Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control

Nature Genetics

Volumn 49, Issue 11, 2017, Pages 1642-1646

  Tessadori, Federico ^a   Giltay, Jacques C ^a   Hurst, Jane A ^b   Massink, Maarten P ^a   Duran, Karen ^a   Vos, Harmjan R ^a   Van Es, Robert M ^a   Scott, Richard H ^b   Van Gassen, Koen L I ^a   Bakkers, Jeroen ^a   Van Haaften, Gijs ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DOUBLE STRANDED DNA; HISTONE H2AX; HISTONE H4; LYSINE 91 IN THE HISTONE H4 CORE; MESSENGER RNA; UNCLASSIFIED DRUG; HISTONE; NUCLEOSOME;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; CELL CYCLE PROGRESSION; CELL CYCLE REGULATION; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA DAMAGE RESPONSE; EMBRYO; EMBRYO DEVELOPMENT; GENE EXPRESSION; GENOMIC INSTABILITY; GERMLINE MUTATION; GROWTH RETARDATION; HISTONE ACETYLATION; HISTONE METHYLATION; HISTONE MODIFICATION; HISTONE PHOSPHORYLATION; HISTONE UBIQUITINATION; HUMAN; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SEQUENCE; SHORT STATURE; ZEBRA FISH; ADOLESCENT; ANIMAL; CELL CYCLE CHECKPOINT; CHEMISTRY; CHILD; DEVELOPMENTAL DISABILITIES; DNA DAMAGE; DNA REPAIR; FEMALE; GENE EXPRESSION REGULATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; INFANT; INTELLECTUAL DISABILITY; METABOLISM; NONMAMMALIAN EMBRYO; NUCLEOSOME; PATHOLOGY; SYNDROME;

ADOLESCENT; ANIMALS; APOPTOSIS; CELL CYCLE CHECKPOINTS; CHILD; DEVELOPMENTAL DISABILITIES; DNA DAMAGE; DNA REPAIR; EMBRYO, NONMAMMALIAN; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC INSTABILITY; GERM-LINE MUTATION; HISTONES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MICROCEPHALY; MUTATION, MISSENSE; NUCLEOSOMES; SYNDROME; ZEBRAFISH;

EID: 85032449127     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3956     Document Type: Article

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