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Tesis sobre el tema "Missense mutations"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 24 de julio de 2025

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1

Ibrahim, Daniel Murad. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://dx.doi.org/10.18452/17102.

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Mutationen von Transkriptionsfaktoren (TF) betreffen nicht nur die Funktion des TFs, sondern auch die Expression seiner Zielgene und liegen häufig angeborenen Entwicklungsdefekten zugrunde. Über 20 Mutationen in HOXD13, einem TF der die Entwicklung der Extremitäten kontrolliert, sind bisher als Ursache verschiedenartiger Extremitätenfehlbildungen entdeckt worden. Eine molekularbiologische Grundlage für die Vielgestaltigkeit der HOXD13-Mutationen ist jedoch unbekannt. Die bisherigen Methoden zur funktionellen Charakterisierung von TF-Mutationen ermöglichten eine lediglich eingeschränkte Inte

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2

Zerey, Marc. "Functional analysis of human MLH1 missense mutations using Saccharomyces cerevisiae." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=79210.

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Hereditary nonpolyposis colorectal carcinoma (HNPCC) is linked to inherited defects in human genes (hMLH1, hMSH2, hMSH6, hPMS1, and hPMS2) that are involved in the repair of mismatched bases that may occur during DNA replication. Germline missense mutations in human MLH1 (hMLH1) are frequently detected and their functional characterization is critical to the development of genetic testing for HNPCC. We used several functional assays to characterize two hMLH1 mutations: T117M and R182G. Saccharomyces cerevisiae were transformed with hMLH1 cDNA expression vectors containing either mutatio

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3

Maxwell, Megan Amanda, and n/a. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Griffith University. School of Biomolecular and Biomedical Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040219.100649.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab

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4

Maxwell, Megan Amanda. "PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis." Thesis, Griffith University, 2004. http://hdl.handle.net/10072/366184.

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The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids. Disruption of peroxisome metabolic functions leads to severe disease in humans. These diseases can be broadly grouped into two categories: those in which a single enzyme is defective, and those known as the peroxisome biogenesis disorders (PBDs), which result from a generalised failure to import peroxisomal matrix proteins (and consequently result in disruption of multiple metab

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5

岡田, 浩美, H. Okada, T. Yamazaki, et al. "In vitro characterization of missense mutations associated with quantitative protein Sdeficiency." Thesis, Schattauer, 2006. http://hdl.handle.net/2237/11695.

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名古屋大学博士学位論文学位の種類:博士（医療技術学）（課程）学位授与年月日:平成19年3月23日<br>"In vitro characterization of missense mutations associated with quantitative protein Sdeficiency" Schattauer, v.4, iss.9, pp.2003-2009を、博士論文として提出したもの。

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6

Drozdova, Tetyana. "Nephrin missense mutations altez cellular trafficking and induce endoplasmic retioulum stress." Thesis, McGill University, 2012. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=106541.

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Nephrin, a key component of the filtration slit diaphragm, undergoes post-translational modifications in the endoplasmic reticulum (ER). Mutations in nephrin lead to proteinuria. We examined the effects of missense mutations in nephrin on protein folding in the ER, cellular trafficking, and induction of the unfolded protein response (UPR). Wild type (WT) nephrin and the I171N, G270C, S366R, S724C and R743C mutant cDNAs were expressed in 293T cells or glomerular epithelial cells (GECs) by transient transfection. Association of nephrin with the ER chaperone, calnexin, was studied by co-immunopre

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7

Ibrahim, Daniel Murad [Verfasser], Stefan [Akademischer Betreuer] Mundlos, and Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann." Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://d-nb.info/1065301065/34.

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8

Ibrahim, Daniel [Verfasser], Stefan [Akademischer Betreuer] Mundlos, and Petra [Akademischer Betreuer] Seemann. "ChIP-seq reveals mutation-specific pathomechanisms of HOXD13 missense mutations / Daniel Murad Ibrahim. Gutachter: Stefan Mundlos ; Petra Seemann." Berlin : Humboldt Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2015. http://nbn-resolving.de/urn:nbn:de:kobv:11-100225655.

