Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. (Q46640868)

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5 January 2020

title

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP (English)

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5 January 2020

2

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5 January 2020

author name string

Peter Proks

series ordinal

1

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5 January 2020

Frances M Ashcroft

series ordinal

3

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5 January 2020

publication date

8 August 2005

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5 January 2020

published in

Human Molecular Genetics

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5 January 2020

volume

14

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5 January 2020

issue

18

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5 January 2020

page(s)

2717-2726

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

5 January 2020

cites work

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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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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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Relapsing diabetes can result from moderately activating mutations in KCNJ11.

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The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

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