(Q36930185)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571646%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome (English)

1 reference

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18 January 2020

main subject

Andersen-Tawil syndrome

1 reference

1

1 reference

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18 January 2020

Francesco J DeMayo

9

1 reference

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18 January 2020

author name string

J-H Lin

2

1 reference

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18 January 2020

Y S Rajawat

3

1 reference

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18 January 2020

H Jerng

4

1 reference

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18 January 2020

T G Rami

5

1 reference

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18 January 2020

X Sanchez

6

1 reference

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18 January 2020

G DeFreitas

7

1 reference

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18 January 2020

B Carabello

8

1 reference

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18 January 2020

D L Kearney

10

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18 January 2020

G Miller

11

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18 January 2020

H Li

12

1 reference

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18 January 2020

P J Pfaffinger

13

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18 January 2020

N E Bowles

14

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18 January 2020

D S Khoury

15

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18 January 2020

J A Towbin

16

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18 January 2020

language of work or name

English

0 references

publication date

29 March 2006

1 reference

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Journal of Medical Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

43

1 reference

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18 January 2020

issue

8

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18 January 2020

page(s)

653-659

1 reference

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

18 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=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Surface expression of inward rectifier potassium channels is controlled by selective Golgi export

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Channelopathies: Kir2.1 mutations jeopardize many cell functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Regions responsible for the assembly of inwardly rectifying potassium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Receptor-mediated signalling pathways acting through hydrolysis of membrane phospholipids in cardiomyocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Blockade of the inward rectifying potassium current terminates ventricular fibrillation in the guinea pig heart

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Voltage- and time-dependent block of iK1 underlying Ba2+-induced ventricular automaticity.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Determinants of cardiac electrophysiological properties in mice

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Transgenic upregulation of IK1 in the mouse heart leads to multiple abnormalities of cardiac excitability.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Suppression of bidirectional ventricular tachycardia and unmasking of prolonged QT interval with verapamil in Andersen's syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Dominant-negative suppression of IK1 in the mouse heart leads to altered cardiac excitability

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Effects of changes in left ventricular contractility on indexes of contractility in mice

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Andersen's syndrome: A distinct periodic paralysis

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564587

Bidirectional ventricular tachycardia and channelopathy

4 December 2018

1 reference

12 December 2020

Origin on the electrocardiogram of U-waves and abnormal U-wave inversion

1 reference

12 December 2020

The mechanism of bidirectional tachycardia

1 reference

12 December 2020

Topogenesis of two transmembrane type K+ channels, Kir 2.1 and KcsA

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.040816

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571646%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16571646%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

16571646

1 reference