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9

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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10

Sabbagh, Yves. "Impact of disease-causing missense mutations on the structure and function of PHEX." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=38517.

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X-linked hypophosphatemia (XLH), the most prevalent form of inherited rickets in humans, is caused by mutations in the PHEX gene, which encodes a protein with high homology to the M13 family of type-II integral membrane zinc metallopeptidases. We created an online mutation database, PHEXdb (http://data.mch.mcgill.ca/phexdb), to catalogue PHEX mutations identified in XLH patients, and found that missense mutations account for 22% of the 157 mutations reported to date. We also undertook to examine the effects of eight missense mutations (C85R, D237G, Y317F, G579R, G579V, S711R, A720T, and F731Y)

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11

Madabusi, Narasimhan Kandaye. "Characterization of three SMN missense mutations using mouse models of Spinal Muscular Atrophy." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1339442849.

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12

Dias, Henriques Sara. "Towards pharmacological strategies for missense mutations in two genes linked to muscular dystrophies." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLE015.

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La pathogénicité de nombreuses maladies génétiques humaines peut être liée à la reconnaissance de la protéine mutante mal repliée par le système de contrôle de la qualité des cellules (CQ), conduisant à leur dégradation. Néanmoins, un certain nombre de ces protéines mutées ont conservé une activité biologique, suggérant que le sauvetage de la dégradation peut réduire la pathologie et ouvrir la porte à des stratégies thérapeutiques pour traiter ces maladies.Les dystrophies musculaires des ceintures (LGMD) sont des maladies musculaires caractérisés par une atrophie progressive de la ceinture pel

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13

Thornburg, Adrienne. "Resolving the molecular mechanisms of inherited deafness caused by missense mutations in cadherin 23." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1461284758.

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14

Essawy, Nada. "Characterization of emerin LEM-domain missense mutations present in patients with exclusive atrial cardiac defects." Electronic Thesis or Diss., Sorbonne université, 2018. http://www.theses.fr/2018SORUS299.

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La dystrophie musculaire d’Emery-Dreifuss (DMED) est l'une des dystrophies musculaires génétiques humaines les plus répandues. L'implication cardiaque dans la maladie est le symptôme qui met le plus la vie en danger et la principale cause de mortalité. La majorité des cas de son type liée à l’X sont dus à des mutations dans un gène codant pour une protéine de l'enveloppe nucléaire, l'émérine. Malgré les progrès considérables qui ont été réalisés en termes de caractérisation de la structure de l'émerine, ses différents partenaires de liaison, et ses fonctions dans le corps humain, le tableau es

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15

Pan, Yingzhou Edward [Verfasser], and Hans-Jürgen [Akademischer Betreuer] Kreienkamp. "Functional analysis of disease-associated CASK missense mutations / Yingzhou Edward Pan ; Betreuer: Hans-Jürgen Kreienkamp." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2020. http://d-nb.info/1210647087/34.

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16

Ozaki, Norio, Nakao Iwata, Kozo Kaibuchi, et al. "Resequencing and Association Analysis of the KALRN and EPHB1 Genes And Their Contribution to Schizophrenia Susceptibility." Thesis, Oxford University Press, 2012. http://hdl.handle.net/2237/14925.

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17

Torrieri, Érico. "Análise Estrutural de Mutações na Enzima GALNS associadas à Mucopolissacaridose IVA utilizando a Técnica de Modelagem Comparativa." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-28072015-113748/.

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As Mucopolissacaridoses (MPS) são um grupo de doenças de armazenamento lisossômico causadas por deficiência de enzimas que catalisam a degradação gradual das glicosaminoglicanas (GAGs). GAGs (anteriormente chamadas de mucopolissacarídeos) são produtos de degradação das proteoglicanas que existem na matriz extracelular e tem efeito proteolítico. A classificação das MPS é baseada na deficiência enzimática específica. A MPS IVA é causada por mutações no gene que codifica a enzima GALNS (Nacetilgalactosamina-6-sulfatase), a qual desempenha um papel crucial na degradação do sulfato de queratano e c

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18

Bidshahri, Arezoo (Roza). "Novel ultra-sensitive digital PCR assays for screening and detection of rare missense mutations in (proto)-oncogenes." Thesis, University of British Columbia, 2017. http://hdl.handle.net/2429/62151.

