Mutations in hepatocyte nuclear factor-1 and their related phenotypes
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...
متن کاملRenal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
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...
متن کاملHepatocyte nuclear factor 1 and hypertensive nephropathy.
Hypertension in spontaneously hypertensive rat (SHR) is associated with renal redox stress, and we hypothesized that nephropathy arises in SHR-A3 from altered capacity to mitigate redox stress compared with nephropathy-resistant SHR lines. We measured renal expression of redox genes in distinct lines of the spontaneously hypertensive rat (SHR-A3, SHR-B2, SHR-C) and the normotensive Wistar-Kyoto...
متن کاملContrasting Insulin Sensitivity of Endogenous Glucose Production Rate in Subjects With Hepatocyte Nuclear Factor-1 and -1 Mutations
Heterozygous mutations in the transcription factors hepatocyte nuclear factor (HNF)-1 and -1 result in MODY (maturity-onset diabetes of the young). Despite structural similarity between HNF-1 and -1 , HNF-1 mutation carriers have hyperinsulinemia, whereas HNF-1 mutation carriers have normal or reduced insulin concentrations. We examined whether HNF-1 mutation carriers are insulin resistant. The...
متن کاملTissue-specific expression of the gene encoding hepatocyte nuclear factor 1 may involve hepatocyte nuclear factor 4.
Hepatocyte nuclear factor 1 (HNF-1) is a transcriptional regulatory protein possibly involved in the activation of many liver-specifically expressed genes. HNF-1 mRNA is restricted to a small number of tissues, suggesting that the HNF-1 gene itself is regulated at the transcriptional level. We have isolated and characterized the promoter region of this gene and have determined its transcription...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.032854