institute of Technology, 1988. http://hdl.handle.net/1721.1/16499.

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8

Carton-Buonafine, Coralie. "Architecture génétique des troubles du spectre autistique dans les îles Féroé." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC117/document.

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Les Troubles du Spectre Autistique (TSA) forment un groupe hétérogène de troubles neurodéveloppementaux caractérisés par des déficits de l’interaction sociale et de la communication ainsi que la présence de comportements répétitifs et d’intérêts restreints. Les TSA affectent environ un individu sur 68. Ils se manifestent généralement durant les trois premières années de vie mais, pour certains cas, les symptômes sont reconnus plus tard, quand les exigences sociales augmentent. Les études de jumeaux et la récurrence des troubles dans certaines familles démontrent l’importance des facteurs génét

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9

Li-Sucholeiki, Xiaocheng 1968. "A technology for detecting unselected mutational spectra in human genomic DNA." Thesis, Massachusetts Institute of Technology, 1999. http://hdl.handle.net/1721.1/84743.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Division of Bioengineering and Environmental Health, 1999.<br>Includes bibliographical references (leaves 186-205).<br>by Xiaocheng Li-Suckoleiki.<br>Ph.D.

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10

Burch, Christina L. "Mutational spectra and the adaptive landscape in the RNA virus ø6 /." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2000. http://wwwlib.umi.com/cr/ucsd/fullcit?p9981955.

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11

Hackman, Peter. "HPRT mutational spectra and microsatellite DNA instability in HNPCC and lung cancer patients /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4219-6/.

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12

Coller, Hilary Ann 1967. "Mitochondrial mutational spectra in human bronchial ephithelial cells of smokers and nonsmokers." Thesis, Massachusetts Institute of Technology, 1997. http://hdl.handle.net/1721.1/49629.

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13

Godfrey, Tony Edward. "Characterisation and mutation spectrum analysis of a novel chinese hamster cell line." Thesis, Brunel University, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.385070.

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14

Dong, Zhaoqi. "SYNAPTIC, CIRCUITRY AND BEHAVIORAL DEFICITS INDUCED BY AUTISM SPECTRUM DISORDER ASSOCIATED CULLIN3 MUTATION." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case160095481536906.

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15

Dempsey, Nunez Laura. "Spectrum of mutations in MMAA identified by high resolution melting analysis." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110535.

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The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria. We have been concerned that somatic cell methods of diagnosis may miss patients with mild cellular phenotypes. A high resolution melting (HRM) analysis assay was developed to rapidly scan the coding exons and flanking intronic regions of the MMAA genes for variants. DNA from 96 unaffected reference individuals, 72 patients with complementation confirmed cblA, and 181 patients with elevated isolate

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16

Illson, Margaret. "Spectrum of mutations in MMAB identified by high resolution melting analysis." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=110564.

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Pathogenic variants in the MMAB gene (OMIM 607958) are responsible for the cblB class of cobalamin-responsive methylmalonic aciduria (MMA) (OMIM 251110). MMAB encodes cobalamin adenosyltransferase, a mitochondrial enzyme responsible for the formation of adenosylcobalamin (AdoCbl). AdoCbl subsequently functions as a cofactor for methylmalonyl-CoA mutase (MCM) during the isomerization of L-methylmalonyl-CoA to succinyl-CoA. Somatic cells studies have been used to evaluate patient samples for cobalamin related disorders. Due to high basal levels of propionate incorporation, some patients wi

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17

Craig, Alexander [Verfasser], and Gerd [Akademischer Betreuer] Scherer. "Molecular genetic analysis of FAM58A and expansion of the mutation spectrum in STAR syndrome." Freiburg : Universität, 2015. http://d-nb.info/1122743424/34.

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18

Roget, Tristan. "Selection-mutation dynamics with age structure : long-time behaviour and application to the evolution of life-history traits." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLX111/document.

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Cette thèse est divisée en deux parties reliées par un même fil conducteur. Elle porte sur l'étude théorique et l'application de modèles mathématiques décrivant des dynamiques de population où les individus se reproduisent et meurent à des taux dépendant de leur âge et d'un trait phénotypique. Le trait est fixé durant la vie de l'individu. Il est modifié au fil des générations par des mutations apparaissant lors de la reproduction. On modélise la sélection naturelle en introduisant un taux de mortalité densité-dépendant décrivant la compétition pour les ressources.Dans une première partie, nou

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19

Ferré, Marc. "Analyse bio-informatique du protéome mitochondrial et du spectre des mutations de la protéine Opa1." Phd thesis, Université d'Angers, 2009. http://tel.archives-ouvertes.fr/tel-00457327.

