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Scholar Results 1 - 10 of about 25 citing Edghill: Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit.... (0.09 sec) 

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

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

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

Mutations in the Kir6. 2 subunit of the KATP channel and permanent neonatal diabetes: new …


AS Slingerland, AT Hattersley - Annals of Medicine, 2005 - informahealthcare.com
Abstract Permanent neonatal diabetes (PNDM) is diagnosed in the first three
months of life and is a major management problem as patients require lifelong
insulin injections. Recently, activating mutations in the KCNJ11 gene which ...
Cited by 43 - Related articles - All 7 versions

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation …

- 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 ...
Cited by 33 - Related articles - BL Direct - All 6 versions

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes …

- diabetesjournals.org
EL Edghill, RJ Dix, SE Flanagan, PJ Bingley, … - Diabetes, 2006 - Am Diabetes Assoc
Children with permanent diabetes are usually assumed to have type 1 diabetes. It
has recently been shown that there are genetic subgroups of diabetes that are
often diagnosed during the neonatal period but may present later. A recent ...
Cited by 33 - Related articles - BL Direct - All 6 versions

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6. 2 ( …


AL Gloyn, J Siddiqui, S Ellard - Human mutation, 2006 - interscience.wiley.com
The beta-cell ATP-sensitive potassium channel is a key component of
stimulus-secretion coupling in the pancreatic beta-cell. The channel couples
metabolism to membrane electrical events, bringing about insulin secretion. ...
Cited by 32 - Related articles - BL Direct - All 3 versions

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of …

- endojournals.org
J Stanik, D Gasperikova, M Paskova, L Barak, … - Journal of Clinical Endocrinology & Metabolism, 2007 - Endocrine Soc
Context: Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic ß-cell
K ATP channel have recently been shown to be the most common cause of permanent
neonatal diabetes mellitus (PNDM). Information regarding the frequency of ...
Cited by 30 - Related articles - BL Direct - All 4 versions

Neonatal diabetes mellitus

- endojournals.org
L Aguilar-Bryan, J Bryan - Endocrine Reviews, 2008 - Endocrine Soc
An explosion of work over the last decade has produced insight into the multiple
hereditary causes of a nonimmunological form of diabetes diagnosed most
frequently within the first 6 months of life. These studies are providing ...
Cited by 15 - Related articles - BL Direct - All 6 versions


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