(Q27863920)

15 November 2016

title

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

1 reference

PubMed

PubMed publication ID

15 November 2016

1 reference

Sarah E Flanagan

5

0 references

Sian Ellard

object named as

Sian Ellard

10

0 references

Andrew Tym Hattersley

8

object named as

Andrew T Hattersley

0 references

Frances Ashcroft

9

object named as

Frances M Ashcroft

0 references

author name string

Peter Proks

1

0 references

Kevin Colclough

7

0 references

Jan Bruining

3

0 references

Christophe Girard

4

0 references

Brian Larkin

6

0 references

Amanda L Arnold

2

0 references

language of work or name

English

0 references

publication date

1 June 2006

0 references

published in

Human Molecular Genetics

1 reference

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

PubMed

volume

15

0 references

issue

11

0 references

page(s)

1793-800

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL101

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

21 January 2018

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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.

21 January 2018

1 reference

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Relapsing diabetes can result from moderately activating mutations in KCNJ11.

21 January 2018

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

21 January 2018

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Octameric stoichiometry of the KATP channel complex

21 January 2018

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Roles of KATP channels as metabolic sensors in acute metabolic changes

21 January 2018

1 reference

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

21 January 2018

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ATP-sensitive potassium channelopathies: focus on insulin secretion

21 January 2018

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Sulphonylurea action revisited: the post-cloning era.

21 January 2018

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

21 January 2018

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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

21 January 2018

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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.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The ATP switch model for ABC transporters

21 January 2018

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The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels.

21 January 2018

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

21 January 2018

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Toward linking structure with function in ATP-sensitive K+ channels

21 January 2018

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Adenosine diphosphate as an intracellular regulator of insulin secretion.

21 January 2018

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

21 January 2018

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Congenital hyperinsulinism

21 January 2018

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The interaction of nucleotides with the tolbutamide block of cloned ATP-sensitive K+ channel currents expressed in Xenopus oocytes: a reinterpretation.

21 January 2018

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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

21 January 2018

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3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1.

21 January 2018

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Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population

21 January 2018

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Sulfonylurea-sensitive K+ channels and their probable role for the membrane potential of mouse motor nerve endings

21 January 2018

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Alternative sulfonylurea receptor expression defines metabolic sensitivity of K-ATP channels in dopaminergic midbrain neurons

21 January 2018

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Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels

21 January 2018

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ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

21 January 2018

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Properties of cloned ATP-sensitive K+ currents expressed in Xenopus oocytes.

21 January 2018

1 reference

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