- ►nih.gov EL Edghill, C Bingham, S Ellard, AT … - 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%) ... Cited by 77 - Related articles - BL Direct - All 10 versions
- ►diabetesjournals.org C Bellanné-Chantelot, S Clauin, D Chauveau, … - 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 ... Cited by 59 - Related articles - BL Direct - All 4 versions
- ►pnas.org C Haumaitre, E Barbacci, M Jenny, MO Ott, G … - Proceedings of the National Academy of Sciences, 2005 - National Acad Sciences Heterozygous mutations in the human POU-homeobox TCF2 (vHNF1, HNF1β) gene are
associated with maturity-onset diabetes of the young, type 5, and abnormal
urogenital tract development. Recently, pancreas atrophies have been ... Cited by 58 - Related articles - All 9 versions
K Fukui, Q Yang, Y Cao, N Takahashi, H … - Cell Metabolism, 2005 - Elsevier Defective glucose-stimulated insulin secretion is the main cause of
hyperglycemia in type 2 diabetes mellitus. Mutations in HNF-1α cause a
monogenic form of type 2 diabetes, maturity-onset diabetes of the young ... Cited by 50 - Related articles - All 10 versions
- ►asnjournals.org T Ulinski, S Lescure, S Beaufils, V Guigonis … - Journal of the American Society of Nephrology, 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 ... Cited by 46 - Related articles - BL Direct - All 5 versions
- ►asnjournals.org S Weber, V Moriniere, T Knuppel, M Charbit, … - Journal of the American Society of Nephrology, 2006 - Am Soc Nephrol Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small
kidney size, and disorganized renal tissue. A hereditary basis has been
established for a subset of affected patients, suggesting a major role of ... Cited by 46 - Related articles - BL Direct - All 7 versions
AS Slingerland, AT Hattersley - Annals of Medicine, 2005 - informahealthcare.com Abstract Permanent neonatal diabetes (PNDM) is diagnosed in the first three
months of life and is a major management problem as patients require lifelong
insulin injections. Recently, activating mutations in the KCNJ11 gene which ... Cited by 43 - Related articles - All 7 versions
- ►oxfordjournals.org S Rebouissou, V Vasiliu, C Thomas, C … - Human Molecular Genetics, 2005 - Oxford Univ Press Mutations in one copy of the hepatocyte nuclear factors (HNF) 1 and 1ß
homeodomain containing transcription factors predispose the carrier to
maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. ... Cited by 42 - Related articles - All 5 versions
AT Hattersley, ER Pearson - Endocrinology, 2006 - Endocrine Soc Defining the molecular genetics of diabetes gives new insight into the
underlying etiology and so should help improve treatment. The genetic etiology
is now known for most patients with ß-cell monogenic diabetes, allowing ... Cited by 42 - Related articles - BL Direct - All 8 versions
