HNF1B

HNF1B

A gene on 17q12 that encodes a transcription factor that binds an inverted palindromic sequence of DNA.

Molecular pathology
Defects in HNF1B are a cause of maturity-onset diabetes of the young type 5 (MODY5, or renal cysts and diabetes syndrome) and contribute to the development of type-2 diabetes and prostate cancer hereditary type 11.
References in periodicals archive ?
Other genes associated with MODY are infrequently detected: HNF1B, IPF, NEUROD, PDX1, KLF11, CEL, PAX4, BLK, ABCC8 and KCNJ11 (3).
Una minoria de estos pacientes presentan otras mutaciones en los genes de factores de trascripcion como HNF1B o en el gen INS.
PNDM is a genetically heterogeneous disorder due to mutations in 23 different genes described to date: KCNJ11, ABCC8, FOXP3, GCK, PDX1, pancreas-specific transcription factor 1A (PTF1A), EIF2AK3, SLC2A2, GATA6, GATA4, SLC19A2, WFS1, NEUROD1, NEUROG3, RFX6, LRBA, NKX2-2, MNX1, IER3IP1, INS, S T A T 3 , GLIS3 and HNF1B (3,4,5,6,7,8,9).
* MODY 5 [caused by mutations in hepatocyte nuclear factor 1 homeobox B (HNF1B)] can adversely affect development of cells in the uterus, kidneys, and kidney tracts, causing diabetes, renal cysts, and gout.
Although genetic testing for UMOD, REN, and HNF1B mutations is well established, MUC1 genetic testing remains challenging [11].
However, so far the only example of genetic predisposition to GDM is represented by maturity onset diabetes of the young (MODY), a clinically heterogeneous autosomal dominant monogenic disease, accounting for up to 5% of diabetes and due to mutations in different genes such as HNF4A, GCK, HNF1A, IPF1, HNF1B, and NEUROD1.
Dosage analysis of GCK, HNF4A, and HNF1B by MLPA using MRC-Holland kit P241-D1 was performed.
The Scorecard panel initially examines the gene expression of undifferentiated and EB differentiated iPSCs for certain pluripotent (CXCL5, Nanog, Pouf51, Sox2, etc.), ectodermal (DRD4, PAX3, Sox1, Wnt1, etc.), mesodermal (HAND1, ESM1, BMP2, ODAM, etc.), and endodermal (FoxA2, GATA4, HNF1B, Sox17, etc.) markers.
Overexpression of miR-802 in mice causes impaired glucose tolerance and attenuates insulin sensitivity by suppressing its target gene HNF1 Homeobox B (Hnf1b).
Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1b mutations?
Gloyn, "Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes," PLoS ONE, vol.