(Q40435052)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

In vivo and in vitro functional characterization of Andersen's syndrome mutations (English)

1 reference

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10 January 2020

3

1 reference

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10 January 2020

author name string

Saïd Bendahhou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Emmanuel Fournier

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Guillaume Bassez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Alain Furby

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Carole Sereni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Matthew R Donaldson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Marie-Madeleine Larroque

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Bertrand Fontaine

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Jacques Barhanin

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

14 April 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

number of pages

11

1 reference

inferred from page(s)

published in

Journal of Physiology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

Pt 3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

731-741

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

Characteristic interactions with phosphatidylinositol 4,5-bisphosphate determine regulation of kir channels by diverse modulators

10 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Inward rectifiers in the heart: an update on I(K1).

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Determination of the subunit stoichiometry of an inwardly rectifying potassium channel

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Assignment of human G-protein-coupled inward rectifier K+ channel homolog GIRK3 gene to chromosome 1q21-q23.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Characterization and variation of a human inwardly-rectifying-K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Molecular cloning and expression of a human heart inward rectifier potassium channel

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Assignment of KATP-1, the cardiac ATP-sensitive potassium channel gene (KCNJ5), to human chromosome 11q24

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

The inward rectifier potassium channel family.

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

A new technique for the assay of infectivity of human adenovirus 5 DNA

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

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

29 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1464553

The exercise test in periodic paralysis

29 August 2018

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Exercise test in muscle channelopathies and other muscle disorders

1 reference

12 December 2020

10.1113/JPHYSIOL.2004.081620

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15831539%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PMC publication ID

1464553

0 references

1 reference