SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 40, 2015, Pages 12528-12533

  Musa, Hassan ^a,b   Kline, Crystal F ^a,b   Sturm, Amy C ^a,b   Murphy, Nathaniel ^a,b   Adelman, Sara ^a,b   Wang, Chaojian ^c   Yan, Haidun ^c   Johnson, Benjamin L ^a,b   Csepe, Thomas A ^a,b   Kilic, Ahmet ^a,b   Higgins, Robert S D ^a,b   Janssen, Paul M L ^a,b   Fedorov, Vadim V ^a,b   Weiss, Raul ^a,b   Salazar, Christina ^a,b   Hund, Thomas J ^a,b,d   Pitt, Geoffrey S ^c   Mohler, Peter J ^a,b   Ptáček, Louis J ^e  

^a OHIO STATE UNIVERSITY   (United States)

^b THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d Ohio State University   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Atrial fibrillation; Channelopathy; FHF; Ion channel; Nav1.5

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG; FGF12 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR; PROTEIN BINDING; SCN5A PROTEIN, HUMAN;

ACTION POTENTIAL; ACTION POTENTIAL DURATION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARRHYTHMOGENIC AFTERDEPOLARIZATION; ARTICLE; ATRIAL FIBRILLATION; FEMALE; GAIN OF FUNCTION MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART DEPOLARIZATION; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN CELL; LONG QT SYNDROME 3; MOUSE; MUSCLE CELL; NERVE CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; SODIUM CHANNELOPATHY; STEADY STATE; SUDDEN CARDIAC DEATH; ANIMAL; C57BL MOUSE; CARDIAC MUSCLE CELL; CELL CULTURE; CHANNELOPATHY; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; IMMUNOBLOTTING; MALE; METABOLISM; MISSENSE MUTATION; PATCH CLAMP TECHNIQUE; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; TRANSGENIC MOUSE;

ACTION POTENTIALS; ANIMALS; ARRHYTHMIAS, CARDIAC; CELLS, CULTURED; CHANNELOPATHIES; FAMILY HEALTH; FEMALE; FIBROBLAST GROWTH FACTORS; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; IMMUNOBLOTTING; MALE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION, MISSENSE; MYOCYTES, CARDIAC; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PEDIGREE; PROTEIN BINDING;

EID: 84943395547     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1516430112     Document Type: Article

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