The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current (Q35033696)

5 August 2017

The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current (English)

1 reference

5 August 2017

8

Michael J Ackerman

1 reference

5 August 2017

Jianding Cheng

1

1 reference

5 August 2017

David J Tester

2

1 reference

5 August 2017

Bi-Hua Tan

3

1 reference

5 August 2017

Carmen R Valdivia

4

1 reference

5 August 2017

Stacie Kroboth

5

1 reference

5 August 2017

Bin Ye

6

1 reference

5 August 2017

Craig T January

7

1 reference

5 August 2017

Jonathan C Makielski

9

1 reference

5 August 2017

8 March 2011

1 reference

5 August 2017

Physiological Genomics

1 reference

5 August 2017

43

1 reference

5 August 2017

9

1 reference

5 August 2017

461-466

1 reference

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Kv11.1 channel subunit composition includes MinK and varies developmentally in mouse cardiac muscle.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Alternative splicing of ryanodine receptors modulates cardiomyocyte Ca2+ signaling and susceptibility to apoptosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Rate-dependent QT shortening mechanism for the LQT3 deltaKPQ mutant

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Molecular mechanism for an inherited cardiac arrhythmia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110896

Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks

8 July 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00198.2010

Distribution and relative expression levels of calcium channel beta subunits within the chambers of the rat heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00198.2010

Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00198.2010

A smooth muscle Cav1.2 calcium channel splice variant underlies hyperpolarized window current and enhanced state-dependent inhibition by nifedipine

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00198.2010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00198.2010

Cardiac sodium channel dysfunction in sudden infant death syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00198.2010

Compound heterozygous SCN5A mutations: does the sum of the parts equal the whole?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21385947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21385947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1152/PHYSIOLGENOMICS.00198.2010

1 reference

5 August 2017

1 reference

5 August 2017

1 reference