We conclude there is no direct relationship between horseshoe kidney in TS and mutation or polymorphism of HNF-1beta gene, but we speculate that target gene(s) of HNF-1beta, likely mapped on the X chromosome, is/are responsible of the horseshoe kidney formation in TS.D'Amato Ed'Annunzio ...
Results. We report a fourth mutation of the intron 2 splice donor site, IVS2nt 2insT. Sequence analysis of ectopic HNF-1β transcripts showed that both IVS2nt 2insT and IVS2nt 1G>T result in the deletion of exon 2 and are predicted to result in premature termi...
Human mutationEk J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O (2001) Studies of the variability of the hepatocyte nuclear factor-1β (HNF-1β / TCF2 ) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 ...
Diabetes and renal cysts due to a heterozygous whole gene mutation of HNF-1beta (MODY5)Raubenheimer, Peter JPeter, JonathanEllard, Sian
MutationAims: Precise diagnosis of maturity-onset diabetes of the young (MODY) has proven valuable for understanding mechanism of diabetes and selecting optimal therapy. A proband and her mother with diabetic kidney disease (DKD) were studied to investigate potential genes responsible for diabetes and...
A Novel Mutation of HNF1beta Gene in MODY5 with Multiple Renal Cysts and Pancreas Hypogenesis:a Case of Specific Type Diabetes ReportYou Lv
HNF1B also can regulate renal tubulogenesis by controlling expression of SOC3. Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY5 (Maturity-Onset of Diabetes, Type 5).Catalog Number: PB
2000. Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction. EMBO J. 19 : 4257-4264 CrossRef , Medline .Wang H, Antinozzi PA, Hagenfeldt KA, Maechler P, Wollheim CB: Molec- ular targets of a human HNF1 alpha mutation responsible for pancreatic...
Hepatocyte nuclear factor 1beta (HNF1β, TCF2) is a tissue-specific transcription factor whose mutation in humans leads to renal cysts, genital malformations, pancreas atrophy and maturity onset diabetes of the young (MODY5). Furthermore, HNF1β overexpression has been observed in clear cell ...
We present a case of RCAD syndrome with a previously unreported mutation. A 49‐year‐old man with diabetes mellitus was admitted with worsening chronic kidney disease requiring haemodialysis. He developed recurrent, unexplained hypoglycaemia despite discontinuing insulin, making the diagnosis of type 1 ...