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Scholar Results 1 - 10 of about 16 citing Proks: Functional effects of mutations at F35 in the NH2-terminus of Kir6. 2 (KCNJ11), causing.... (0.07 sec) 

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous …

- nih.gov
S Ellard, SE Flanagan, CA Girard, AM Patch, … - The American Journal of Human Genetics, 2007 - Elsevier
Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming
Kir6.2 subunit of the pancreatic beta cell K ATP channel are the most common
cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a ...
Cited by 28 - Related articles - BL Direct - All 9 versions

A Kir6. 2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion …

- shouxi.net
AI Tarasov, HJ Welters, S Senkel, GU Ryffel, … - Diabetes, 2006 - Am Diabetes Assoc
ATP-sensitive K + channels (K ATP channels) couple ß-cell metabolism to
electrical activity and thereby play an essential role in the control of insulin
secretion. Gain-of-function mutations in Kir6.2 (KCNJ11), the pore-forming ...
Cited by 17 - Related articles - BL Direct - All 5 versions

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive …

- shouxi.net
R Masia, JC Koster, S Tumini, F Chiarelli, C … - Diabetes, 2007 - Am Diabetes Assoc
Mutations in the pancreatic ATP-sensitive K + channel (K ATP channel) cause
permanent neonatal diabetes mellitus (PNDM) in humans. All of the K ATP channel
mutations examined result in decreased ATP inhibition, which in turn is ...
Cited by 17 - Related articles - BL Direct - All 6 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

ATP-sensitive K+ channels and disease: from molecule to malady

- physiology.org
FM Ashcroft - American Journal of Physiology- Endocrinology And …, 2007 - Am Physiological Soc
This essay is based on a lecture given to the American Physiological Society in
honor of Walter B. Cannon, an advocate of homeostasis. It focuses on the role of
the ATP-sensitive potassium K + (K ATP ) channel in glucose homeostasis ...
Cited by 12 - Related articles - BL Direct - All 2 versions

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes …

- oxfordjournals.org
P Proks, K Shimomura, TJ Craig, CAJ Girard, … - Human Molecular Genetics, 2007 - Oxford Univ Press
Activating mutations in the genes encoding the ATP-sensitive potassium (K ATP )
channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. Here,
we analyse the molecular mechanism of action of the heterozygous mutation ...
Cited by 12 - Related articles - BL Direct - All 4 versions

KATP channel pharmacogenomics: from bench to bedside


S Sattiraju, S Reyes, GC Kane, A Terzic - Clinical pharmacology and therapeutics, 2008 - pubmedcentral.nih.gov
Pharmacogenomics has established genetic variations in drug-metabolizing
pathways, transporters, receptors, and signaling cascades as critical in
defining pharmacokinetic and/or pharmacodynamic outcomes. 3 A therapeutic ...
Cited by 8 - Related articles - All 4 versions

Genetics of type 2 diabetes mellitus and obesity-a review


B Jafar-Mohammadi, MI McCarthy - Annals of Medicine, 2008 - Informa Pharma Science
Type 2 diabetes (T2D) and obesity are recognized as conditions of growing
biomedical importance to societies worldwide. Despite this, lack of
understanding concerning the processes which normally serve to maintain ...
Cited by 6 - Related articles - BL Direct - All 4 versions

Diabetes and hypoglycaemia in young children and mutations in the Kir6. 2 subunit of the …


I Flechtner, P De Lonlay, M Polak - Diabetes and Metabolism, 2006 - Elsevier
ATP-sensitive potassium channels (K ATP ) couple cell metabolism to electrical
activity by regulating potassium movement across the membrane. These channels
are octameric complex with two kind of subunits: four regulatory ...
Cited by 5 - Related articles - BL Direct - All 3 versions

Molecular cell biology of KATP channels: implications for neonatal diabetes


AJ Smith, TK Taneja, J Mankouri, A … - Expert Reviews in Molecular Medicine, 2007 - Cambridge Univ Press
ATP-sensitivepotassium(K ATP )channelsplayakeyroleintheregulationofinsulin
secretion by coupling glucose metabolism to the electrical activity of
pancreatic b-cells. To generate an electric signal of suitable magnitude, ...
Cited by 4 - Related articles - All 2 versions


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