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Les mitochondries sont impliquées dans de nombreux processus cellulaires essentiels tels que le catabolisme des nutriments, la phosphorylation oxydative, l'apoptose et la régulation des flux calciques. Elles ont une structure dynamique, qui s'adapte en permanence aux besoins cellulaires, et sont sous le contrôle de réseaux de régulation coordonnant leur masse, leur structure et leurs fonctions. Le protéome mitochondrial est ainsi composé d'une très grande diversité de protéines qui dérive en partie de l'ancêtre procaryote des mitochondries et résulte majoritairement d'une information codée par

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20

Hamilton, William Lyle. "Rate, spectrum and genome-wide distribution of spontaneous mutation in the malaria parasite Plasmodium falciparum." Thesis, University of Cambridge, 2015. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709391.

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21

Ekvall, Sara. "Genetic and Clinical Investigation of Noonan Spectrum Disorders." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-183325.

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Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. In the first family, the index patient presented with severe Noonan syndrome (NS) and multiple café-au-lait (CAL) spots, while four additional family members displayed multiple CAL spots only. Genetic analysis of four RAS-MAPK genes revealed a de novo PTPN11 mutation and a paternally inherited NF1 mutation, which could explain the atypi

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22

Hasselbacher, Katrin. "Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2 associated disorders /." Erlangen, 2008. http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000252715.

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23

Ivanov, Dobril Kirilov. "Comparative analysis of germline and somatic micro-lesion mutational spectra in 17 human tumour suppressor genes." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/55875/.

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The known somatic (N>4000) and germline (N>4000) cancer-associated mutational spectra (viz. missense and nonsense mutations micro-deletions, micro-insertions and micro- indels <20bp) of 17 human tumour suppressor genes (viz. APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, NF1, NF2, PTCH, PTEN, RBI, STK11, TP53, TSC1, TSC2, VHL and WT1) were compared in order to identify similarities and differences. Analysed parameters included the recurrence status of mutations, CpG mutability Grantham difference evolutionary conservation of affected codons role of nonsense-mediated mRNA decay and co-location with r

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24

Chen, Jia. "Effect of dose and dose rate on benzo[a]pyrene induced mutational spectra in human cells." Thesis, Massachusetts Institute of Technology, 1994. http://hdl.handle.net/1721.1/36941.

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25

Huguet, Guillaume. "Identification de facteurs génétiques impliqués dans les troubles du spectre autistique et de la dyslexie." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T078/document.

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Les troubles du spectre autistique (TSA) touchent approximativement 1% de la population générale. Ces troubles se caractérisent par un déficit de la communication sociale, ainsi que des comportements stéréotypés et des intérêts restreints. Plusieurs gènes impliqués dans le déterminisme des TSA ont été identifiés, comme par exemple les gènes NLGN3-4X, NRXN1-3 et SHANK1-3. Au cours des années précédentes, les TSA ont été considérés comme un ensemble complexe de troubles monogéniques. Cependant, les études récentes du génome complet suggèrent la présence de gènes modificateurs (« multiple hits mo

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26

GAZZOTTI, MARTA. "FAMILIAL DYSLIPIDAEMIAS IN ITALY: SPECTRUM OF MUTATIONS, CLINICAL MANIFESTATIONS AND INFLUENCE OF ENVIRONMENTAL FACTORS." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/886428.

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Le dislipidemie genetiche rappresentano una delle principali cause di morbilità e mortalità cardiovascolare, tuttavia rimangono ancora sotto-stimate, sotto-diagnosticate e sotto-trattate nella popolazione generale. Negli ultimi anni, i registri di patologia si sono rivelati un utile strumento sia a livello nazionale che internazionale per affrontare queste problematiche. Il registro italiano delle dislipidemie è stato avviato attraverso lo studio LIPIGEN, il focus di questa tesi di dottorato, e ha iniziato la raccolta dei dati della dislipidemia genetica più frequente, rappresentata dall’iperc

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Rudaitis, Vilius. "BRCA1/2 mutation spectrum and its prognostic significance for progression-free and overall survival in advanced ovarian cancer." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2014~D_20140925_135101-34767.

