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Scholar Results 1 - 10 of about 102 citing Vaxillaire: Kir6. 2 mutations are a common cause of permanent neonatal diabetes in a large.... (0.13 sec) 

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

ATP-sensitive potassium channelopathies: focus on insulin secretion

- nih.gov
FM Ashcroft - Journal of Clinical Investigation, 2005 - Am Soc Clin Investig
ATP-sensitive potassium (K ATP ) channels, so named because they are inhibited
by intracellular ATP , play key physiological roles in many tissues. In
pancreatic β cells, these channels regulate glucose-dependent insulin ...
Cited by 142 - Related articles - BL Direct - All 14 versions

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

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations

- shouxi.net
ER Pearson, I Flechtner, PR Njolstad, MT … - New England Journal of Medicine, 2006 - content.nejm.org
Background Heterozygous activating mutations in KCNJ11, encoding the Kir6.2
subunit of the ATP-sensitive potassium (K ATP ) channel, cause 30 to 58 percent
of cases of diabetes diagnosed in patients under six months of age. ...
Cited by 127 - Related articles - BL Direct - All 13 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

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6. 2 …


JF Antcliff, S Haider, P Proks, MSP Sansom, … - The EMBO Journal, 2005 - pubmedcentral.nih.gov
ATP-sensitive potassium (K ATP ) channels couple cell metabolism to electrical
activity by regulating K flux across the plasma membrane. Channel closure is
mediated by ATP, which binds to the pore-forming subunit (Kir6.2). Here we ...
Cited by 93 - Related articles - All 10 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

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

Hepatocyte Nuclear Factor-4 {alpha} Is Essential for Glucose-stimulated Insulin Secretion by …

- jbc.org
A Miura, K Yamagata, M Kakei, H Hatakeyama … - Journal of Biological Chemistry, 2006 - ASBMB
Mutations in the hepatocyte nuclear factor (HNF)-4 gene cause a form of
maturity-onset diabetes of the young (MODY1) that is characterized by impairment
of glucose-stimulated insulin secretion by pancreatic -cells. HNF-4 , a ...
Cited by 51 - Related articles - BL Direct - All 8 versions

Diabetes and Insulin Secretion

- diabetesjournals.org
JC Koster, MA Permutt, CG Nichols - Diabetes, 2005 - Am Diabetes Assoc
The ATP-sensitive K + channel (K ATP channel) senses metabolic changes in the
pancreatic β-cell, thereby coupling metabolism to electrical activity and
ultimately to insulin secretion. When K ATP channels open, β-cells ...
Cited by 43 - Related articles - BL Direct - All 5 versions


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