Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

Cardiovascular Research

Volumn 88, Issue 1, 2010, Pages 130-139

  Boogerd, Cornelis J J ^a   Dooijes, Dennis ^b,d   Ilgun, Aho ^a   Hordijk, Roel ^c   Van De Laar, Ingrid M B H ^b   Rump, Patrick ^c   Veenstra Knol, Hermine E ^c   Moorman, Antoon F M ^a   Barnett, Phil ^a   Postma, Alex V ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Genetics; Heart; Holt Oram syndrome; TBX5; Transcription factor

Indexed keywords

FIBROBLAST GROWTH FACTOR 10; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR TBX5;

ANIMAL CELL; ANIMAL TISSUE; APLASIA; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE TACHYCARDIA; HOLT ORAM SYNDROME; HUMAN; LIMB DEFECT; LOSS OF FUNCTION MUTATION; MITRAL VALVE REGURGITATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PULMONARY ARTERY STENOSIS; RAT; TRANSCRIPTION INITIATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; ATRIAL NATRIURETIC FACTOR; BINDING SITES; CASE-CONTROL STUDIES; CELL LINE; DNA MUTATIONAL ANALYSIS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FIBROBLAST GROWTH FACTOR 10; GATA4 TRANSCRIPTION FACTOR; GENOTYPE; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOPRECIPITATION; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; PROTEIN CONFORMATION; RATS; RECOMBINANT FUSION PROTEINS; T-BOX DOMAIN PROTEINS; TRANSFECTION; UPPER EXTREMITY DEFORMITIES, CONGENITAL;

EID: 77956811442     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvq178     Document Type: Article

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