Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
نویسندگان
چکیده
منابع مشابه
association study between metabolic syndrome and rs8066560 polymorphism in the promoter region of sterol regulatory element‑binding transcription factor 1 gene in iranian children and adolescents
background: metabolic syndrome (mets) is a prevalent disorder in pediatric age groups, described by a combination of genetic and environmental factors. sterol regulatory element‑binding transcription factor 1 (srebf‑1) induces the expression of a family of genes involved in fatty acid synthesis. moreover, dysregulation of mir‑33b, which is located within the intron 17 of the srebf‑1 gene, disru...
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The morbidity and mortality associated with endometrial cancer (EC) has increased in recent years. Regarded as a tumor suppressor, forkhead transcription factor 1 (FOXO1) has various biological activities and participates in cell cycle progression, apoptosis and differentiation. Notably, FOXO1 also functions in the regulation of lipogenesis and energy metabolism. Lipogenesis is a feature of can...
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Diacylglycerol kinase (DGK)θ is a lipid kinase that phosphorylates diacylglycerol to form phosphatidic acid (PA). We have previously shown that PA is a ligand for the nuclear receptor steroidogenic factor 1 (SF1) and that cAMP-stimulated expression of SF1 target genes requires DGKθ. In this study, we sought to investigate the role of cAMP signaling in regulating DGKθ gene expression. Real time ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2020
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2020.05.006