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Scholar Results 1 - 10 of about 101 related to Hattersley: Activating mutations in Kir6. 2 and neonatal diabetes. (0.11 sec) 

Activating mutations in Kir6. 2 and neonatal diabetes


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 ...
Cited by 138 - Related articles - BL Direct - All 10 versions

Molecular basis of Kir6. 2 mutations associated with neonatal diabetes or neonatal diabetes …

- 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

Mutations in KCNJ11, which encodes Kir6. 2, are a common cause of diabetes diagnosed in …


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

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6. 2


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

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

- shouxi.net
AP Babenko, M Polak, H Cave, K Busiah, P … - The New England journal of medicine, 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 ...
Cited by 155 - Related articles - BL Direct - All 12 versions

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes …

- oxfordjournals.org
P Proks, AL Arnold, J Bruining, C Girard, SE … - Human molecular genetics, 2006 - Oxford Univ Press
Neonatal diabetes is a genetically heterogeneous disorder with nine different
genetic aetiologies reported to date. Heterozygous activating mutations in the
KCNJ11 gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive ...
Cited by 76 - Related articles - BL Direct - All 9 versions

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit …

- whiterose.ac.uk [PDF] 
AL Gloyn, ER Pearson, JF Antcliff, P Proks, … - The New England journal of medicine, 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 ...
Cited by 351 - Related articles - BL Direct - All 13 versions

Relapsing diabetes can result from moderately activating mutations in KCNJ11

- 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

A gating mutation at the internal mouth of the Kir6. 2 pore is associated with DEND …


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

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating …


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


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