Literatura científica selecionada sobre o tema "Syndrome métabolique – Génétique moléculaire"
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Artigos de revistas sobre o assunto "Syndrome métabolique – Génétique moléculaire"
Tisha, J., P. Lahiry, R. L. Pollex e Robert A. Hegele. "Génétique du syndrome métabolique". Bio tribune magazine 30, n.º 1 (março de 2009): 25–32. http://dx.doi.org/10.1007/s11834-009-0110-9.
Texto completo da fontePhilip, N. "Génétique moléculaire du syndrome de Williams". Archives de Pédiatrie 8 (maio de 2001): 353–54. http://dx.doi.org/10.1016/s0929-693x(01)80072-5.
Texto completo da fonteSuter. "Metabolisches Syndrom". Praxis 92, n.º 15 (1 de abril de 2003): 681–88. http://dx.doi.org/10.1024/0369-8394.92.15.681.
Texto completo da fonteUrtizberea, J. Andoni, Gianmarco Severa, Juliette Ropars e Edoardo Malfatti. "Le syndrome de Schwartz-Jampel". médecine/sciences 39 (novembro de 2023): 37–46. http://dx.doi.org/10.1051/medsci/2023133.
Texto completo da fonteTrimèche, S., J. F. Thuan Dit Dieudonne, C. Jeandel, F. Paris, I. Simoni-Brum, F. Orio e C. Sultan. "Syndrome des ovaires polykystiques en période péripubertaire : polymorphisme clinique, biologique, métabolique et génétique". EMC - Gynécologie-Obstétrique 2, n.º 1 (fevereiro de 2005): 1–17. http://dx.doi.org/10.1016/j.emcgo.2004.10.004.
Texto completo da fonteLeclerc-Mercier, S., S. Fraitag, F. Dufernez, F. Chevy, A. Lamazière, C. Bodemer, J. C. Fournet e S. Hadj-Rabia. "Syndrome de Conradi-Hünermann-Happle : étude clinique, histologique, métabolique et moléculaire chez quatre patientes". Annales de Dermatologie et de Vénéréologie 138, n.º 12 (dezembro de 2011): A70—A71. http://dx.doi.org/10.1016/j.annder.2011.09.068.
Texto completo da fonteDewailly, D. "Le syndrome des ovaires polykystiques en période péripubertaire : polymorphisme clinique, biologique, métabolique et génétique". Gynécologie Obstétrique & Fertilité 33, n.º 1-2 (janeiro de 2005): 83–84. http://dx.doi.org/10.1016/j.gyobfe.2004.10.003.
Texto completo da fonteBenbellal, Amina, Hanène Belabbassi, Sarrah Ait Ziane e Houria Kaced. "Management of type IV A mucopolysaccharidosis or Marquio A syndrome (A case report)". Batna Journal of Medical Sciences (BJMS) 6, n.º 2 (30 de dezembro de 2019): 121–24. http://dx.doi.org/10.48087/bjmscr.2019.6209.
Texto completo da fonteMach, Sobetzko, Superti-Furga e Stoll. "Vorzeitig generalisierte Polyarthrose (Stickler Syndrom)". Praxis 91, n.º 9 (1 de fevereiro de 2002): 361–66. http://dx.doi.org/10.1024/0369-8394.91.9.361.
Texto completo da fonteTrimèche, S., J. F. Thuan Dit Dieudonne, C. Jeandel, F. Paris, I. Simoni-Brum, F. Orio e C. Sultan. "Le syndrome des ovaires polykystiques en période péri-pubertaire : polymorphisme clinique, biologique, métabolique et génétique". Gynécologie Obstétrique & Fertilité 32, n.º 1 (janeiro de 2004): 3–17. http://dx.doi.org/10.1016/j.gyobfe.2003.10.027.
Texto completo da fonteTeses / dissertações sobre o assunto "Syndrome métabolique – Génétique moléculaire"
Didiot, Marie-Cécile. "Bases moléculaires du syndrome de l’X fragile : Etude de l'implication de la protéine FMRP dans le métabolisme des ARN messagers". Université Louis Pasteur (Strasbourg) (1971-2008), 2008. https://publication-theses.unistra.fr/public/theses_doctorat/2008/DIDIOT_Marie-Cecile_2008.pdf.
