- ►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 78 - Related articles - BL Direct - All 10 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 43 - Related articles - BL Direct - All 8 versions
KR Owen, MI McCarthy - Current opinion in genetics & development, 2007 - Elsevier Identification and characterization of genetic variants that either cause or
predispose to diabetes are a major focus of biomedical research. As of early
2007, the molecular basis of most forms of monogenic diabetes resulting ... Cited by 36 - Related articles - All 4 versions
R Murphy, S Ellard, AT Hattersley - Nature Clinical Practice Endocrinology & Metabolism, 2008 - nature.com Sian Ellard is Professor of Human Molecular Genetics, Peninsula Medical School,
Exeter, UK. Following research training at the University of Swansea (UK), she
set up the Molecular Genetics Laboratory in Exeter with Professor Andrew ... Cited by 31 - Related articles - BL Direct - All 6 versions
LW Harries, C Bingham, C Bellanne-Chantelot, … - Human genetics, 2005 - Springer Abstract The nonsense-mediated decay (NMD) pathway is an mRNA surveillance
mechanism that detects and degrades transcripts containing premature termination
codons. The position of a truncating mutation can govern the resulting ... Cited by 22 - Related articles - BL Direct - All 3 versions
UK Exeter, PS Klingensmith - Pediatric diabetes, 2006 - dr-agha.com Authors: Andrew Hattersley, Institute of Biomedical and Clinical Sciences,
Peninsula Medical School, Exeter, UK Jan Bruining, Sophia Children's Hospital,
Rotterdam, the Netherlands Julian Shield, Department of Child Health, ... Cited by 22 - Related articles - View as HTML - BL Direct - All 6 versions
A Brackenridge, ER Pearson, F Shojaee- … - Diabetes, 2006 - Am Diabetes Assoc Heterozygous mutations in the transcription factors hepatocyte nuclear factor
(HNF)-1α and -1β result in MODY (maturity-onset diabetes of the young).
Despite structural similarity between HNF-1α and -1β, HNF-1β mutation ... Cited by 16 - Related articles - BL Direct - All 5 versions
- ►nih.gov AS Slingerland - Reviews in Endocrine & Metabolic Disorders, 2006 - Springer Abstract Monogenic diabetes results from one or more mutations in a single gene
which might hence be rare but has great impact leading to diabetes at a very
young age. It has resulted in great challenges for researchers elucidating ... Cited by 12 - Related articles - BL Direct - All 6 versions
- ►endocrinology-journals.org HJ Welters, S Senkel, L Klein-Hitpass, S … - Journal of Endocrinology, 2006 - Soc Endocrinology Mutations in the gene encoding hepatocyte nuclear factor (HNF)1ß result in
maturity-onset diabetes of the young-(MODY)5, by impairing insulin secretory
responses and, possibly, by reducing ß-cell mass. The functional role of ... Cited by 10 - Related articles - BL Direct - All 3 versions
- ►diabetesjournals.org MI McCarthy, AT Hattersley - Diabetes, 2008 - Am Diabetes Assoc Genetic factors for many decades have been known to play a critical role in the
etiology of diabetes, but it has been only recently that the specific genes have
been identified. The identification of the underlying molecular genetics ... Cited by 9 - Related articles - All 4 versions