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In general population 1 of 72 women develop ovarian cancer and to 1 of 95 women this disease is lethal. A great number of clinical trials have shown that the course of the disease is not dependent only on the classical prognostic indicators such as histological tumor type, tumor differentiation, stage of the disease or treatment modalities. More than two decades ago the first publications on heredity factors indicated similarity among the patients diagnosed ovarian malignancies and their first degree relatives. The first genetic autosomal dominant inheritance was determined in the high-risk ca

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28

Paget, Vincent. "Spectres mutationnels expérimentaux du gène suppresseur de tumeurs TP53 induits par l'acétaldéhyde et l'aflatoxine B1 : utilisation d'un test fonctionnel chez la levure, le FASAY (fuctional analysis of separated alleles in yeast)." Caen, 2008. http://www.theses.fr/2008CAEN4001.

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L’objectif principal de ce travail était d’étudier le pouvoir mutagène de l’acétaldéhyde sur le gène suppresseur de tumeur TP53, dans le but de préciser le mécanisme d’action cancérogène de l’alcool dont l’acétaldéhyde est le premier métabolite. Dans ce cadre, il a été nécessaire de mettre en place un test fonctionnel chez la levure, le FASAY, test permettant de réaliser des spectres mutationnels in vitro. Dans un deuxième temps, les résultats obtenus ont été comparés aux spectres de tumeurs humaines de l’œsophage dans lesquelles TP53 est retrouvé muté dans près de 80 % des cas. La validation

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29

Craescu, Constantin. "Etudes par **(1)h rmn a haute resolution de la structure et de la dynamique des hemoglobines humaines." Paris 6, 1987. http://www.theses.fr/1987PA066323.

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30

Rojas, Rojas Teresa Milagros. "Particularités du carcinome hépatocellulaire au Pérou : étude clinique, génétique et de médecine intégrative." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0549.

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Le cancer du foie est la deuxième cause de mortalité due au cancer dans le monde, avec près de 83% des cas et 84% des décès ayant lieu dans les pays en voie de développement. Le type histologique de cancer du foie le plus fréquemment répandu est le carcinome hépatocellulaire (HCC). Selon la littérature disponible, le HCC affecte électivement des sujets masculins de plus de 50 ans ayant développé préalablement une cirrhose hépatique. Nos objectifs étaient donc i) de confirmer au niveau moléculaire la singularité du HCC chez les patients péruviens, ii) d'évaluer les stratégies d'intervention chi

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31

Montani, C. "SYNAPSE AND DENDRITE DEFICITS INDUCED BY MUTATIONS IN THE X-LINKED INTELLECTUAL DISABILITY GENE IL1RAPL1." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/244430.

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Doctorial Thesis of Caterina Montani: Synapse and dendrite deficits induced by mutations in the X-linked intellectual disability gene Il1rapl1 ABSTRACT Mutations and deletions of Interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene, localized on X chromosome, are strongly associated to intellectual disability (ID) and autism spectrum disorder (ASD) (Carrie et al., 1999; Piton et al., 2008). IL1RAPL1 protein is localized at the postsynaptic compartment of excitatory synapses (Pavlowsky et al.) and plays an important role in synapse formation and stabilization in developing brain,

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32

Praschberger, Roman. "Expanding the mutational spectrum and investigating the pathophysiology of GOSR2 mediated progressive myoclonus epilepsy." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10041248/.

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In this PhD thesis I summarize my research into the genetics and pathophysiology of progressive myoclonus epilepsy (PME) associated with mutations in GOSR2. This disorder is characterized by early disease onset with ataxia around 3 years of age, followed by development of cortical myoclonus, generalized epilepsy and a rapid deterioration of motor function. Upon beginning my PhD, only one homozygous GOSR2 mutation – c.430G > T (p.G144W) – had been shown to cause PME. Furthermore, because GOSR2 encodes a Golgi SNARE protein (termed Membrin) that mediates ER-to-Golgi trafficking in every cell of

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33

Krahn, Martin. "Analyses mutationnelles dans les calpainopathies et dysferlinopathies primaires : extension des spectres génotypiques et phénotypiques." Aix-Marseille 2, 2007. http://www.theses.fr/2007AIX20702.