Texto completo da fonteMellaoui, Samia. "Rôle de la protéine FMRP dans la formation et le dynamisme des granules à ARN". Thesis, Université Laval, 2012. http://www.theses.ulaval.ca/2012/29529/29529.pdf.
Texto completo da fonteTurcot, Valérie. "Génétique et épigénétique du syndrome métabolique". Thesis, Université Laval, 2012. http://www.theses.ulaval.ca/2012/29169/29169.pdf.
Texto completo da fonteVigé, Alexandre. "Epigénomique nutritionnelle du syndrome métabolique". Paris 5, 2007. http://www.theses.fr/2007PA05P602.
Texto completo da fonteEpigenetic changes associated with DNA methylation and histone modifications leading to chromatin remodeling and regulation of gene expression underlie the developmental programming of obesity, type 2 diabetes, cardiovascular diseases and metabolic syndrome. This review focuses on converging data supporting the hypothesis that, in addition to "thrifty genotype" inheritance, individuals with obesity, type 2 diabetes, and metabolic syndrome (MetS) with an increased risk of cardiovascular diseases have suffered improper "epigenetic programming" during their fetal/postnatal development due to maternal inadequate nutrition and metabolic disturbances and also during their lifetime, that could even be transmitted to the next generation(s). We highlight the susceptibility of epigenetic mechanisms controlling gene expression to environmental influences due to their inherent malleability, emphasizing the participation of transposable elements and the potential role of imprinted genes during critical time windows in epigenetic programming, from the very beginning of development, throughout life. Increasing our understanding on epigenetic patterns significance and their role in development, evolution and adaptation and on small molecules (nutrients, drugs) that reverse epigenetic (in)activation should provide us with the means to "unlock" silenced (enhanced) genes, and to "convert" the obsolete human thrifty genotype into a "squandering" phenotype
Qu, Mengdi. "Molecular mechanism underlying CaMK1D-dependent function in AgRP neurons". Electronic Thesis or Diss., Strasbourg, 2024. http://www.theses.fr/2024STRAJ029.
Texto completo da fonteDisruption of stress response mechanisms in organisms can lead to cellular dysfunction and diseases like metabolic syndrome. Energy balance is mainly regulated by the central nervous system (CNS), which integrates hormonal, neuronal, and dietary signals from various tissues. Dysfunction in this system is linked to obesity and metabolic syndrome, both precursors to type 2 diabetes (T2D). Our laboratory discovered that calcium/calmodulin-dependent protein kinase ID (CaMK1D), a gene associated with T2D, promotes ghrelin-mediated food intake in mice. However, CaMK1D signaling in NPY/AgRP neurons still remains questions. In this work, we proformed RNA sequencing using the GT1-7 hypothalamic cell line. To this end, we found that CalHM6 is a downstream target of CaMK1D signaling. CalHM6 mRNA levels were significantly upregulated in CaMK1D-/- cells and downregulated when CaMK1D was re-expressed. This was confirmed in vivo in the hypothalamus of CaMK1D-/- mice. CalHM6, likely a voltage-gated calcium channel, showed increased intracellular Ca2+ levels in response to ghrelin in CaMK1D-/- cells compared to CaMK1D+/+ cells using jGCamps method. Altogether, our work showed CalHM6 is a novel target of CaMK1D. High CaMK1D, leading to low CalHM6 expression, may enhance food intake and obesity by modulating calcium-dependent signaling in NPY/AgRP neuron
Legry, Vanessa. "Recherche de déterminants génétiques des phénotypes associés au syndrome métabolique en population". Phd thesis, Université du Droit et de la Santé - Lille II, 2009. http://tel.archives-ouvertes.fr/tel-00426888.
Texto completo da fonteMaumus, Sandy. "Approche de la complexité du syndrome métabolique et de ses indicateurs de risuqe par la mise en œuvre de méthodes numériques et symboliques de fouille de données". Nancy 1, 2005. http://www.theses.fr/2005NAN12506.
