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Thèses sur le sujet « Ms polymorphism »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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1

Emmanuel, Alexandra. "Mise en place d’une approche protéomique en vue d’une application au diagnostic d’infections parasitaires congénitales." Electronic Thesis or Diss., Sorbonne Paris Cité, 2017. http://www.theses.fr/2017USPCB137.

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Au cours des deux dernières décennies, la spectrométrie de masse (MS) est devenue un outil incontournable dans la caractérisation des protéines comme les IgG. Ces anticorps assurent la protection de l'organisme contre les antigènes, qu'ils reconnaissent grâce aux domaines variables de leurs chaînes lourdes et légères. Des séquences polymorphes existent également au niveau des domaines constants CH2 et CH3 du fragment Fc, impliquant quelques acides aminés, qui définissent ainsi 34 allèles protéiques IGHG des 4 sous-classes d'IgG. Des relations sont établies entre certains de ces polymorphismes

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Glas, Michael. "Mutationsanalyse im p53-Gen bei Patienten mit Multipler Sklerose." Doctoral thesis, [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=969662440.

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LOTTO, VALENTINA. "Nutrient-gene interactions within one-carbon metabolism and effects on epigenetic regulation through dna methylation in peripheral blood mononuclear cells." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2010. http://hdl.handle.net/10281/18016.

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Epigenetics is a field of molecular biology that copes with the study of gene function regulation without variations in DNA structure or nucleotide sequences. Among the main epigenetic phenomema in eukaryotic cells there are DNA methylation and post-traslational mechanisms among which the major are histone methylation and acetylation. Epigenetic changes are potentially reversible phenomena that are controlled also by nutritional factors as the methyl-donors involved in the folate cycle. Plasma levels of B vitamins, among which “in primis” plasma folate concentrations, are implicated in epig

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4

Eriksson, Jenny. "Studies of Eosinophil Cationic Protein (ECP) in vivo and in vitro : Impact of Genetic and Posttranslational Modifications." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-8261.

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Mann, C. L. A. "The relationship of genetic polymorphisms to disease severity of multiple sclerosis." Thesis, Keele University, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.341244.

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The glutathione S-transferase (GST) supergene family encodes isoenzymes that appear to be critical in protection against oxidative stress. Certain GST loci are polymorphic, demonstrating alleles that are null (GSTMI/GSTT1), encode low activity variants (GSTPI), or are associated with variable inducibility (GSTM3). Interleukin-1 (IL- 1) alpha and beta are cytokines involved in recruitment of inflammatory cells, the process of inflammation, and blood-brain barrier breakdown and nerve regeneration. Polymorphisms of both GST and of a complementary interleukin-1 receptor antagonist have been associ

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Davis, William Henry. "Development of a high-throughput genotyping assay for detection of functional polymorphisms involved in homocysteine metabolism and the methylation process implicated in multiple sclerosis." Thesis, Stellenbosch : Stellenbosch University, 2013. http://hdl.handle.net/10019.1/95457.

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Thesis (MMedSc)--Stellenbosch University, 2013.<br>ENGLISH ABSTRACT: The aetiology of multiple sclerosis (MS) remains largely unknown due to the multifactorial nature of disease susceptibility determined by both environmental and genetic factors. Progress has been made in identifying the genetic component of MS , as well as the possible interactions with the environment. In this study single nucleotide polymorphisms (SNPs) in the FTO (rs9939609, Intron 1 T>A), MTR (rs1805087, 2756 A>G), MTRR (rs1801394, 66 A>G), MTHFR (rs1801133, 677 C>T and rs1801131, 1298 A>C) and COMT (rs46

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Vogl, Silvia [Verfasser], and Gilbert [Akademischer Betreuer] Schönfelder. "Investigation of individual differences in the metabolic elimination of drugs by the polymorphic enzymes CYP2C9, 2C19 and 2D6 based on metabolite profiling by LC-MS/MS / Silvia Vogl, geb. Baumann. Betreuer: Gilbert Schönfelder." Würzburg : Universitätsbibliothek der Universität Würzburg, 2012. http://d-nb.info/1019944765/34.

