(Q34517554)

English

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

familial dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

author name string

Jianding Cheng

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Ana Morales

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Jill D Siegfried

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Duanxiang Li

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Nadine Norton

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Junyao Song

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Jorge Gonzalez-Quintana

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Jonathan C Makielski

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Ray E Hershberger

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

0 references

publication date

1 December 2010

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Clinical and Translational Science

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

287-294

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

On the road to iPS cell cardiovascular applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Mutations of presenilin genes in dilated cardiomyopathy and heart failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Intracellular Na+ regulation in cardiac myocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

A unique role for the S4 segment of domain 4 in the inactivation of sodium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

27 October 2018

Cardiac sodium channel dysfunction in sudden infant death syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026282

27 October 2018

Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21167004

12 December 2020

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Identifiers

10.1111/J.1752-8062.2010.00249.X

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

release_tv24zu2nbjdmrbub37pu5w6z7q

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https://api.fatcat.wiki/v0/release/tv24zu2nbjdmrbub37pu5w6z7q

24 November 2022

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Europe PubMed Central

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2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

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2 August 2017

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