Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Nature Genetics

Volumn 47, Issue 4, 2015, Pages 338-344

  Izumi, Kosuke ^a,b   Nakato, Ryuichiro ^b   Zhang, Zhe ^a   Edmondson, Andrew C ^a   Noon, Sarah ^a   Dulik, Matthew C ^a   Rajagopalan, Ramakrishnan ^a   Venditti, Charles P ^c   Gripp, Karen ^d   Samanich, Joy ^e   Zackai, Elaine H ^a,f   Deardorff, Matthew A ^a,f   Clark, Dinah ^a   Allen, Julian L ^a,f   Dorsett, Dale ^g   Misulovin, Ziva ^g   Komata, Makiko ^b   Bando, Masashige ^b   Kaur, Maninder ^a   Katou, Yuki ^b   Shirahige, Katsuhiko ^b,h   Krantz, Ian D ^a,f   more..

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF TOKYO   (Japan)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^e MONTEFIORE MEDICAL CENTER   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COHESIN; ELONGATION FACTOR; RNA POLYMERASE II; SUPER ELONGATION COMPLEX; TRANSCRIPTOME; UNCLASSIFIED DRUG; AFF4 PROTEIN, HUMAN; CELL CYCLE PROTEIN; DNA DIRECTED RNA POLYMERASE; MULTIPROTEIN COMPLEX; NONHISTONE PROTEIN; REPRESSOR PROTEIN; RNA POLYMERASE ALPHA SUBUNIT; TRANSCRIPTION ELONGATION FACTOR;

AFF4 GENE; ARTICLE; CHOPS SYNDROME; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; DE LANGE SYNDROME; EXOME; GAIN OF FUNCTION MUTATION; GENE EXPRESSION REGULATION; GENE SEQUENCE; GENOME ANALYSIS; GERMLINE MUTATION; HUMAN; HUMAN CELL; MALFORMATION SYNDROME; MISSENSE MUTATION; MOLECULAR INTERACTION; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; TRANSCRIPTION ELONGATION; AMINO ACID SEQUENCE; CASE REPORT; CHILD; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; HELA CELL LINE; MALE; METABOLISM;

AMINO ACID SEQUENCE; CELL CYCLE PROTEINS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DNA-DIRECTED RNA POLYMERASES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HEK293 CELLS; HELA CELLS; HUMANS; MALE; MULTIPROTEIN COMPLEXES; MUTATION, MISSENSE; REPRESSOR PROTEINS; TRANSCRIPTIONAL ELONGATION FACTORS;

EID: 84925840671     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3229     Document Type: Article

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