NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

Human Molecular Genetics

Volumn 17, Issue 18, 2008, Pages 2886-2893

  Mcbride, Kim L ^a,b   Riley, Maurisa F ^c   Zender, Gloria A ^a   Fitzgerald Butt, Sara M ^a   Towbin, Jeffrey A ^d   Belmont, John W ^d   Cole, Susan E ^c  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JAGGED1; NOTCH1 RECEPTOR; NUCLEASE S1;

ARTICLE; CELL CYCLE S PHASE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC REGULATION; GOLGI COMPLEX; HEART LEFT VENTRICLE OUTFLOW TRACT MALFORMATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CASE-CONTROL STUDIES; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HEART VENTRICLES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LIGANDS; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NIH 3T3 CELLS; RECEPTOR, NOTCH1; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; VENTRICULAR OUTFLOW OBSTRUCTION;

EID: 50849104527     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn187     Document Type: Article

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