A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes (Q27863920)

15 November 2016

title

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes (English)

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PubMed

PubMed publication ID

15 November 2016

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Sarah E Flanagan

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Sian Ellard

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Andrew Tym Hattersley

object named as

Andrew T Hattersley

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Frances Ashcroft

object named as

Frances M Ashcroft

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author name string

Peter Proks

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Kevin Colclough

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Jan Bruining

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Christophe Girard

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Brian Larkin

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Amanda L Arnold

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

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language of work or name

English

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publication date

1 June 2006

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published in

Human Molecular Genetics

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1793-800

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cites work

1 reference

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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

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Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

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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

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Relapsing diabetes can result from moderately activating mutations in KCNJ11.

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Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

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Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

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ATP-sensitive potassium channelopathies: focus on insulin secretion

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Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

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High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

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The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

21 January 2018

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Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

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Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

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Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions

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A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

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N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits

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The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide

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Congenital hyperinsulinism

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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

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