- ►nih.gov S Ellard, SE Flanagan, CA Girard, AM Patch, … - The American Journal of Human Genetics, 2007 - Elsevier Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming
Kir6.2 subunit of the pancreatic beta cell K ATP channel are the most common
cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a ... Cited by 28 - Related articles - BL Direct - All 9 versions
- ►diabetesjournals.org M Rafiq, SE Flanagan, AM Patch, BM Shields, … - Diabetes Care, 2008 - Am Diabetes Assoc OBJECTIVE—Neonatal diabetes can result from mutations in the Kir6.2 or
sulfonylurea receptor 1 (SUR1) subunits of the ATP-sensitive K + channel.
Transfer from insulin to oral sulfonylureas in patients with neonatal ... Cited by 19 - Related articles - BL Direct - All 5 versions
- ►oxfordjournals.org P Proks, K Shimomura, TJ Craig, CAJ Girard, … - Human Molecular Genetics, 2007 - Oxford Univ Press Activating mutations in the genes encoding the ATP-sensitive potassium (K ATP )
channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. Here,
we analyse the molecular mechanism of action of the heterozygous mutation ... Cited by 13 - Related articles - BL Direct - All 4 versions
AM Patch, SE Flanagan, C Boustred, AT … - Diabetes Obes Metab, 2007 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 9 - Related articles - All 3 versions
S Sattiraju, S Reyes, GC Kane, A Terzic - Clinical pharmacology and therapeutics, 2008 - pubmedcentral.nih.gov Pharmacogenomics has established genetic variations in drug-metabolizing
pathways, transporters, receptors, and signaling cascades as critical in
defining pharmacokinetic and/or pharmacodynamic outcomes. 3 A therapeutic ... Cited by 8 - Related articles - All 4 versions
- ►diabetesjournals.org JPH Shield, SE Flanagan, DJ Mackay, LW … - Diabetes, 2008 - Am Diabetes Assoc OBJECTIVE— Activating mutations in the KCNJ11 and ABCC8 genes encoding the
Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K + channel are the
most common cause of permanent neonatal diabetes. In contrast to KCNJ11, ... Cited by 6 - Related articles - BL Direct - All 5 versions
SE Flanagan, S Clauin, C Bellanné-Chantelot, … - Hum Mutat, 2009 - interscience.wiley.com The beta-cell ATP-sensitive potassium (K ATP ) channel is a key component of
stimulus-secretion coupling in the pancreatic beta-cell. The channel couples
metabolism to membrane electrical events bringing about insulin secretion. ... Cited by 5 - Related articles - All 3 versions
M Vaxillaire, P Froguel - Epidemiology of Pediatric and Adolescent Diabetes, 2008 - books.google.com BT Monogenic Forms of Diabetes in the Young Martine Vaxillaire CNRS UMR 8090,
Institute of Biology and Pasteur Institute, Lille, France Philippe Froguel
Section of Genomic Medicine, Imperial College London, London, UK ... Cited by 1 - Related articles
- ►diabetesjournals.org [PDF] AI Tarasov, T Nicolson, JP Riveline, TK … - Diabetes, 2008 - Am Diabetes Assoc Page 1. A rare mutation in ABCC8/SUR1 leading to altered K ATP channel activity
and β-cell glucose sensing is associated with type ... Cited by 1 - Related articles - All 2 versions
AI Tarasov, TJ Nicolson, JP Riveline, TK … - Diabetes, 2008 - Am Diabetes Assoc RESULTS— A mutation in ABCC8/SUR1, leading to a Y356C substitution in the
seventh membrane-spanning α-helix, was observed in a patient diagnosed with
hyperglycemia at age 39 years and in two adult offspring with impaired ... Cited by 1 - Related articles - All 4 versions
