A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 230-235

  Posch, Maximilian G ^a   Gramlich, Michael ^b   Sunde, Margaret ^c   Schmitt, Katharina R ^a   Lee, Stella H Y ^b   Richter, Silke ^a   Kersten, Andrea ^a   Perrot, Andreas ^a   Panek, Anna N ^a   Al Khatib, Iman H ^d   Nemer, Georges ^d   Mégarbané, André ^e   Dietz, Rainer ^a   Stiller, Brigitte ^f   Berger, Felix ^a   Harvey, Richard P ^b,g   Özcelik, Cemil ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f UNIVERSITY OF FREIBURG   (Germany)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR GATA 5; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX 20; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BINDING SITE; CARDIAC PATIENT; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; DNA BINDING; DNA SEQUENCE; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; NUCLEOTIDE SEQUENCE; PATENT FORAMEN OVALE; PHENOTYPE; PRIORITY JOURNAL; SPECTROFLUOROMETRY; SURFACE PLASMON RESONANCE; VALVULAR HEART DISEASE;

ADOLESCENT; ANIMALS; BASE SEQUENCE; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; CHROMATIN IMMUNOPRECIPITATION; CIRCULAR DICHROISM; COS CELLS; DNA; FEMALE; FORAMEN OVALE, PATENT; HEART SEPTAL DEFECTS, ATRIAL; HEART VALVES; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE ALIGNMENT; STRUCTURAL HOMOLOGY, PROTEIN; T-BOX DOMAIN PROTEINS; TRANSCRIPTIONAL ACTIVATION;

EID: 77951566722     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.069997     Document Type: Article

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