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Nous avons analysé le spectre mutationnel du gène CAPN3 dans une cohorte française de 42 patients. L’analyse transcriptionelle a caractérisée l’effet délétère de plusieurs variants introniques, et déterminée les points de cassure d'une grande délétion génomique. Nous avons identifié des mutations constitutionnelles délétéres du gène CAPN3 chez 11 patients atteints de mysoite à éosinophiles idiopathiques, et ainsi la première cause génétique de cette maladie rare. Nous rapportons l'analyse moléculaire du gène DYSF dans une cohorte de 135 patients, ce qui constitue la plus grande cohorte d'analy

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Arnoldi, Michele. "CHD mutations in autism spectrum disorders and epilepsy: alterations of epigenetic landscape and new approaches for therapeutic development." Doctoral thesis, Università degli studi di Trento, 2022. http://hdl.handle.net/11572/338434.

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Recurrent disruptive mutations in chromodomain helicase DNA-binding protein 2 and 8 (CHD2 and CHD8) are emerging as prominent risk factors for Epilepsy and ASD, respectively. While both CHD2 and CHD8 play important roles in chromatin regulation and transcription, not fully dissected are the molecular consequences of the inactivating mutations described in patients. Here, we first investigated how chromatin reacts to CHD8 suppression by analysing a panel of histone modifications in human induced pluripotent stem cell-derived neural progenitors (hiNPC). CHD8 suppression led to significant reduct

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Dakh, Farshid. "Mutation frequency of non-ESBL phenotype SENTRY (Asia-Pacific) isolates of Klebsiella pneumoniae conversion to an ESBL positive phenotype." Thesis, Queensland University of Technology, 2008. https://eprints.qut.edu.au/28413/1/Farshid_Dakh%27s_Thesis.pdf.

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Extended spectrum β-lactamases or ESBLs, which are derived from non-ESBL precursors by point mutation of β-lactamase genes (bla), are spreading rapidly all over the world and have caused considerable problems in the treatment of infections caused by bacteria which harbour them. The mechanism of this resistance is not fully understood and a better understanding of these mechanisms might significantly impact on choosing proper diagnostic and treatment strategies. Previous work on SHV β-lactamase gene, blaSHV, has shown that only Klebsiella pneumoniae strains which contain plasmid-borne blaSHV ar

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Dakh, Farshid. "Mutation frequency of non-ESBL phenotype SENTRY (Asia-Pacific) isolates of Klebsiella pneumoniae conversion to an ESBL positive phenotype." Queensland University of Technology, 2008. http://eprints.qut.edu.au/28413/.

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Extended spectrum β-lactamases or ESBLs, which are derived from non-ESBL precursors by point mutation of β-lactamase genes (bla), are spreading rapidly all over the world and have caused considerable problems in the treatment of infections caused by bacteria which harbour them. The mechanism of this resistance is not fully understood and a better understanding of these mechanisms might significantly impact on choosing proper diagnostic and treatment strategies. Previous work on SHV β-lactamase gene, blaSHV, has shown that only Klebsiella pneumoniae strains which contain plasmid-borne blaSHV ar

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Gouder, Laura. "Etude de l'effet de mutations du gène SHANK3 dans les TSA à partir de neurones corticaux humains dérivés de cellules souches pluripotentes induites." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB089/document.

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Les Troubles du Spectre Autistique (TSA) affectent un individu sur 100 en France et sont caractérisés par des déficits de la communication et des interactions sociales ainsi que par la présence d’intérêts restreints et de comportements répétitifs. Le laboratoire a démontré l’implication de protéines synaptiques dans le développement des TSA et en particulier celle des protéines SHANK. Ces protéines sont des protéines d’échafaudage présentes au niveau de la densité post-synaptique (PSD) des neurones glutamatergiques et interagissant avec différents partenaires. Dans le cadre de mon projet de th

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Fiore, Mathieu. "Extension du spectre mutationnel des gènes ITGA2B-ITGB3 et corrélation génotypephénotype dans la thrombasthénie de Glanzmann." Thesis, Bordeaux, 2014. http://www.theses.fr/2014BORD0273/document.