Texto completo da fonteMaumus, Sandy. "Approche de la complexité du syndrome métabolique et de ses indicateurs de risuqe par la mise en œuvre de méthodes numériques et symboliques de fouille de données". Nancy 1, 2005. http://www.theses.fr/2005NAN10209.
Texto completo da fonteIssa, Sarah. "Améliorer la comprehension moléculaire du syndrome de Waardenburg". Thesis, Paris Est, 2017. http://www.theses.fr/2017PESC0012.
Texto completo da fonteWaardenburg Syndrome (WS) is a neurocristopathy that encompasses both auditory and pigmentary abnormalities and is usually due to an absence of melanocytes from the hair, skin, eyes and cochlea. Additional clinical findings such as musculoskeletal or craniofacial abnormalities, Hirschsprung disease or neurological deficiencies characterize the different subtypes of this syndrome (WS1-WS4).Starting with PAX3 in 1992, five major genes have been linked to WS. Nevertheless, a lot of cases remain unexplained, especially in WS2, which is the most difficult subtype to diagnose on the clinical point of view as it lacks any other feature. The five main genes; PAX3, MITF, SOX10, EDNRB and EDN3, seem to be part of a gene regulatory network.My PhD project was to enhance the molecular and genetic understanding of WS2. To do so, whole exome sequencing was performed on trios and families with WS2. After the identification of a mutation in EDNRB (previously involved in WS4) in a WS2 patient, screening of other cases revealed additional variations in this gene. Complementary clinical investigations, molecular studies and in vitro functional tests unraveled a dominant mode of inheritance with incomplete penetrance. We evaluated EDNRB mutations to be responsible for 5-6% of WS2 cases. This discovery helps in better understanding the molecular pathways of this syndrome and further confirms its genetic complexity
Bossé, Yohan. "Genetic Susceptibility to the Metabolic Syndrome". Thesis, Université Laval, 2004. http://www.theses.ulaval.ca/2004/22151/22151.pdf.
Texto completo da fonteThe metabolic syndrome is a cluster of interrelated cardiovascular risk factors co-occurring in the same individual. People with this syndrome are at increased risk for developing diabetes mellitus and cardiovascular diseases. Accordingly, it is important to elucidate the genetic aetiology governing this trait in order to better comprehend its pathogenesis. In the present thesis, heritability and complex segregation analyses as well as candidate gene and genome-wide scan approaches have been applied to shed some lights on the genetic architecture of the metabolic syndrome and its individual components. A total of three candidate genes have been investigated including peroxisome proliferator-activated receptor (PPAR) α and PPARγ as well as phospholipid transfer protein (PLTP). It has been shown that polymorphisms in both PPARα and PLTP genes are significantly associated with several indices of adiposity. In addition, significant gene-gene interactions have been observed between PPARα and PPARγ on glucose/insulin parameters. It has also been shown that the HDL2-cholesterol response to gemfibrozil therapy is modulated by the PPARα L162V polymorphism. Genome-wide linkage scans have been performed on lipid and lipoprotein concentrations. Many chromosome regions harbouring lipoprotein/lipid genes have been identified including 1q43, 11q13 q24, 15q26.1, and 19q13.32 for LDL-cholesterol, 12q14.1 for HDL-cholesterol, 2p14, 11p13, and 11q24.1 for triglycerides, 18q21.32 for LDL-apolipoprotein (apo) B, and 3p25.2 for apoAI. The genetic contribution of the variation in LDL peak particle diameter (LDL-PPD) has been also investigated. Overall, the results indicate: 1) that LDL-PPD strongly aggregates within families with heritability estimate above 50%; 2) the existence of a major gene effect affecting the phenotype; and 3) the presence of a major quantitative trait locus located on chromosome 17q. The apo H gene, a positional candidate gene, was then significantly associated with LDL-PPD, suggesting that this gene is responsible for the linkage signal observed on 17q. Finally, factor analyses have been used to construct a quantitative metabolic syndrome variable and a genome-wide linkage scan has been conducted to identify the genomic regions underlying this trait. A major quantitative trait locus has been observed on chromosome 15q suggesting a gene within this region contributing to the clustering of the metabolic syndrome-related phenotypes. Many of these findings must go through independent replication, while others produced new leads that deserve follow-up.
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