Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

American Journal of Human Genetics

Volumn 97, Issue 6, 2015, Pages 848-854

  Niihori, Tetsuya ^a   Ouchi Uchiyama, Meri ^a,b   Sasahara, Yoji ^a   Kaneko, Takashi ^c   Hashii, Yoshiko ^d   Irie, Masahiro ^a,b   Sato, Atsushi ^b   Saito Nanjo, Yuka ^a,b   Funayama, Ryo ^e   Nagashima, Takeshi ^e   Inoue, Shin Ichi ^a   Nakayama, Keiko ^e   Ozono, Keiichi ^d   Kure, Shigeo ^a   Matsubara, Yoichi ^a,f   Imaizumi, Masue ^b   Aoki, Yoko ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b MIYAGI CHILDREN S HOSPITAL   (Japan)

^c TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CADMIUM 109; DNA; LUCIFERASE; MECOM PROTEIN; ONCOPROTEIN; PHORBOL 13 ACETATE 12 MYRISTATE; PLASMINOGEN ACTIVATOR INHIBITOR; THYMIDINE KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR AP 1; TRANSCRIPTION FACTOR HOXA11; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MECOM PROTEIN, HUMAN;

AMEGAKARYOCYTIC THROMBOCYTOPENIA; ARTICLE; BINDING SITE; BONE MARROW DEPRESSION; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHIMERA; CHROMATIN IMMUNOPRECIPITATION; COMPARATIVE STUDY; CONTROLLED STUDY; CORD BLOOD STEM CELL TRANSPLANTATION; DNA BINDING; EXOME; FEMALE; FORELIMB; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HEMATOPOIESIS; HUMAN; IMMUNOPRECIPITATION; LIMB DEVELOPMENT; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOULNAR SYNOSTOSIS; SCHOOL CHILD; SYNOSTOSIS; THROMBOCYTOPENIA; WILD TYPE; ZINC FINGER MOTIF; ABNORMALITIES; AMINO ACID SEQUENCE; ANIMAL; BONE MARROW; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; MOLECULAR GENETICS; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; PROTO ONCOGENE; RADIUS; SIGNAL TRANSDUCTION; ULNA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BONE MARROW; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; EXOME; FEMALE; GENE EXPRESSION REGULATION; HEMATOPOIESIS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENES; RADIUS; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; SYNOSTOSIS; THROMBOCYTOPENIA; TRANSCRIPTION FACTOR AP-1; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; TRANSFORMING GROWTH FACTOR BETA; ULNA;

EID: 84952638612     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.10.010     Document Type: Article

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