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La thrombasthénie de Glanzmann (TG) est une maladie autosomique récessive liée à undéficit quantitatif et/ou qualitatif de l’intégrine αIIbβ3, principale glycoprotéine présente à la surfacedes plaquettes. Ce complexe sert de récepteur au fibrinogène plasmatique, permettant ainsi auxplaquettes de s’agréger entre-elles. Notre étude visait à caractériser les anomalies génétiquesresponsables de TG chez 76 familles d’origine différente. Les signes hémorragiques présentés parles patients étaient principalement des épistaxis, des pétéchies, des saignements gastro-intestinauxou des ménorragies. Les mu

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Dillahunt, Kyle D. "Frequency of PTEN Gene Mutations in Children with Autism Spectrum Disorder, Intellectual Disabilities, and Global Developmental Delays in the Presence of Macrocephaly." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1491991439195058.

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Elisée, Eddy. "Towards in silico prediction of mutations related to antibiotic resistance." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS350.

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La résistance aux antibiotiques est une menace sérieuse pour la santé publique. En effet, si on ne change pas rapidement notre consommation excessive d'antibiotiques, la situation actuelle va se dégrader jusqu'à basculer dans une ère dite "post-antibiotique", dans laquelle plus aucun antibiotique ne sera efficace contre les infections microbiennes. Bien que ce phénomène de résistance apparaît naturellement, l'utilisation abusive d'antibiotiques accélère le processus. De plus, la présence de pathogènes multi-résistants neutralise l'effet des traitements existants et dans le cas de chirurgies co

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Glover, Curtis Lee X. 1971. "The spontaneous mutational spectrum of exon 2 and the high melting region of exon 3 of the human HPRT gene." Thesis, Massachusetts Institute of Technology, 1999. http://hdl.handle.net/1721.1/84747.

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Thesis (S.M.)--Massachusetts Institute of Technology, Division of Bioengineering and Environmental Health, 1999.<br>Includes bibliographical references (leaves 63-69).<br>by Curtis Lee X. Glover.<br>S.M.

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Dhifallah, Sandra. "Étude fonctionnelle de mutations des canaux sodiques potentiel-dépendants Nav1.1 et Nav1.2 : corrélation phénotype/génotype et mise en évidence d’un mécanisme spécifique pour les troubles du spectre de l’autisme." Electronic Thesis or Diss., Université Côte d'Azur, 2020. http://www.theses.fr/2020COAZ6004.

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Les gènes codant pour les canaux sodiques potentiel-dépendants (Nav) présents dans le système nerveux central sont la cible de mutations conduisant à divers phénotypes. L’objectif de mon travail de thèse est de comprendre pourquoi des mutations d’un même gène peuvent conduire à des pathologies distinctes afin d’envisager le développement de nouvelles approches thérapeutiques. Le gène SCN1A codant pour le canal Nav1.1, exprimé principalement dans les interneurones GABAergiques (IN GABA), est la cible de mutations responsables de syndromes épileptiques et de la migraine hémiplégique familiale (M

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Konyukh, Marina. "Copy number variations in autism spectrum disorders : identification and characterization of new candidate genes ( SEZ6L2 ans CNTN3-6)." Paris 7, 2010. http://www.theses.fr/2010PA077235.

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Les troubles du spectre autistique (TSA) sont caractérisés par un déficit de la communication sociale et des comportements stéréotypés. Des études d'agrégation familiales et sur les jumeaux ont indiqué que les TSA ont une composante génétique forte. Récemment, l'étude du génome à grande échelle et à haute résolution a révélé des variations du nombre de copies (CNV). Un des CNV les plus fréquemment observés chez les patients atteints de TSA est la délétion/duplication localisée dans la région chromosomique 16pl 1. 2. Parmi les gènes situés dans ce CNV, des analyses montre que SEZ6L2, pourrait ê

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Harris, Tegan Maree. "B-lactamase-mediated resistance to antimicrobials : the relationship between genotype and phenotype." Thesis, Queensland University of Technology, 2014. https://eprints.qut.edu.au/77835/1/Tegan_Harris_Thesis.pdf.

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This thesis examined the ability to predict the emergence of bacteria resistant to antibiotics using genetic markers in the bacteria. Bacteria containing the genetic markers were able to become resistant to antibiotics, whereas bacteria that did not have the genetic markers remained susceptible. Existing techniques can identify the presence of resistance by looking at the characteristics of the bacteria during growth. However, having the ability to predict antibiotic resistance before it emerges could improve the preservation of currently available antibiotics and minimise treatment failure.