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Somatic mutations can lead to cancer, often by altering the activity of kinases within signaling pathways that control cell growth and proliferation. Targeted cancer therapeutics are designed and used to regulate these aberrant signaling pathways in cases where somatic mutations within kinase genes predict a positive patient response to those treatments. For example, the V600E mutation in BRAF, the gene coding for the BRAF serine threonine kinase, predicts the effectiveness of vemurafenib in treating metastatic melanoma, while the mutational status of codons G12/G13 in the KRAS gene predicts l

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19

Essawy, Nada [Verfasser]. "Characterization of emerin LEM-domain missense mutations present in patients with exclusive atrial cardiac defects / Nada Essawy." Berlin : Freie Universität Berlin, 2019. http://d-nb.info/1179277864/34.

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20

Jeromson, Sarah Joy. "Development of a yeast model to distinguish missense mutations from polymorphisms in the Wilson's disease gene ATP7B." Thesis, University of Huddersfield, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.288501.

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21

Sanjurjo, Soriano Carla. "Functional characterisation of FEVR-related LGR4 missense mutations : implications in Norrin-β-Catenin signalling pathway and angiogenesis". Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/17046/.

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22

Preeprem, Thanawadee. "Functional assessments of amino acid variation in human genomes." Diss., Georgia Institute of Technology, 2014. http://hdl.handle.net/1853/51869.

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The Human Genome Project, initiated in 1990, creates an enormous amount of excitement in human genetics—a field of study that seeks answers to the understanding of human evolution, diseases and development, gene therapy, and preventive medicine. The first completion of a human genome in 2003 and the breakthroughs of sequencing technologies in the past few years deliver the promised benefits of genome studies, especially in the roles of genomic variability and human health. However, intensive resource requirements and the associated costs make it infeasible to experimentally verify the effect o

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23

Kamat, M. A. "The involvement of non-B DNA forming sequences in mediating missense mutations, micro-deletions and micro-insertions in human inherited disease." Thesis, Nottingham Trent University, 2014. http://irep.ntu.ac.uk/id/eprint/3366/.

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The involvement of the local DNA sequence features (repetitive elements capable of adopting non-B structures, hotspot motifs, mononucleotide runs and tandem repeats) and epigenetic marks in mediating germline missense and nonsense mutations, micro-deletions and micro-insertions causing human inherited disease and obtained from Human Gene Mutation Database (HGMD; http://www.hgmd.org) was studied in silico. A novel algorithm with a linear running time has been designed to detect the non-B DNA forming repeats in DNA sequences. The distributions of these repeats in the vicinity of mutations were a

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24

Zein, Aiman. "Structure-Function Relationship of the Sterol Transporter ABCG5/G8: Expression, Purification and Enzymatic Characterization of ABCG5/G8 Missense Loss of Function Mutations." Thesis, Université d'Ottawa / University of Ottawa, 2020. http://hdl.handle.net/10393/40742.

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The heterodimeric ATP-binding cassette (ABC) transporter, ABCG5/G8, is responsible for direct secretion of cholesterol and dietary sterols into the gut lumen and the bile. Inactivating mutations of ABCG5/G8 cause sitosterolemia, a rare autosomal recessive disease characterized by the accumulation of plant sterols in plasma, hypercholesterolemia and development of premature coronary heart disease. Functional and structural characterization of ABCG5/G8 is necessary to understand its mechanism and how the genetic defects impact its function. In this thesis, I expressed seventeen constructs of var

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25

Zhao, Wenchao [Verfasser]. "Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations : The establishment of translating ribosome affinity purification / Wenchao Zhao." Bonn : Universitäts- und Landesbibliothek Bonn, 2020. http://d-nb.info/1222588757/34.

