Mutation of an A-kinase-anchoring protein causes long-QT syndrome (Q24304235)

Potassium voltage-gated channel subfamily Q member 1

GOA release 2020-03-11

1 reference

regulation of cardiac muscle cell action potential involved in regulation of contraction

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

5

Michael J Ackerman

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author name string

Lei Chen

1

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Michelle L Marquardt

2

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David J Tester

3

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Kevin J Sampson

4

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Robert S Kass

Proceedings of the National Academy of Sciences of the United States of America

6

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language of work or name

English

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publication date

26 December 2007

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published in

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volume

104

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issue

52

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page(s)

20990-5

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2409254/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2409254

Phosphorylation of the A-kinase-anchoring protein Yotiao contributes to protein kinase A regulation of a heart potassium channel

19 March 2017

1 reference

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Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak

19 March 2017

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PKA-phosphorylation of PDE4D3 facilitates recruitment of the mAKAP signalling complex

19 March 2017

1 reference

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Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel

19 March 2017

1 reference

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mAKAP assembles a protein kinase A/PDE4 phosphodiesterase cAMP signaling module

19 March 2017

1 reference

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PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts

19 March 2017

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Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

19 March 2017

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Compartmentation of cyclic nucleotide signaling in the heart: the role of A-kinase anchoring proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2409254

Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism

19 March 2017

1 reference

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Beta-adrenergic regulation requires direct anchoring of PKA to cardiac CaV1.2 channels via a leucine zipper interaction with A kinase-anchoring protein 15

19 March 2017

1 reference

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Phosphorylation of serine 1928 in the distal C-terminal domain of cardiac CaV1.2 channels during beta1-adrenergic regulation

19 March 2017

1 reference

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AKAP signaling complexes: getting to the heart of the matter

27 September 2017

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The where's and when's of kinase anchoring

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2409254

Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects

27 September 2017

1 reference

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Regulatory actions of the A-kinase anchoring protein Yotiao on a heart potassium channel downstream of PKA phosphorylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2409254

Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel

27 September 2017

1 reference

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Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

27 September 2017

1 reference

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Diagnostic criteria for the long QT syndrome. An update

27 September 2017

1 reference

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Long QT syndrome: from channels to cardiac arrhythmias

27 September 2017

1 reference

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Autonomic control of cardiac action potentials: role of potassium channel kinetics in response to sympathetic stimulation.

30 May 2018

1 reference

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A model for human ventricular tissue.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2409254

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18093912

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18093912

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0710527105

1 reference

4549971

ADS bibcode

2007PNAS..10420990C

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4549971

1 reference

1 reference

1 reference