- ►diabetesjournals.org LW Harries, AT Hattersley, S Ellard - Diabetes, 2004 - Am Diabetes Assoc Mutations in the hepatocyte nuclear factor-1 (HNF-1a) gene cause maturity-onset
diabetes of the young (MODY). Approximately 30% of these mutations generate mRNA
transcripts harboring premature termination codons (PTCs). Degradation of ... Cited by 29 - Related articles - BL Direct - All 4 versions
M Bulman, L Harries, T Hansen, M Shepherd, W … - Diabetologia, 2002 - Springer Aims/hypothesis. Mutations in the HNF-1α gene re- sult in maturity-onset
diabetes of the young (MODY); an early-onset, dominantly inherited form of
diabetes caused by pancreatic β-cell dysfunction. Splice site mutations ... Cited by 25 - Related articles - BL Direct - All 3 versions
- ►oxfordjournals.org LW Harries, S Ellard, A Stride… - Human Molecular Genetics, 2006 - Oxford Univ Press The generation of multiple transcripts by mRNA processing has the potential to
moderate differences in gene expression both between tissues and at different
stages of development. Where gene function is compromised by mutation, the ... Cited by 20 - Related articles - BL Direct - All 6 versions
H Thomas, B Badenberg, M Bulman, I Lemm, J … - Biological chemistry, 2002 - reference-global.com Maturity onset diabetes of the young (MODY) is a mono- genic form of diabetes
mellitus characterized by autoso- mal dominant inheritance, onset usually before
the age of 25 years and a primary defect in glucose-stimulated in- sulin ... Cited by 15 - Related articles - BL Direct - All 4 versions
- ►jbc.org M Vaxillaire, A Abderrahmani, P Boutin, B … - Journal of Biological Chemistry, 1999 - ASBMB Hepatocyte nuclear factor 1 (HNF1 ) is an atypical dimeric
homeodomain-containing protein that is expressed in liver, intestine, stomach,
kidney, and pancreas. Mutations in the HNF1 gene are associated with an ... Cited by 64 - Related articles - All 3 versions
LW Harries, S Ellard, RWA Jones, AT … - 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 ... Cited by 24 - Related articles - BL Direct - All 5 versions
S Ellard, K Colclough - Human mutation, 2006 - interscience.wiley.com Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes
mellitus characterized by autosomal dominant inheritance, early age of onset
(often <25 years of age), and pancreatic -cell dysfunction. MODY is both ... Cited by 32 - Related articles - BL Direct - All 4 versions
S Ellard, K Thomas, EL Edghill, M Owens, L … - Diabetologia, 2007 - Springer Page 1. SHORT COMMUNICATION Partial and whole gene deletion mutations of the
GCK and HNF1A genes in maturity-onset diabetes of the young ... Cited by 19 - Related articles - BL Direct - All 2 versions
- ►endojournals.org BN Cockburn, G Bermano, LLG Boodram, S … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc This study investigated the prevalence of insulin promoter factor-1(IPF-1)
mutations in familial early-onset diabetes mellitus in Trinidad. We screened 264
unrelated subjects with type 2 diabetes diagnosed before 40 yr of age and a ... Cited by 13 - Related articles - BL Direct - All 6 versions
- ►diabetesjournals.org A Stride, S Ellard, P Clark, L Shakespeare, … - Diabetes care, 2005 - Am Diabetes Assoc RESULTS—HNF-1α mutations were found in 20 offspring, 7 with diabetes and 13
without diabetes. The 13 nondiabetic mutation carriers were compared with 27
family control subjects, who were matched for age, sex, and BMI. There was ... Cited by 21 - Related articles - BL Direct - All 5 versions
