A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations (Q33159495)

23 July 2017

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations (English)

1 reference

23 July 2017

Krekwit Shinlapawittayatorn

1

1 reference

23 July 2017

Xi X Du

2

1 reference

23 July 2017

Haiyan Liu

3

1 reference

23 July 2017

Eckhard Ficker

4

1 reference

23 July 2017

Elizabeth S Kaufman

5

1 reference

23 July 2017

Isabelle Deschênes

6

1 reference

23 July 2017

23 November 2010

1 reference

23 July 2017

1 reference

23 July 2017

8

1 reference

23 July 2017

3

1 reference

23 July 2017

455-462

1 reference

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

23 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Prevalence of the congenital long-QT syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Sodium channel mutations and arrhythmias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

SCN5A channelopathies--an update on mutations and mechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

A carboxyl-terminal hydrophobic interface is critical to sodium channel function. Relevance to inherited disorders.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Sodium channel inactivation in heart: a novel role of the carboxy-terminal domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Gene sequencing in neonates and infants with the long QT syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Implication of the C-terminal region of the alpha-subunit of voltage-gated sodium channels in fast inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Current concepts in long QT syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Molecular mechanism for an inherited cardiac arrhythmia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Evidence for interactions between batrachotoxin-modified channels in hybrid neuroblastoma cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Inward sodium current at resting potentials in single cardiac myocytes induced by the ischemic metabolite lysophosphatidylcholine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Cardiac sodium channel dysfunction in sudden infant death syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

QT-interval prolongation in right precordial leads: an additional electrocardiographic hallmark of Brugada syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050092

A reinterpretation of mammalian sodium channel gating based on single channel recording

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21109022

12 December 2020

inferred from PubMed ID database lookup

Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21109022

12 December 2020

inferred from PubMed ID database lookup

Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21109022

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.HRTHM.2010.11.034

1 reference

release_uop4c5ydkvgftivkcmpmjryn6a

23 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uop4c5ydkvgftivkcmpmjryn6a

24 November 2022

mapped directly with Wikidata item

PMCID

3050092

1 reference

23 July 2017

1 reference