Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism (Q24297468)

potassium channel activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

C Saint-Martin

1

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Q Zhou

2

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G M Martin

3

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C Vaury

4

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G Leroy

5

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J-B Arnoux

6

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P de Lonlay

7

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S-L Shyng

8

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C Bellanné-Chantelot

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

9

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language of work or name

English

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publication date

May 2015

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published in

Clinical Genetics

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volume

87

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issue

5

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page(s)

448-54

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cites work

1 reference

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Molecular biology of adenosine triphosphate-sensitive potassium channels

19 March 2017

1 reference

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Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases.

19 March 2017

1 reference

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Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

27 September 2017

1 reference

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Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

27 September 2017

1 reference

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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

27 September 2017

1 reference

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Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1

27 September 2017

1 reference

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Familial focal congenital hyperinsulinism

27 September 2017

1 reference

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Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

27 September 2017

1 reference

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Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

27 September 2017

1 reference

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Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue

27 September 2017

1 reference

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Neonatal hyperinsulinism: clinicopathologic correlation

27 September 2017

1 reference

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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

27 September 2017

1 reference

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ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

27 September 2017

1 reference

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

21 January 2018

1 reference

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

21 January 2018

1 reference

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism

21 January 2018

1 reference

Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA.

21 January 2018

1 reference

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