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 components of insulin secretion: glucokinase (GCK) and the ... Cited by 175 - Related articles - BL Direct - All 5 versions
A Zung, B Glaser, R Nimri, Z Zadik - Journal of Clinical Endocrinology & …, 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 the ATP-sensitive potassium-channel subunit Kir6.2 were ... Cited by 94 - Related articles - BL Direct - All 5 versions
M Vaxillaire, C Populaire, K Busiah, H Cavé, … - DIABETES-NEW …, 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 Martine Vaxillaire, 1 Céline
Populaire, 1 Kanetee Busiah, 2 Héle`ne Cavé, 3 Anna L. Gloyn, 4 ... Cited by 102 - Related articles - BL Direct - All 4 versions
- ►whiterose.ac.uk [PDF] AL Gloyn, ER Pearson, JF Antcliff, P Proks, … - The New England …, 2004 - nejm.highwire.org Results Six novel, heterozygous missense mutations were identified in 10 of the 29 patients.
In two patients the diabetes was familial, and in eight it arose from a spontaneous mutation. Their
neonatal diabetes was characterized by ketoacidosis or marked hyperglycemia and was ... Cited by 353 - Related articles - BL Direct - All 13 versions
- ►nih.gov P Proks, JF Antcliff, J Lippiat, AL Gloyn, … - Proceedings of the …, 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 ATP-sensitive (K ATP ) channel, cause permanent ... Cited by 115 - Related articles - All 11 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
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 genetic etiology is unknown in most PNDM ... Cited by 70 - Related articles - All 4 versions
AT Hattersley, FM Ashcroft - Diabetes, 2005 - Am Diabetes Assoc Closure of ATP-sensitive K + channels (K ATP channels) in response to metabolically generated
ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic β-cells. Heterozygous
gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this ... Cited by 138 - Related articles - BL Direct - All 10 versions
- ►diabetesjournals.org [PDF] E Codner, S Flanagan, S Ellard, H García, AT … - Diabetes Care, 2005 - Am Diabetes Assoc Cardiac ventricles release B-type na- triuretic peptide (BNP) in response to volume expansion
and pressure overload; therefore, BNP concentration may be used as a biochemical marker
of cardiac failure (1). BNP levels are high in diabetic subjects with left ventricular dys- ... Cited by 50 - Related articles - All 5 versions
T Klupa, EL Edghill, J Nazim, J Sieradzki, S Ellard, AT … - Diabetologia, 2005 - Springer To the Editor Diabetes caused by severe mutations in beta cell genes is usually diagnosed as
neonatal diabetes [1] or MODY [2]. Activating mutations in KCJN11, the gene encoding the
ATP-sensitive potassium channel subunit Kir6.2, have been described in very-early-onset ... Cited by 49 - Related articles - All 3 versions
