- ►diabetesjournals.org C Bellanné-Chantelot, S Clauin, D Chauveau, P Collin, … - Diabetes, 2005 - Am Diabetes Assoc Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene encoding
the transcription factor hepatocyte nuclear factor-1β. However, in 60% of the patients with a phenotype
suggesting MODY5, no point mutation is detected in TCF2. We have hypothesized that ... Cited by 59 - Related articles - BL Direct - All 4 versions
- ►nih.gov EL Edghill, C Bingham, S Ellard, AT Hattersley - British Medical Journal, 2006 - jmg.bmj.com Results: Twenty three different heterozygous HNF-1ß mutations were identified in 23/160 subjects
(14%), including 10 novel mutations (V61G, V110G, S148L, K156E, Q176X, R276Q,
S281fsinsC, R295P, H324fsdelCA, Q470X). Seven (30%) cases were proven to be due to ... Cited by 78 - Related articles - BL Direct - All 10 versions
- ►asnjournals.org T Ulinski, S Lescure, S Beaufils, V Guigonis, S … - Journal of the American …, 2006 - Am Soc Nephrol The hepatocyte nuclear factor-1 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 ... Cited by 46 - Related articles - BL Direct - All 5 versions
C Bellannee-Chantelot, S Clauin, D Chauveau, P … - 糖尿病学杂志, 2005 - journal.shouxi.net Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene encoding
the transcription factor hepatocyte nuclear factor-1. However, in 60% of the patients with a phenotype
suggesting MODY5, no point mutation is detected in TCF2. We have hypothesized that ... Related articles - Cached
- ►annals.org [PDF] C Bellanne-Chantelot, D Chauveau, JF … - Annals of internal …, 2004 - Am Coll Physicians Setting: 2 departments of diabetes, 1 department of internal medicine, and 1 department of
nephrology. Participants: 8 probands with diabetes diagnosed before 40 years of age and nondiabetic
kidney disease who were selected independent of their family history of diabetes, and 5 ... Cited by 103 - Related articles - BL Direct - All 5 versions
- ►oxfordjournals.org C Bingham, AT Hattersley - Nephrology Dialysis Transplantation, 2004 - ERA-EDTA Mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF)-1ß have
recently been described in association with a variety of abnormalities of renal development. The
most consistent clinical feature is the presence of renal cysts and most affected subjects ... Cited by 42 - Related articles - BL Direct - All 4 versions
ER Pearson, MK Badman, CR Lockwood, PM Clark … - Diabetes Care, 2004 - Am Diabetes Assoc OBJECTIVE—Mutations in the highly homologous transcription factors hepatocyte nuclear factor
(HNF)-1α and -1β cause maturity-onset diabetes of the young types 3 and 5, respectively. Diabetes
due to HNF-1α mutations is well characterized. However, physiological assessment of the ... Cited by 34 - Related articles - BL Direct - All 6 versions
LW Harries, S Ellard, RWA Jones, AT Hattersley, C … - Diabetologia, 2004 - Springer Aims/hypothesis. Mutations in the hepatocyte nuclear factor-1 beta (HNF-1β) gene result in disorders
of re- nal development, typically involving renal cysts and early-onset diabetes (the RCAD
syndrome/ MODY5). Sixteen mutations have been reported, including three splicing ... Cited by 24 - Related articles - BL Direct - All 5 versions
- ►oxfordjournals.org C Haumaitre, M Fabre, S Cormier, C … - Human molecular …, 2006 - Oxford Univ Press Heterozygous mutations in the HNF1ß/vHNF1/TCF2 gene cause maturity-onset diabetes of the
young (MODY5), associated with severe renal disease and abnormal genital tract. Here, we
characterize two fetuses, a 27-week male and a 31.5-week female, carrying novel ... Cited by 29 - Related articles - BL Direct - All 6 versions
