- ►diabetesjournals.org EL Edghill, AL Gloyn, KM Gillespie, AP Lambert, NT … - Diabetes, 2004 - Am Diabetes Assoc We have recently shown that permanent neonatal diabetes can be caused by activating mutations
in KCNJ11 that encode the Kir6.2 subunit of the ß-cell ATP-sensitive K + channel. Some of these
patients were diagnosed after 3 months of age and presented with ketoacidosis and ... Cited by 25 - Related articles - BL Direct - All 4 versions
- ►endojournals.org AL Gloyn, EA Cummings, EL Edghill, LW … - Journal of Clinical …, 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 isolated cases resulting from de novo mutations. ... Cited by 42 - Related articles - BL Direct - All 7 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
- ►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
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
- ►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
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
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
- ►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
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