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26

Hedrich, Christian Michael, Agnieszka Zachurzok-Buczynska, Aneta Gawlik, et al. "Autosomal Dominant Neurohypophyseal Diabetes Insipidus in Two Families: Molecular Analysis of the Vasopressin-Neurophysin II Gene and Functional Studies of Three Missense Mutations." Karger, 2009. https://tud.qucosa.de/id/qucosa%3A27572.

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Background: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease with symptoms of polydipsia, polyuria and dehydration caused by arginine vasopressin deficiency. Disease onset is within infancy or adolescence. A variety of disease-causing mutations of the arginine vasopressin neurophysin II gene (AVP) on chromosome 20p13 have been described. Methods: Two Polish families with adFNDI were screened for mutations. Processing of wild-type (WT) and mutant AVP was monitored using immunocytochemical methods in stably transfected Neuro2A cells. AVP secretion into t

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27

Amzal, Rachida. "Pharmacothérapie ciblée dans la cholestase intrahépatique familiale progressive de type 2 (PFIC2)." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLS187.

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ABCB11/BSEP est le transporteur des acides biliaires, localisé au niveau du pôle canaliculaire des hépatocytes. Les mutations de ce gène sont responsables de la cholestase familiale intrahépatique progressive de type 2.Au cours de ma thèse, j’ai évalué la capacité des aminoglycosides et du PTC124 à induire la translecture de codons stop prématurés, l’adressage et la fonction de mutants non-sens et faux sens de Bsep ainsi que l’effet d’une bithérapie (translecture+chaperone).Dans nos modèles cellulaires, la gentamicine était capable d’induire la translecture du codon-stop prématuré du mutant no

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28

Tervasmäki, A. (Anna). "Hereditary predisposition to breast cancer:evaluating the role of rare copy number variant, protein-truncating and missense candidate alleles." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526220826.

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Abstract Breast cancer is the most common cancer among women, and inherited predisposition is one of the major recognized causes of increased breast cancer risk. Only about half of the hereditary cases are explained by mutations in the known susceptibility genes, including the DNA damage response genes BRCA1, BRCA2 and PALB2, leaving the majority still uncovered. Identification of the missing genetic predisposing factors is important for more effective diagnostics and counseling of the risk families, and also for better understanding of the etiology and cellular characteristics of breast cance

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29

Thomas, Anne [Verfasser]. "Characterization of the structural-functional impact of heterozygous missense mutations in genes of the blood coagulation factor XIII that cause mild Factor XIII deficiency / Anne Thomas." Bonn : Universitäts- und Landesbibliothek Bonn, 2018. http://d-nb.info/1153467062/34.

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30

Chen, Xuhua. "A missense mutation in Atf2 in standard poodles with fatal neonatal encephalopathy." Diss., Columbia, Mo. : University of Missouri-Columbia, 2007. http://hdl.handle.net/10355/6042.

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Thesis (M.S.)--University of Missouri-Columbia, 2007.<br>"May 2007" The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. Vita. Includes bibliographical references.

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31

Flemming, Gunter. "Funktionelle Charakterisierung heterozygoter GLI2 missense Mutationen bei Patienten mit multiplem hypophysären Hormonmangel." Doctoral thesis, Universitätsbibliothek Leipzig, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-130953.

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Der GLI2-Transkriptionsfaktor ist eines der Haupt Effektor-Proteine des Sonic Hedgehog (SHH)-Signalweges und hat vermutlich eine Schlüsselfunktion in der Entwicklung der Hypophyse. Genomische GLI2-Veränderungen welche zu abgeschnittenen Proteinen führten, wurden beschrieben als Ursache für Holoprosenzephalie (HPE) oder HPE-ähnliche Veränderungen, teilweise in Verbindung mit einer Hypophysenunterfunktion. Ziel dieser Arbeit war die Ermittlung der Frequenz von GLI2-Mutationen in Patienten mit multiplem hypophysärem Hormonausfall (multiple pituitary hormone deficiency, MPHD) und eine funktionell

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32

Schindlbeck, Ulrike [Verfasser], and Matthias [Akademischer Betreuer] Griese. "Charakterisierung neuer Missense Mutationen im Lipidtransporter ABCA3 / Ulrike Schindlbeck ; Betreuer: Matthias Griese." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2019. http://d-nb.info/119981640X/34.

