Arrhythmogenic biophysical phenotype for SCN5A mutation S1787N depends upon splice variant background and intracellular acidosis

PLoS ONE

Volumn 10, Issue 4, 2015, Pages

  Hu, Rou Mu ^a,b   Tan, Bi Hua ^b,c   Tester, David J ^d   Song, Chunhua ^c   He, Yang ^b   Dovat, Sinisa ^c   Peterson, Blaise Z ^c   Ackerman, Michael J ^d   Makielski, Jonathan C ^b  

^a Emergency Department   (China)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c PENN STATE COLLEGE OF MEDICINE   (United States)

^d MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; GLUTAMINE; SERINE; SODIUM CHANNEL NAV1.5; ISOPROTEIN; SCN5A PROTEIN, HUMAN;

ACIDOSIS; ARRHYTHMOGENESIS; ARTICLE; CELL PH; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; LONG QT SYNDROME 3; PATHOGENICITY; PHENOTYPE; RNA SPLICING; SCN5A GENE; ARRHYTHMIAS, CARDIAC; COMPLICATION; GENETICS; HEK293 CELL LINE; LONG QT SYNDROME; MEMBRANE POTENTIAL; METABOLISM; NUCLEOTIDE SEQUENCE; PATCH CLAMP TECHNIQUE; PATHOLOGY; PH; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ACIDOSIS; ARRHYTHMIAS, CARDIAC; BASE SEQUENCE; HEK293 CELLS; HUMANS; HYDROGEN-ION CONCENTRATION; LONG QT SYNDROME; MEMBRANE POTENTIALS; MUTAGENESIS, SITE-DIRECTED; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; RNA SPLICING;

EID: 84928813796     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0124921     Document Type: Article

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