(Q45271611)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15718250%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Relapsing diabetes can result from moderately activating mutations in KCNJ11 (English)

1 reference

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8 January 2020

1

1 reference

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8 January 2020

Frank Reimann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15718250%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Christophe Girard

3

1 reference

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8 January 2020

Ewan Pearson

6

1 reference

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8 January 2020

Karen Temple

7

1 reference

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8 January 2020

Deborah Jg Mackay

8

1 reference

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8 January 2020

Sian Ellard

12

1 reference

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8 January 2020

Fiona Gribble

14

1 reference

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8 January 2020

author name string

Emma L Edghill

4

1 reference

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8 January 2020

Peter Proks

5

1 reference

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8 January 2020

Julian P H Shield

9

1 reference

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8 January 2020

Debra Freedenberg

10

1 reference

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8 January 2020

Kathryn Noyes

11

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8 January 2020

Frances M Ashcroft

13

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8 January 2020

Andrew T Hattersley

15

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8 January 2020

publication date

17 February 2005

1 reference

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8 January 2020

published in

Human Molecular Genetics

1 reference

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8 January 2020

volume

14

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8 January 2020

issue

7

1 reference

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8 January 2020

page(s)

925-934

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A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

MgATP activates the beta cell KATP channel by interaction with its SUR1 subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086

Crystal structure of the potassium channel KirBac1.1 in the closed state

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI086