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
K Shimomura, F Horster, H de Wet, SE Flanagan, S … - Neurology, 2007 - AAN Enterprises Objectives: Activating mutations in the human KCNJ11 gene, encoding the pore-forming subunit
(Kir6.2) of the ATP-sensitive potassium (K ATP ) channel, are one cause of neonatal diabetes
mellitus. In a few patients, KCNJ11 mutations cause a triad of developmental delay, ... Cited by 15 - Related articles - All 4 versions
- ►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
AS Slingerland, R Nuboer, M Hadders-Algra, AT … - Diabetologia, 2006 - Springer Abstract Aims/hypothesis Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit
of the K ATP channels in pancreatic beta cells are a common cause of neonatal diabetes.
One-third of patients also have developmental delay, which probably results from mutated ... Cited by 23 - Related articles - All 5 versions
- ►endojournals.org JC Koster, F Cadario, C Peruzzi, C Colombo, … - Journal of Clinical …, 2008 - Endocrine Soc Context: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium channel (K
ATP ) underlie neonatal diabetes mellitus. In severe cases, Kir6.2 mutations underlie developmental
delay, epilepsy, and neonatal diabetes (DEND). All Kir6.2 mutations examined decrease ... Cited by 12 - Related articles - BL Direct - All 5 versions
- ►angrylapdog.com S Suzuki, Y Makita, T Mukai, K … - Journal of …, 2007 - jcem.endojournals.org.p. … Results: A molecular basis for NDM was found in 23 patients: 6q24 in eleven, KCNJ11 in
nine, ABCC8 in two, and FOXP3 in one. All the patients with the 6q24 abnormality and two patients
with the KCNJ11 mutation proved to be TNDM. Five mutations were novel: two (p.A174G ... Cited by 8 - Related articles - BL Direct - All 4 versions
N Bahi-Buisson, M Eisermann, S Nivot, C … - Journal of Child …, 2007 - jcn.sagepub.com A 5-month-old girl was transferred to our institution after having presented to her local hospital
with infantile spasms, developmental delay, early onset diabetes, and dysmorphic features. Her
parents were nonconsanguineous. At 28 weeks gestation, severe intrauterine growth ... Cited by 7 - Related articles - BL Direct - All 2 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
- ►nih.gov S Ellard, SE Flanagan, CA Girard, AM Patch, LW … - The American Journal of …, 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 heterozygous activating mutation in the ... Cited by 28 - Related articles - BL Direct - All 9 versions
AI Tarasov, CA Girard, B Larkin, P Tammaro, … - Diabetes Obes …, 2007 - interscience.wiley.com Heterozygous activating mutations in Kir6.2 (KCNJ11), the pore-forming subunit of the adenosine
triphosphate (ATP)-sensitive potassium (K ATP ) channel, are a common cause of neonatal diabetes
(ND). We assessed the functional effects of two Kir6.2 mutations associated with ND: ... Cited by 2 - Related articles - All 2 versions
