Hepatocyte Nuclear Factor 1-beta
The art of magnesium transport.
Nijmegen, Netherlands. In Magnes Res, Sep 2015
Indeed, patients with PCBD1 mutations were shown to suffer hypomagnesemia and MODY5-like diabetes.
HNF1B-associated clinical phenotypes: the kidney and beyond.
London, United Kingdom. In Pediatr Nephrol, Aug 2015
HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5.
The Association of Type 2 Diabetes Loci Identified in Genome-Wide Association Studies with Metabolic Syndrome and Its Components in a Chinese Population with Type 2 Diabetes.
Beijing, China. In Plos One, 2014
Genetic variants of WFS1, CDKAL1, CDKN2BAS, TCF7L2, HHEX, KCNQ1, TSPAN8/LGR5, FTO, and TCF2 were associated with the risk for T2D with MetS, as well as the risk for development of T2D with at least one of the MetS components (P < 0.05).
Genetic basis of prune belly syndrome: screening for HNF1β gene.
Dallas, United States. In J Urol, 2012
One genomic HNF1beta mutation was detected in 3% of patients with prune belly syndrome but found to be functionally normal. Thus, functionally significant HNF1beta mutations are uncommon in prune belly syndrome, despite case reports of HNF1beta deletions
Genetic control of single lumen formation in the zebrafish gut.
San Francisco, United States. In Nat Cell Biol, 2007
Data show that zebrafish mutants for Tcf2 fail to specify a single lumen in their gut tube and instead develop multiple lumens, and show that Tcf2 controls single lumen formation by regulating claudin15 and Na+/K+-ATPase expression.