FP054PHENOTYPIC ANALYSIS OF A COHORT OF PATIENTS WITH HEPATOCYTE NUCLEAR FACTOR 1 BETA (HNF1b) MUTATIONS
نویسندگان
چکیده
منابع مشابه
Contrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1 and -1 Mutations
OBJECTIVE — Mutations in the highly homologous transcription factors hepatocyte nuclear factor (HNF)-1 and -1 cause maturity-onset diabetes of the young types 3 and 5, respectively. Diabetes due to HNF-1 mutations is well characterized. However, physiological assessment of the HNF-1 phenotype is limited. We aimed to test the hypothesis that the diabetes phenotype due to HNF-1 mutations is simil...
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The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role for the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets and is involved in the embryonic development of these organs. TCF2 mutations are known to be responsible for the maturity-onset diabetes of the young type 5 associated with renal manifestations. Severa...
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15 صفحه اولAnalysis of hepatocyte nuclear factor-3 beta protein domains required for transcriptional activation and nuclear targeting.
Three distinct hepatocyte nuclear factor 3 (HNF-3) proteins (alpha, beta and gamma) regulate transcription of the transthyretin (TTR) and numerous other liver-specific genes. The HNF-3 proteins bind DNA via a homologous winged helix motif common to a number of developmental regulatory proteins including the Drosophila homeotic fork head (fkh) protein. The mammalian HNF-3/fkh family consists of ...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2015
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/gfv167.10