Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. (Q34783889)

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31 January 2020

title

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation (English)

1 reference

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31 January 2020

author

Benjamin A. Salisbury

5

1 reference

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31 January 2020

6

Arthur A M Wilde

1 reference

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31 January 2020

8

Michael J Ackerman

1 reference

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31 January 2020

author name string

David J Tester

1

1 reference

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31 January 2020

Carmen Valdivia

2

1 reference

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31 January 2020

Carole Harris-Kerr

3

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31 January 2020

Marielle Alders

4

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31 January 2020

Jonathan C Makielski

7

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31 January 2020

publication date

24 April 2010

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31 January 2020

1 reference

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31 January 2020

volume

7

1 reference

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31 January 2020

issue

7

1 reference

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31 January 2020

page(s)

912-919

1 reference

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Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

31 January 2020

cites work

1 reference

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Prevalence of the congenital long-QT syndrome.

7 July 2018

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Therapeutic strategies for long-QT syndrome: does the molecular substrate matter?

7 July 2018

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Common candidate gene variants are associated with QT interval duration in the general population

7 July 2018

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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

7 July 2018

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Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome

7 July 2018

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Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

7 July 2018

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

7 July 2018

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A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y

7 July 2018

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Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

7 July 2018

1 reference

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A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels

7 July 2018

1 reference

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Modulating effects of age and gender on the clinical course of long QT syndrome by genotype

7 July 2018

1 reference

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Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A.

7 July 2018

1 reference

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Risk stratification in the long-QT syndrome.

7 July 2018

1 reference

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A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3074983

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

7 July 2018

1 reference

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

7 July 2018

1 reference

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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

7 July 2018

1 reference

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Cardiac sodium channel gene variants and sudden cardiac death in women.

7 July 2018

1 reference

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Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks

26 October 2018

1 reference

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Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants

26 October 2018

1 reference

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

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20403459

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20403459

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.HRTHM.2010.04.014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20403459%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20403459%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference