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Title

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function

Authors
Oka, Yoshimoto
Tanizawa, Yukio
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Published in Journal of Clinical Endocrinology and Metabolism. 2005, vol. 90, no. 9, p. 5401-6
Abstract The ATP-sensitive potassium (K(ATP)) channel, assembled from the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1, regulates insulin secretion in beta-cells. A loss of function of K(ATP) channels causes depolarization of beta-cells and congenital hyperinsulinism (CHI), a disease presenting with severe hypoglycemia in the newborn period.
Keywords ATP-Binding Cassette Transporters/genetics/metabolismAdenosine Triphosphate/metabolismAmino Acid SequenceCell LineFluorescent Antibody TechniqueHomozygoteHumansHyperinsulinism/congenital/geneticsImmunohistochemistryInfant, NewbornMicroscopy, ConfocalMolecular Sequence DataMutation, MissensePatch-Clamp TechniquesPotassium Channels/genetics/metabolismPotassium Channels, Inwardly Rectifying/genetics/metabolism/physiologyProtein TransportReceptors, Drug/genetics/metabolismStaining and LabelingSulfonylurea ReceptorsTransfection
Identifiers
PMID: 15998776
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Research groups Migration cellulaire (645)
Etude des altérations du gène ATM dans divers cancers de l'enfant (178)
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MARTHINET, Eric et al. Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. In: Journal of Clinical Endocrinology & Metabolism, 2005, vol. 90, n° 9, p. 5401-6. https://archive-ouverte.unige.ch/unige:36659

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Deposited on : 2014-05-16

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