M Vaxillaire, C Populaire, K Busiah, H Cavé, … - DIABETES-NEW YORK-, 2004 - Am Diabetes Assoc Page 1. Brief Genetics Report Kir6.2 Mutations Are a Common Cause of Permanent
Neonatal Diabetes in a Large Cohort of French Patients ... Cited by 102 - Related articles - BL Direct - All 4 versions
JV Sagen, H Ræder, E Hathout, N Shehadeh, K … - Diabetes, 2004 - Am Diabetes Assoc Permanent neonatal diabetes (PND) can be caused by mutations in the
transcription factors insulin promoter factor (IPF)-1, eukaryotic translation
initiation factor-2α kinase 3 (EIF2AK3), and forkhead box-P3 and in key ... Cited by 175 - Related articles - BL Direct - All 5 versions
W Trust - Human mutation - interscience.wiley.com Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by
severe hyperglycemia constantly requiring insulin treatment from its onset.
Complete deficiency of glucokinase (GCK) can cause PNDM; however, the ... Cited by 70 - Related articles - All 4 versions
- ►nih.gov P Proks, JF Antcliff, J Lippiat, AL Gloyn, AT … - Proceedings of the National Academy of Sciences, 2004 - National Acad Sciences Inwardly rectifying potassium channels (Kir channels) control cell membrane K +
fluxes and electrical signaling in diverse cell types. Heterozygous mutations in
the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ... Cited by 115 - Related articles - All 11 versions
A Zung, B Glaser, R Nimri, Z Zadik - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes
characterized by insulin-requiring hyperglycemia that is diagnosed within the
first months of life. Recently, activating mutations in the gene encoding ... Cited by 94 - Related articles - BL Direct - All 5 versions
- ►oxfordjournals.org AL Gloyn, F Reimann, C Girard, EL Edghill, P … - Human molecular genetics, 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 ... Cited by 88 - Related articles - All 7 versions
P Proks, C Girard, S Haider, AL Gloyn, AT … - EMBO reports, 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 ... Cited by 59 - Related articles - BL Direct - All 4 versions
SE Flanagan, EL Edghill, AL Gloyn, S Ellard, … - 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 ... Cited by 74 - Related articles - BL Direct - All 4 versions
- ►endojournals.org AL Gloyn, EA Cummings, EL Edghill, LW Harries … - Journal of Clinical Endocrinology & Metabolism, 2004 - Endocrine Soc Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the
ß-cell ATP-sensitive potassium channel have recently been shown to be a common
cause of permanent neonatal diabetes. In 80% of probands, these are ... Cited by 42 - Related articles - BL Direct - All 7 versions
- ►endojournals.org T Yorifuji, K Nagashima, K Kurokawa, M … - Journal of Clinical Endocrinology & Metabolism, 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. Cited by 40 - Related articles - All 6 versions
