Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

American Journal of Human Genetics

Volumn 96, Issue 2, 2015, Pages 235-244

  Racedo, Silvia E ^a   McDonald Mcginn, Donna M ^b   Chung, Jonathan H ^a   Goldmuntz, Elizabeth ^c   Zackai, Elaine ^b   Emanuel, Beverly S ^b   Zhou, Bin ^a   Funke, Birgit ^d   Morrow, Bernice E ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d LABORATORY FOR MOLECULAR MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CRK LIKE PROTEIN; MESSENGER RNA; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AORTA ARCH ANOMALY; ARTICLE; CHROMOSOME DELETION 22Q11; CONGENITAL HEART MALFORMATION; EMBRYO; FALLOT TETRALOGY; GENE DOSAGE; GENE EXPRESSION; GENE MAPPING; HAPLOINSUFFICIENCY; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; ANIMAL; CHROMOSOME 22; ECHOCARDIOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETICS; METABOLISM; PATHOLOGY; REAL TIME POLYMERASE CHAIN REACTION;

MUS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; CHROMOSOMES, HUMAN, PAIR 22; ECHOCARDIOGRAPHY; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; NUCLEAR PROTEINS; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION;

EID: 84924987970     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.12.025     Document Type: Article

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