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33

Ramirez, Christina J. "BRCA genes : conserved regions and the potential effect of missense changes /." Thesis, Connect to this title online; UW restricted, 2005. http://hdl.handle.net/1773/5052.

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34

Yu, Yanan. "NF1 Patient Missense Variants Predict a Role for ATM in Modifying Neurofibroma Initiation." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592395217393569.

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35

Kobayashi, Hiromasa. "A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity." Kyoto University, 2004. http://hdl.handle.net/2433/148274.

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36

Yoshida, Hidetada. "Characterization of a novel missense mutation in the pore of HERG in a patient with long QTsyndrome." Kyoto University, 2001. http://hdl.handle.net/2433/150536.

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37

Robins, Tiina. "Functional and structural studies on CYP21 mutants in congenital adrenal hyperplasia /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-529-1/.

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38

Saito, Hidehiko, Shigeru Shirakawa, Katsumi Deguchi, et al. "Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C." Thesis, Elsevier, 1992. http://hdl.handle.net/2237/16344.

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39

Tanaka, Naoto. "A MISSENSE MUTATION IN CONE PHOTORECEPTOR CYCLIC NUCLEOTIDE-GATED CHANNELS ASSOCIATED WITH CANINE DAYLIGHT BLINDNESS OFFERS INSIGHT INTO CHANNEL STRUCTURE AND FUNCTION." Diss., Temple University Libraries, 2013. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/246634.

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Biology<br>Ph.D.<br>Cone cyclic nucleotide-gated (CNG) channels are located in the retinal outer segments, mediating daylight color vision. The channel is a tetramer of A-type (CNGA3) and B-type (CNGB3) subunits. CNGA3 subunits are able to form homotetrameric channels, but CNGB3 exhibits channel function only when co-expressed with CNGA3. Mutations in the genes encoding these cone CNG subunits are associated with achromatopsia, an autosomal recessive genetic disorder which causes incomplete or complete loss of daylight and color vision. A missense mutation, aspartatic acid (Asp) to asparagine

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40

Bogomolovas, Julius, Jennifer R. Fleming, Brian R. Anderson, et al. "Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I." ROYAL SOC, 2016. http://hdl.handle.net/10150/621990.

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Missense single-nucleotide polymorphisms (mSNPs) in titin are emerging as a main causative factor of heart failure. However, distinguishing between benign and disease-causing mSNPs is a substantial challenge. Here, we research the question of whether a single mSNP in a generic domain of titin can affect heart function as a whole and, if so, how. For this, we studied the mSNP T2850I, seemingly linked to arrhythmogenic right ventricular cardiomyopathy (ARVC). We used structural biology, computational simulations and transgenic muscle in vivo methods to track the effect of the mutation from the m

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41

Bengtson, Per. "Carbohydrate dependent adhesion of leukocytes and the role of fucosyltransferase VII /." Linköping : Univ, 2003. http://www.bibl.liu.se/liupubl/disp/disp2003/med762s.pdf.

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42

Cotta, Doné Stefania. "Nephrin - intracellular trafficking and podocyte maturation /." Stockholm, 2007. http://diss.kib.ki.se/2007/978-91-7357-411-2/.

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43

Jackisch, Elisa [Verfasser], Jeanette [Akademischer Betreuer] Erdmann, and Joachim [Gutachter] Weil. "Bedeutung einer Missense-Mutation im ADCY8-Gen auf die Genregulation in einer Myokardinfarkt-Großfamilie / Elisa Jackisch ; Gutachter: Joachim Weil ; Akademischer Betreuer: Jeanette Erdmann." Lübeck : Zentrale Hochschulbibliothek Lübeck, 2020. http://d-nb.info/1208539701/34.

