Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G132S
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KCNJ11

NM_000525.4:p.G132S

Associated Papers

A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse.

Hugill A et al.

Diabetologia, 2010

K(ATP) channelopathies in the pancreas.

Remedi MS et al.

Pflugers Archiv : European Journal of Physiology, 2010

ATP-sensitive potassium channels in health and disease.

Clark R et al.

Advances in Experimental Medicine and Biology, 2010

Hyperinsulinism and diabetes: genetic dissection of beta cell metabolism-excitation coupling in mice.

Remedi MS et al.

Cell Metabolism, 2009

Subunit-stoichiometric evidence for kir6.2 channel gating, ATP binding, and binding-gating coupling.

Wang R et al.

Molecular Pharmacology, 2007

Hyperinsulinism in mice with heterozygous loss of K(ATP) channels.

Remedi MS et al.

Diabetologia, 2006

Hyperinsulinism in infancy: from basic science to clinical disease.

Dunne MJ et al.

Physiological Reviews, 2004

Diabetes and insulin secretion: whither KATP?

Nichols CG et al.

American Journal of Physiology. Endocrinology and Metabolism, 2002

K(ATP) channels and insulin secretion disorders.

Huopio H et al.

American Journal of Physiology. Endocrinology and Metabolism, 2002

Potassium channels: molecular defects, diseases, and therapeutic opportunities.

Shieh CC et al.

Pharmacological Reviews, 2000

The weaver mouse gain-of-function phenotype of dopaminergic midbrain neurons is determined by coactivation of wvGirk2 and K-ATP channels.

Liss B et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999

Molecular biology of adenosine triphosphate-sensitive potassium channels.

Aguilar-Bryan L et al.

Endocrine Reviews, 1999

Subunit stoichiometry of the pancreatic beta-cell ATP-sensitive K+ channel.

Inagaki N et al.

Febs Letters, 1997

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