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Article

Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.

Molecular diagnosis & therapy - 1 Apr 2012

Abbasi Farzaneh, Saba Sadaf, Ebrahim-Habibi Azadeh, Sayahpour Forough A, Amiri Parvin, Larijani Bagher, Amoli Mahsa M

Abstract excerpt

BACKGROUND: Activating mutations of potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), which encodes Kir6.2 (beta-cell adenosine triphosphate-sensitive potassium [K(ATP)] channel subunit), have been associated with neonatal diabetes mellitus (NDM) in different studies. Treatment with oral sulfonylureas in place of exogenous insulin injections results in improved glycemic control in most...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Identifiers

PMID: 22471336
DOI: 10.1007/BF03256435

Genes

KCNJ11

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Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.PMID 22471336Read ↗

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Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French PatientsSemantic proximity Read ↗

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Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.Semantic proximity Read ↗

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.Semantic proximity Read ↗

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