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44

Liu, Xiao Li. "Nephrin: cellular trafficking and intracellular interactions /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7349-899-8/.

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45

Flemming, Gunter [Verfasser], Roland [Akademischer Betreuer] Pfäffle, Jürgen [Akademischer Betreuer] Klammt, Thomas [Gutachter] Kapellen, and Michael [Gutachter] Stumvoll. "Funktionelle Charakterisierung heterozygoter GLI2 missense Mutationen bei Patienten mit multiplem hypophysären Hormonmangel / Gunter Flemming ; Gutachter: Thomas Kapellen, Michael Stumvoll ; Roland Pfäffle, Jürgen Klammt." Leipzig : Universitätsbibliothek Leipzig, 2014. http://d-nb.info/1238599737/34.

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46

Tokuda, Satoko. "The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca[2+] channel α1A subunit gene and exhibits absence seizures". Kyoto University, 2007. http://hdl.handle.net/2433/135666.

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VITALE, Alessandra Maria. "GENETIC NEUROCHAPERONOPATHIES ASSOCIATED WITH CCT5 AND HSP60 VARIANTS: ANALYSIS OF THEIR MOLECULAR ANATOMY AND POSSIBLE PATHOGENIC IMPLICATIONS." Doctoral thesis, Università degli Studi di Palermo, 2022. https://hdl.handle.net/10447/563680.

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Lohmöller, Benjamin [Verfasser], and Chris [Akademischer Betreuer] Mühlhausen. "Glutarazidurie Typ 1 : Untersuchungen zu Auswirkungen von „missense“-Mutationen auf Enzymexpression, Enzymsortierung, Enzymstabilität und den Abbau der Glutaryl-Coenzym A Dehydrogenase in der Zellkultur / Benjamin Lohmöller ; Betreuer: Chris Mühlhausen." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1161530339/34.

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Decaudin, Camille. "Impacts fonctionnels et conséquences sur la différenciation hématopoïétique d’une mutation somatique récurrente du gène PU.1/SPI1 identifiée dans la macroglobulinémie de Waldenström A Recurrent Activating Missense Mutation in Waldenström Macroglobulinemia Affects the DNA Binding of the ETS Transcription Factor SPI1 and Enhances Proliferation." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASL004.

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Le facteur de transcription PU.1/SPI1 de la famille ETS est un régulateur majeur de l'hématopoïèse, et de la différenciation des cellules souches, myéloïdes et lymphoïdes. Précédemment identifié comme un suppresseur de tumeur dans les malignités myéloïdes humaines, nous avons identifié une mutation somatique récurrente faux sens (Q226E) du gène PU.1 dans la macroglobulinémie de Waldenström, un syndrome lymphoprolifératif à cellules B. La mutation affecte la liaison à l'ADN de la protéine et permet au mutant de se lier et d'activer plus fréquemment les régions promotrices par rapport à la proté

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Borges, Luciana Moreira. "VALOR PREDITIVO DA MUTAÇÃO R337H DO GENE TP53 COMO UM MARCADOR CLÍNICO EM PACIENTES COM CÂNCER." Pontifícia Universidade Católica de Goiás, 2014. http://localhost:8080/tede/handle/tede/2379.

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Made available in DSpace on 2016-08-10T10:38:49Z (GMT). No. of bitstreams: 1 LUCIANA MOREIRA BORGES.pdf: 1848721 bytes, checksum: 3b9777e8d534e26ba687aa1328ac6555 (MD5) Previous issue date: 2014-04-07<br>Introduction: the R337H mutation of the TP53 gene was originated in the Brazilian population through a founder effect and is considered a molecular defect of low penetrance. In combination with some polymorphisms, the R337H mutation can increase the susceptibility to tumor. The frequency of the R337H mutation in Brazilian families is considered high when compared to the observed frequencies

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