De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol 2002;17(12):1021-6.Mache CJ, Preisegger K-H, Kopp S, Ratschek M, Ring E.. De novo HNF-1β gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol. 2002...
De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol 2002; 17: 1021-1026.Mache CJ,Preisegger KH,Kopp S,Ratschek M Ring E. De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease[J].Pediatric Nephrology,...
Human MutationEllard S. Hepatocyte nuclear factor 1α (HNF-1α) mutations in maturity-onset diabetes of the young. Hum. Mutat. 16: 377-385, 2000.Ellard S. Hepatocyte nuclear factor alpha (HNF)-1a mutations in ma- turity-onset diabetes of the young. Human Mutation 2000; 16: 377 ± ...
TCF1.HNF1B functions as both a classic transcriptional activator and as a bookmarking factor that marks target genes for rapid transcriptional reactivation after mitosis.HNF1B also can regulate renal tubulogenesis by controlling expression of SOC3.Mutation of HNF1B that disrupts normal function has...
The identification of an HNF-1α gene mutation in a patient with type 2 diabetes confirms the diagnosis of MODY and has important implications for clinical management. Hum Mutat 16:377–385, 2000. 2000 Wiley-Liss, Inc. 展开 关键词: maturity‐onset diabetes of the young MODY hepatocyte ...
Finally, the PDX1 protein forms complex with PBX1 and MEIS2b in the pancreatic cells and further enhances the ELA1 protein transcription, and in the adult, a stage is required for maintaining the hormone production in the beta cells. Thus, a mutation in HNF1A could hinder the uptake of ...
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. These studies indicate that HNF-1β plays a central role in normal kidney development and pancreatic β-cell function, and suggest that one mechanism by wh... TG Bell,PJ...
HNF1α-mutated HCA (H-HCA) are phenotypically characterized by a marked steatosis [7–9]. In 90% of the cases, H-HCA are sporadic lesions displaying somatic mutations. However, in rare families with an inherited mutation in one allele of HNF1A, MODY3 (Maturity Onset Diabetes of the Young...
this gene mutation are diverse and complex, and the phenotypes may be different within the same family or in the same mutation carrier.Renal abnormalities, especially cystic kidney disease is the most consistent clinical manifestations caused by the HNF1 beta gene mutations. HNF1 beta ...
Mutation of TCF1 encoding hepatocyte nuclear factor 1alpha in gynecological cancer. TCF1 (transcription factor 1) encoding hepatocyte nuclear factor 1α (HNF1α) is mutated in 50% of liver cell adenomas, a be...