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Rodgers, Jessica. "Functional characterisation of key residues in the photopigment melanopsin." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:d1184150-9b61-4cc9-94ad-2cc13a3d21ce.

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Melanopsin (Opn4) is the opsin photopigment of intrinsically photosensitive retinal ganglion cells (ipRGCs). It has a conserved opsin structure and activation mechanism, yet demonstrates unusual functional properties that suggest it will possess unique structure-function relationships. The aim of this thesis was to characterise key OPN4 residues by examining the impact of non-synonymous mutations on melanopsin function. A genotype-driven screen of a chemically-mutagenized mouse archive led to the identification of a novel Opn4 mutant, S310A, located at a known opsin spectral tuning site. Actio

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Wang, Chiung-Pei, and 王瓊珮. "Mutation Spectra Induced by Safrole in Hypoxanthine-guanine Phosphoribosyltransferase Locus of Chinese Hamster Ovary K1 Cells." Thesis, 2000. http://ndltd.ncl.edu.tw/handle/93030672516238781842.

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碩士<br>國立陽明大學<br>藥理學研究所<br>88<br>Safrole, an essential oil that has been used in cosmetics and as a food flavoring agents, is classified as a rodent hepatocarcinogen. The carcinogenicity of safrole is mediated through 1'-hydroxysafrole formation, sulfonated to an unstable sulfuric acid ester, and consequently forming stable safrole-DNA adducts. DNA adduct is known to be an initial step of mutagenesis and carcinogenesis. In Taiwan, Piper betle inflorescence contains high concentration of safrole (15 mg/g fresh weight), and may contribute to human exposure (420 microM of safrole in saliva) whil

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Lee, Yi-Chung, and 李宜中. "Mutational spectrum of demyelinating Charcot-Marie-Tooth disease, genotype-phenotype correlation and functional study of MPZ mutations." Thesis, 2008. http://ndltd.ncl.edu.tw/handle/95481993822496701561.

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博士<br>國立陽明大學<br>臨床醫學研究所<br>96<br>Charcot-Marie-Tooth disease (CMT) is a group of inherited neuropathies that can be further categorized according to their causative genes. CMT1B is a demyelinating neuropathy caused by mutations in the myelin protein zero gene (MPZ) on chromosome 1q22-q23. The site and nature of MPZ mutations are closely related to the corresponding clinical phenotypes. Although more than 110 different mutations in MPZ have been reported worldwide, few studies have been conducted in the Chinese population. This research focused on MPZ to ascertain its molecular epidemiology and

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Breda, João Filipe Barbosa. "Autosomal recessive nanophthalmos : MFRP mutation and phenotypical spectrum." Master's thesis, 2011. http://hdl.handle.net/10316/31198.

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Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Medicina da Universidade de Coimbra<br>Nanophthalmos is a rare congenital disorder of the eye, usually bilateral and symmetrical, characterized by a small eye, associated with shortened axial length (21mm or less), high corneal curvature, narrow iridocorneal angle, high hyperopia (ranging from +8.00 to +25.00) and excessive thickening of both choroidal and scleral layers. Mutations in the membrane-type frizzled related protein (MFRP) gene have been identified as the cause of classic non-syndromic M

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Huang, Mu –. I., and 黃慕依. "Investigation of TSC gene mutation spectrum in tuberous sclerosis families in Taiwan." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/62680602751120000474.

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碩士<br>長庚大學<br>醫學生物技術研究所<br>93<br>Tuberous sclerosis complex（TSC）is an autosomal dominantly inherited disease. The estimated frequency of TSC in the population is about 1/6,000 ~ 1/10,000. TSC displays genetic heterogeneity, with the existence of two different causative genes on chromosomes 9q34.3 （TSC1） and 16p13.3（TSC2）. These two genes mutation behave as tumor suppressor genes loss function. At present, the genetic lesions were found in 16 patients among the 27 patients. Three possible pathogenic mutations were found in the TSC1 gene, including one missense, one nonsense and one frame shift

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Chie, Yeh Shie, and 葉旭琪. "Kinds and Spectra of Mutations Induced by Lead Acetate in hprt Locus of CHOK1 cells." Thesis, 1993. http://ndltd.ncl.edu.tw/handle/47325618378962481186.

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