- ►shouxi.net SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL … - Diabetes, 2007 - Am Diabetes Assoc Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission
in infancy or early childhood. For 50% of patients, their diabetes will relapse in later life. The
majority of cases result from anomalies of the imprinted region on chromosome 6q24, and ... Cited by 50 - Related articles - BL Direct - All 8 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
- ►diabetesjournals.org M Vaxillaire, A Dechaume, K Busiah, H Cavé, S Pereira … - Diabetes, 2007 - Am Diabetes Assoc Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory
subunit of the pancreatic islet ATP-sensitive K + channel (K ATP channel) cause both permanent
and transient neonatal diabetes. Recently, we have described the novel mechanism ... Cited by 24 - Related articles - BL Direct - All 6 versions
- ►endojournals.org J Stanik, D Gasperikova, M Paskova, L Barak, J … - Journal of Clinical …, 2007 - Endocrine Soc Context: Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic ß-cell K ATP channel
have recently been shown to be the most common cause of permanent neonatal diabetes mellitus
(PNDM). Information regarding the frequency of PNDM has been based mainly on ... Cited by 30 - Related articles - BL Direct - All 4 versions
SE Flanagan, EL Edghill, AL Gloyn, S Ellard, AT … - Diabetologia, 2006 - Springer Mutations in KCNJ11, which encodes Kir6.2, are a common cause ... Received: 3 November
2005 / Accepted: 28 February 2006 / Published online: 12 April 2006 # Springer-Verlag 2006 ... Abstract Aims/hypothesis: Heterozygous activating mu- tations in KCNJ11, which ... Cited by 75 - Related articles - BL Direct - All 4 versions
AM Patch, SE Flanagan, C Boustred, AT … - Diabetes Obes …, 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 latest version of Microsoft or Mozilla web browser to ... Cited by 9 - Related articles - All 3 versions
- ►shouxi.net AP Babenko, M Polak, H Cave, K Busiah, P … - The New England …, 2006 - nejm.highwire.org Background The ATP-sensitive potassium (K ATP ) channel, composed of the beta-cell proteins
sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6.2, is a key
regulator of insulin release. It is inhibited by the binding of adenine nucleotides to subunit ... Cited by 158 - Related articles - BL Direct - All 12 versions
EL Edghill, SE Flanagan, AM Patch, C Boustred, A … - Diabetes, 2008 - Am Diabetes Assoc RESULTS— We identified heterozygous INS mutations in 33 of 141 probands diagnosed at
<6 months, 2 of 86 between 6 and 12 months, and none of 58 between 12 and 24 months of
age. Three known mutations (A24D, F48C, and R89C) account for 46% of cases. There ... Cited by 30 - Related articles - BL Direct - All 5 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
- ►oxfordjournals.org AL Gloyn, F Reimann, C Girard, EL Edghill, P … - Human molecular …, 2005 - Oxford Univ Press Neonatal diabetes can either remit and hence be transient or else may be permanent. These
two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest
cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes ... Cited by 89 - Related articles - All 7 versions
