Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome (Q33162328)

23 July 2017

Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome (English)

1 reference

23 July 2017

Rou-Mu Hu

1

1 reference

23 July 2017

Bi-Hua Tan

2

1 reference

23 July 2017

Kate M Orland

3

1 reference

23 July 2017

Carmen R Valdivia

4

1 reference

23 July 2017

Amber Peterson

5

1 reference

23 July 2017

Jielin Pu

6

1 reference

23 July 2017

Jonathan C Makielski

7

1 reference

23 July 2017

1 February 2013

1 reference

American Journal of Physiology Heart and Circulatory Physiology

23 July 2017

1 reference

23 July 2017

304

1 reference

23 July 2017

7

1 reference

23 July 2017

H994-H1001

1 reference

Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels

23 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Recent progress in 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=3625899

Cardiac sodium channelopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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=3625899

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac 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=3625899

A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Neuronal nitric oxide synthase signaling in the heart is regulated by the sarcolemmal calcium pump 4b

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Mutant caveolin-3 induces persistent late sodium current and is associated with 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=3625899

The sarcolemmal calcium pump, alpha-1 syntrophin, and neuronal nitric-oxide synthase are parts of a macromolecular protein complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

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=3625899

A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

De novo mutation in the SCN5A gene associated with early onset of sudden infant death

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) 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=3625899

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal 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=3625899

Gab2, a new pleckstrin homology domain-containing adapter protein, acts to uncouple signaling from ERK kinase to Elk-1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Mouse alpha 1- and beta 2-syntrophin gene structure, chromosome localization, and homology with a discs large 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=3625899

The steady state TTX-sensitive ("window") sodium current in cardiac Purkinje fibres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625899

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

21 June 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPHEART.00705.2012

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%2FAJPHEART.00705.2012

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%2FAJPHEART.00705.2012

Congenital long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FAJPHEART.00705.2012

Molecular genetics of long QT syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23376825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital Long QT syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23376825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1152/AJPHEART.00705.2012

1 reference

23 July 2017

1 reference

23 July 2017

1 reference