A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism

Cardiovascular Research

Volumn 112, Issue 1, 2016, Pages 452-463

  Beqqali, Abdelaziz ^a   Bollen, Ilse A E ^b   Rasmussen, Torsten B ^c   Van Den Hoogenhof, Maarten M ^a   Van Deutekom, Hanneke W M ^a   Schafer, Sebastian ^d,e   Haas, Jan ^f,g   Meder, Benjamin ^f,g   Sørensen, Keld E ^c   Van Oort, Ralph J ^a   Mogensen, Jens ^h   Hubner, Norbert ^g,i,j   Creemers, Esther E ^a   Van Der Velden, Jolanda ^b   Pinto, Yigal M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d DEPARTMENT OF CARDIOLOGY   (Singapore)

^e NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^h ODENSE UNIVERSITY HOSPITAL   (Denmark)

ⁱ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^j MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

more..

Author keywords

Alternative splicing; Cardiomyopathy; Dilated cardiomyopathy; Heart failure; RBM20; Sarcomere

Indexed keywords

CONNECTIN; CYCLIC AMP DEPENDENT PROTEIN KINASE; GLUTAMIC ACID; IMMUNOGLOBULIN; LYSINE; MESSENGER RNA; RNA BINDING MOTIF PROTEIN 20; RNA BINDING PROTEIN; UNCLASSIFIED DRUG; ISOPROTEIN; RBM20 PROTEIN, RAT; RIBONUCLEIC ACID BINDING MOTIF PROTEIN 20, HUMAN; TTN PROTEIN, HUMAN; TTN PROTEIN, RAT;

ADULT; AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIAC MUSCLE CELL; CELL ISOLATION; CELLULAR DISTRIBUTION; COMPARATIVE STUDY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CORONARY ARTERY ATHEROSCLEROSIS; DENSITOMETRY; DOWN REGULATION; ECHOCARDIOGRAPHY; EXON; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HAPLOINSUFFICIENCY; HEART FAILURE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART MUSCLE BIOPSY; HEART TRANSPLANTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; MOLECULAR WEIGHT; MOUSE; MYOCARDITIS; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN MODIFICATION; PROTEIN PHOSPHORYLATION; PROTEIN STABILITY; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SEQUENCE; RNA STABILITY; SARCOMERE; SARCOMERE LENGTH; STARLING LAW; TISSUE SECTION; WESTERN BLOTTING; AGED; ALTERNATIVE RNA SPLICING; ANIMAL; BIOLOGICAL MODEL; CASE CONTROL STUDY; CELL LINE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HETEROZYGOTE; MALE; METABOLISM; MUSCLE CONTRACTION; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; RAT;

ADULT; AGED; ALTERNATIVE SPLICING; ANIMALS; CARDIOMYOPATHY, DILATED; CASE-CONTROL STUDIES; CELL LINE; CONNECTIN; CYCLIC AMP-DEPENDENT PROTEIN KINASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HEREDITY; HETEROZYGOTE; HUMANS; MALE; MODELS, CARDIOVASCULAR; MUSCLE CONTRACTION; MUTATION; MYOCYTES, CARDIAC; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; PROTEIN ISOFORMS; RATS; RNA-BINDING PROTEINS; TRANSFECTION;

EID: 84992648200     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvw192     Document Type: Article

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