Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"PCSK1"”.
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Individual genetic variations of eight SNPs associated with risk of obesity in preschool age children from STRONG Kids Program
… pathway (i.e. BDNF, FTO, LEP, LEPR, MC4R, PCSK1, POMC, TUB) have been associated with symptoms of poor appetite control and obesity-related phenotypes. Hypothesis. Individual genetic variations related to satiety and appetite control in the BDNF, FTO, LEP, LEPR, MC4R, PCSK1, POMC, and TUB …
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Modeling Monogenic Diabetes Mody3 Using Human Pluripotent Stem Cells
… in the Hnf1α mouse model such us HNF4A, PCSK1, GC, DDP4, KIF12 6GPC2 and others. Besides, we also found a large number of genes to be uniquely dis-regulated in the human model, which could explain the species-specific phenotype. These genes include the transcription factors RFX6, GLIS3 …
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The endoplasmic reticulum chaperone ERdj4 is required for survival, glucose metabolism and B cell development
… ERdj4. The insulin processing enzymes, including Pcsk1, Pcsk2 and CPE, also associated with ERdj4, contributing to defects in proinsulin biosynthesis in ERdj4 gene trap mice. ERdj4 deficiency also resulted in pancreatic a-cell hyperplasia in association with increased ER stress. Since previous …
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Understanding the Aetiology of Metabolic Diseases and Related Phenotypes through Human Genetics
… the gene-level, I confirmed that MC4R, POMC, and PCSK1 exhibit haploinsufficiency effects on adult BMI using gene burden tests of rare variants with predicted LoF effects. From a clinical genetics perspective, this study underscored the utility of biobank datasets in informing the variant …
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Phenotypic analysis of human stem cells and their differentiation potential towards pancreatic cells
… PDX-1, SOX-17, Arx, CXCR4, HNF6, glucagon, and PCSK1. However, they did not express insulin. In contrast, ASCs cultured in a published medium on ultra-low attachment plates contained high levels of insulin detectable by a widely used guinea-pig anti-insulin antibody. However, this result is …
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Mechanisms by which variants in the TCF7L2 gene increase the risk of developing Type 2 diabetes
Type 2 diabetes mellitus (T2DM) is a heterogeneous disease with a multifactorial aetiology comprising of genetic and environmental factors. The common variant most highly associated with T2DM known to date is a SNP rs7903146 in the TCF7L2 gene. However, the role TCF7L2 plays in the development of …