Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

American Journal of Human Genetics

Volumn 97, Issue 6, 2015, Pages 869-877

  Guo, Tingwei ^a   Chung, Jonathan H ^a   Wang, Tao ^a   McDonald Mcginn, Donna M ^b   Kates, Wendy R ^c   Hawuła, Wanda ^d   Coleman, Karlene ^e   Zackai, Elaine ^b   Emanuel, Beverly S ^b   Morrow, Bernice E ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c State University of New York Upstate Medical University: College of Medicine   (United States)

^d POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

^e CHILDREN'S HEALTHCARE OF ATLANTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; HISTONE H3; JUMONJI DOMAIN CONTAINING 1C; KDM7A PROTEIN; LEUCINE; MINA PROTEIN; PHENYLALANINE; PROLINE; PROTEIN; PROTEIN ARGININE METHYLTRANSFERASE 5; RAS RESPONSIVE ELEMENT BINDING PROTEIN; SEC24 FAMILY MEMBER C; SERINE; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; HISTONE; HISTONE DEMETHYLASE; JMJD1C PROTEIN, HUMAN; KDM7A PROTEIN, HUMAN; MINA PROTEIN, HUMAN; N DEMETHYLASE; NUCLEAR PROTEIN; RREB1 PROTEIN, HUMAN; SEC24C PROTEIN, HUMAN; TRANSCRIPTION FACTOR; VESICULAR TRANSPORT PROTEIN;

22Q11.2 DELETION SYNDROME; ARTICLE; CHROMATIN; CHROMATIN MODIFICATION; CHROMOSOME DELETION 22Q11; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DNA MODIFICATION; GENE ACTIVATION; GENE PRODUCT; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HISTONE ACETYLATION; HISTONE DEMETHYLATION; HISTONE MODIFICATION; HISTONE UBIQUITINATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE VARIATION; WHOLE EXOME SEQUENCE; CASE CONTROL STUDY; COMPLICATION; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; EXOME; GENE EXPRESSION REGULATION; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MOLECULAR GENETICS; PATHOLOGY; RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; DIGEORGE SYNDROME; DNA-BINDING PROTEINS; EXOME; GENE EXPRESSION REGULATION; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HISTONES; HUMANS; JUMONJI DOMAIN-CONTAINING HISTONE DEMETHYLASES; MOLECULAR SEQUENCE ANNOTATION; NUCLEAR PROTEINS; OXIDOREDUCTASES, N-DEMETHYLATING; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; VESICULAR TRANSPORT PROTEINS;

EID: 84952637174     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.10.013     Document Type: Article

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