- ►diabetesjournals.org K Shimomura, CAJ Girard, P Proks, J Nazim, JD Lippiat … - Diabetes, 2006 - Am Diabetes Assoc Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the
ATP-sensitive K + channel (K ATP channel), are a common cause of neonatal diabetes. We identified
a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) ... Cited by 21 - Related articles - BL Direct - All 6 versions
P Proks, C Girard, H Bævre, PR Njølstad, FM Ashcroft - Diabetes, 2006 - Am Diabetes Assoc Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the
ATP-sensitive K + channel (K ATP channel), cause neonatal diabetes. To date, all mutations
increase whole-cell K ATP channel currents by reducing channel inhibition by MgATP. ... Cited by 16 - Related articles - BL Direct - All 5 versions
R Masia, JC Koster, S Tumini, F Chiarelli, C Colombo, … - Diabetes, 2007 - Am Diabetes Assoc Mutations in the pancreatic ATP-sensitive K + channel (K ATP channel) cause permanent neonatal
diabetes mellitus (PNDM) in humans. All of the K ATP channel mutations examined result in
decreased ATP inhibition, which in turn is predicted to suppress insulin secretion. Here ... Cited by 17 - Related articles - BL Direct - All 6 versions
P Tammaro, C Girard, J Molnes, PR Njølstad, … - The EMBO …, 2005 - pubmedcentral.nih.gov ATP-sensitive K + (K ATP ) channels, comprised of pore-forming Kir6.2 and regulatory SUR1
subunits, play a critical role in regulating insulin secretion. Binding of ATP to Kir6.2 inhibits, whereas
interaction of MgATP with SUR1 activates, K ATP channels. We tested the functional ... Cited by 35 - Related articles - All 7 versions
- ►oxfordjournals.org P Proks, C Girard, FM Ashcroft - Human Molecular Genetics, 2005 - Oxford Univ Press Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the
pore-forming subunit of the ATP-sensitive potassium (K ATP ) channel, cause permanent neonatal
diabetes either alone (R201C, R201H) or in association with developmental delay, ... Cited by 33 - Related articles - BL Direct - All 6 versions
CAJ Girard, K Shimomura, P Proks, N Absalom, L … - Pflügers Archiv European …, 2006 - Springer Abstract ATP-sensitive potassium (K ATP ) channels, com- posed of pore-forming Kir6.2 and
regulatory sulphonylurea receptor (SUR) subunits, play an essential role in insulin secretion
from pancreatic beta cells. Binding of ATP to Kir6.2 inhibits, whereas interaction of Mg- ... Cited by 20 - Related articles - BL Direct - All 4 versions
- ►endojournals.org T Yorifuji, K Nagashima, K Kurokawa, M Kawai, … - Journal of Clinical …, 2005 - Endocrine Soc Context: Known genes in maturity-onset diabetes of the young account for only a fraction of families
with dominantly inherited diabetes in Japan. There should be as-yet-unidentified genes that
account for the rest of the patients. ... Objective: To identify and characterize the mutation ... Cited by 40 - Related articles - All 6 versions
P Proks, C Girard, S Haider, AL Gloyn, AT … - EMBO …, 2005 - pubmedcentral.nih.gov Inwardly rectifying potassium (Kir) channels control cell membrane K + fluxes and electrical signalling
in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming
subunit of the ATP-sensitive (K ATP ) channel, cause permanent neonatal diabetes ... Cited by 59 - Related articles - BL Direct - All 4 versions
P Tammaro, P Proks, FM Ashcroft - The Journal of Physiology, 2006 - Physiological Soc ATP-sensitive K + (K ATP ) channels are hetero-octamers of inwardly rectifying K + channel
(Kir6.2) and sulphonylurea receptor subunits (SUR1 in pancreatic β-cells, SUR2A in heart). Heterozygous
gain-of-function mutations in Kir6.2 cause neonatal diabetes, which may be accompanied ... Cited by 15 - Related articles - BL Direct - All 9 versions
- ►shouxi.net AI Tarasov, HJ Welters, S Senkel, GU Ryffel, AT … - Diabetes, 2006 - Am Diabetes Assoc ATP-sensitive K + channels (K ATP channels) couple ß-cell metabolism to electrical activity and
thereby play an essential role in the control of insulin secretion. Gain-of-function mutations in
Kir6.2 (KCNJ11), the pore-forming subunit of this channel, cause neonatal diabetes. We ... Cited by 17 - Related articles - BL Direct - All 5 versions
