Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

PLoS Genetics

Volumn 12, Issue 10, 2016, Pages

  Preuss, Christoph ^a   Capredon, Melanie ^a   Wünnemann, Florian ^a,b   Chetaille, Philippe ^c   Prince, Andrea ^a   Godard, Beatrice ^d   Leclerc, Severine ^a   Sobreira, Nara ^e   Ling, Hua ^e   Awadalla, Philip ^f   Thibeault, Maryse ^a   Khairy, Paul ^g   Loeys, Bart ^h   Dietz, Harry ^h   Franco Cereceda, Anders ^h   Eriksson, Per ^h   Mohamed, Salah A ^h   McCallion, Andrew S ^h   Mertens, Luc ^h   Van Laer, Lut ^h   Mital, Seema ^h   Samuels, Mark E ^a,d   Andelfinger, Gregor ^a   more..

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c LAVAL UNIVERSITY   (Canada)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ONTARIO INSTITUTE FOR CANCER RESEARCH   (Canada)

^g MONTREAL HEART INSTITUTE   (Canada)

^h NONE

Author keywords

[No Author keywords available]

Indexed keywords

AORTA VALVE REGURGITATION; ARHGAP31 GENE; ARTICLE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; EPITHELIAL MESENCHYMAL TRANSITION; ETHNICITY; EXOME; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; JAG1 GENE; JARID2 GENE; MAJOR CLINICAL STUDY; MAML1 GENE; MISSENSE MUTATION; NONHUMAN; NOTCH1 GENE; PATHOGENESIS; PRINCIPAL COMPONENT ANALYSIS; SIGNAL TRANSDUCTION; SMARCA4 GENE; AORTIC VALVE; CONGENITAL HEART MALFORMATION; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETIC LINKAGE; GENETICS; HEART OUTFLOW TRACT OBSTRUCTION; HUMAN GENOME; MALE; PATHOPHYSIOLOGY; PEDIGREE; STENOSIS, OCCLUSION AND OBSTRUCTION; STOP CODON;

NOTCH RECEPTOR; NOTCH1 PROTEIN, HUMAN; NOTCH1 RECEPTOR; STOP CODON;

AORTIC VALVE; CODON, NONSENSE; CONSTRICTION, PATHOLOGIC; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENOME, HUMAN; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PEDIGREE; RECEPTOR, NOTCH1; RECEPTORS, NOTCH; SEQUENCE DELETION; SIGNAL TRANSDUCTION; VENTRICULAR OUTFLOW OBSTRUCTION;

EID: 84994302405     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1006335     Document Type: Article

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