(Q37219165)

19 August 2017

0 references

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes (English)

1 reference

19 August 2017

1 reference

Gregor Andelfinger

1

1 reference

19 August 2017

Andrew R Tapper

2

1 reference

19 August 2017

Richard C Welch

3

1 reference

19 August 2017

Carlos G Vanoye

4

1 reference

19 August 2017

Alfred L George

5

1 reference

19 August 2017

D Woodrow Benson

6

1 reference

19 August 2017

language of work or name

English

0 references

publication date

29 July 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

71

1 reference

19 August 2017

3

1 reference

19 August 2017

663-668

1 reference

Sex, hormones, and repolarization

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Gender differences in arrhythmias.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

The consequences of disrupting cardiac inwardly rectifying K(+) current (I(K1)) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Andersen syndrome autosomal dominant in three generations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Primary structure and functional expression of a mouse inward rectifier potassium channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

A potassium channel mutation in weaver mice implicates membrane excitability in granule cell differentiation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Regions responsible for the assembly of inwardly rectifying potassium channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K(+) current in K(+)-mediated vasodilation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Ontogeny of gene expression of Kir channel subunits in the rat.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Andersen's syndrome: A distinct periodic paralysis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379203

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12148092

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/342360

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

12148092

1 reference