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Mossi, Altemir José. "Variabilidade genética e de compostos voláteis e semi-voláteis em Maytenus ilicifolia Mart. ex Reiss." Universidade Federal de São Carlos, 2003. https://repositorio.ufscar.br/handle/ufscar/1742.

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Made available in DSpace on 2016-06-02T19:29:41Z (GMT). No. of bitstreams: 1 TeseAJM.pdf: 1132829 bytes, checksum: d7a4ea748d124c0e0dddf18933cbad53 (MD5) Previous issue date: 2003-04-29<br>Universidade Estadual de Maringá<br>Genetic and chemical variability of Maytenus ilicifolia Maytenus ilicifolia is a native plant of Southern Brazil commonly used as a popular medicine for indigestion, gastritis and ulcers. The large use of this plant has increased the degradation of the species, and thus it is presently included in FAO´s list for priority species for studying and conservation in South Ame

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Al, Saabi Alaa. "Relevance of Ethylglucuronide as a marker of alcohol consumption : development of dosage methods and study of factors potentially affecting its production." Phd thesis, Université du Droit et de la Santé - Lille II, 2013. http://tel.archives-ouvertes.fr/tel-00992193.

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La consommation excessive d'alcool présente des risques élevés pour l'individu et pour la société ; elle est fréquemment associée à une augmentation du risque d'accidents, d'actes de violence, et peut également conduire à court et/ou à long terme à de graves maladies et à des problèmes sociaux. Dès lors, l'utilisation de marqueurs fiables permettant de détecter une consommation excessive d'alcool, ponctuelle ou chronique, s'avère nécessaire pour prévenir des conséquences néfastes de l'abus d'alcool. L'éthylglucuronide (EtG) est un marqueur d'alcoolisation utilisé en toxicologie clinique (alcoo

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Cansian, Rogério Luis. "Variabilidade genética e de compostos voláteis e semi-voláteis em populações nativas de llex paraguariensis (St. Hil.) do Brasil, visando a conservação da espécie." Universidade Federal de São Carlos, 2003. https://repositorio.ufscar.br/handle/ufscar/1862.

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Made available in DSpace on 2016-06-02T19:30:14Z (GMT). No. of bitstreams: 1 TeseRLC.pdf: 1717916 bytes, checksum: a24259cd3e84bb299a7f0093b50f8ad8 (MD5) Previous issue date: 2003-04-29<br>Universidade Estadual de Maringá<br>Ilex paraguariensis, known as mate tea, is processed in many ways and commercialized as tea, soluble powder, essences, and processed leaves for preparation of mate tea without sugar ( chimarrão and tererê ). Aiming the conservation of this species, this work studied the intra- and interpopulational genetic variabilities of I. paraguariensis and its volatiles and semi-v

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Silva, Jaine Soares Lima da. "Análise da contribuição do inflamassoma na patogênese da esclerose múltipla." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5133/tde-19022019-112809/.

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A esclerose múltipla (EM), doença neurodegenerativa do sistema nervoso central (SNC) com característica auto-imune e inflamatória, com eventos iniciais, bem como a evolução da EM. É uma doença heterogênea (três principais formas clínicas) e multifatoriais. A imunidade inata demonstrou recentemente ser um fator importante na EM e as variantes genéticas dos componentes do inflamassoma têm sido associadas a doenças autoimunes e neurodegenerativas, com isso hipotetizamos que o inflamassoma e suas citocinas IL-1Beta e IL-18, podem representar importantes contribuintes na patogênese da EM e eventual

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12

Dekker, James William. "Amplified fragment length polymorphism typing of HLA-DPB1 and associations with IDDM and MS." Phd thesis, 1991. http://hdl.handle.net/1885/141170.

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13

FRISO, Simonetta. "GENE-NUTRIENT INTERACTIONS AND EPIGENETICS. BIOCHEMICAL BASES OF THE ROLE OF PLASMA AND RED BLOOD CELL FOLATE, THE MTHFR C677T POLYMORPHISM AND GENOMIC DNA METHYLATION." Doctoral thesis, 2002. http://hdl.handle.net/11562/364225.

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La metilazione del DNA, una caratteristica epigenetica essenziale del DNA che modula l'espressione genica e l'integrità del genoma, è catalizzata da metiltrasferasi che utilizzano la S-adenosilmetionina (SAM) quale donatore universale di gruppi metilici. L'enzima metilenetetraidrofolato reduttasi (MTHFR) catalizza la sintesi del 5-metiltetraidrofolato (5-methylTHF), il donatore di gruppi metilici per la sintesi di metionina dall'omocisteina e precursore della SAM. Nel presente studio si è voluto determinare l'effetto dello status dei folati sulla metilazione genomica del DNA con particolare en

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Valado, Ana Maria de Figueiredo. "Marcadores biológicos na esclerose múltipla: relevância no prognóstico e terapêutica." Doctoral thesis, 2018. http://hdl.handle.net/10316/80037.

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Tese de doutoramento em Biociências, no ramo de Biologia Celular e Molecular, apresentada ao Departamento de Ciências da Vida, da Faculdade de Ciências e Tecnologia da Universidade de Coimbra<br>Esclerose múltipla (EM) é uma doença multifatorial, inflamatória, desmielinizante e neurodegenerativa, com interrupção da transmissão nervosa no SNC. De etiologia pouco conhecida, uma reação autoimune direcionada contra antigénios da substância branca e auto-reatividade de células imunes através da BHE, mostraram ser cruciais na formação das lesões inflamatórias. O curso clínico da doença é altamente i

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Shyu, Chiou-Rong, and 徐秋蓉. "A Study of the Associations of Polymorphisms of GNMT, MTHFR and MS Genes in Human Hepatocellular Carcinoma." Thesis, 2004. http://ndltd.ncl.edu.tw/handle/78051329459866835141.

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碩士<br>國立陽明大學<br>公共衛生研究所<br>92<br>Abstract Abnormal DNA methylation may affect chromosomal stability and gene expression. Many studies have shown an association between abnormal DNA methylation and an increased risk for the development of cancer. It has been shown that genes participated in the one carbon metabolism pathway, such as glycine N-methyltransferase (GNMT), 5, 10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are involved in the regulation of the methylation level of DNA. Therefore, the goals of this study were 1. To tudy the association and interactions

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Vogl, Silvia (geb Baumann). "Investigation of individual differences in the metabolic elimination of drugs by the polymorphic enzymes CYP2C9, 2C19 and 2D6 based on metabolite profiling by LC-MS/MS." Doctoral thesis, 2011. https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-67216.

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Mit der vorliegenden Studie sollte zu dem wichtigen Forschungsfeld der Pharmakogenetik beigetragen werden, indem zum einen eine einfache und sichere kombinierte Phänotypisierung der drei zuvor erwähnten CYPs (CYP2D6, CYP2C9 und CYP2C19) entwickelt, und zum anderen die Vorhersagekraft des Genotyps für den gemessenen Phänotyp näher untersucht werden sollte. Es ist uns gelungen eine sichere, einfache, schnelle und kombinierte Phänotypisierung der beiden wichtigen Monooxygenasen CYP2D6 und CYP2C9 zu etablieren. Zunächst wurden dazu Wechselwirkungsstudien mit den ausgewählten Testsubstanzen Dextrom

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17

Ho, Chiao-Wei, and 何皎葦. "A study of the Associations of Polymorphisms of GNMT, MTHFR, MS Genes and Urinary Excretion of 1-hydroxypyrene(1-OHP) and 8-hydroxy-2-deoxyguanosine(8-OHdG) in Polycyclic Aromatic Hydrocarbons(PAHs) Exposed Workers." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/10140923648594028981.

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碩士<br>國立陽明大學<br>公共衛生研究所<br>93<br>Coke-oven workers (COWs) are occupationally exposed to high concentrations of polycyclic aromatic hydrocarbons (PAHs), especially workers near the topside of the oven. Uninary 8-hydroxy-2-deoxyquanosine (8-OH-dG) and 1-hydroxypyrene (1-OHP) are biomarkers of oxidative DNA damage and PAH metabolism, respectively. Previously, we found that glycine N-methyltransferase (GNMT) can bind benzo(a)pyrene (BaP) and inhibit DNA adducts formation. Since methionine synthase (MS), 5,10-methylene- tetrahydrofolate reductase (MTHFR) and GNMT are involved in the one-carbon meta

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