TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia

European Journal of Haematology

Volumn 92, Issue 4, 2014, Pages 276-282

  Kunishima, Shinji ^a   Nishimura, Satoshi ^b,c   Suzuki, Hidenori ^d   Imaizumi, Masue ^e   Saito, Hidehiko ^a  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

^d NIPPON MEDICAL SCHOOL   (Japan)

^e MIYAGI CHILDREN S HOSPITAL   (Japan)

Author keywords

Macrothrombocytopenia; Microtubules; Proplatelet formation; TUBB1; 1 tubulin

Indexed keywords

ALPHA TUBULIN; BETA TUBULIN; TUBB1 PROTEIN, HUMAN; TUBULIN;

ADULT; ARTICLE; CASE REPORT; CHILD; CHO CELL; CONGENITAL MACROTHROMBOCYTOPENIA; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DIZYGOTIC TWINS; FEMALE; FETUS LIVER; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; MALE; MEGAKARYOCYTE; MICROTUBULE; MICROTUBULE ASSEMBLY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; THROMBOCYTE RELEASE REACTION; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; TRANSMISSION ELECTRON MICROSCOPY; TUBB1 MUTATION; AMINO ACID SEQUENCE; ANIMAL; CHEMICAL STRUCTURE; CHEMISTRY; CHO CELL LINE; CRICETULUS; GENETICS; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; THROMBOCYTE; ULTRASTRUCTURE;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BLOOD PLATELETS; CHILD; CHO CELLS; CRICETULUS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEGAKARYOCYTES; MICE; MICROTUBULES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; THROMBOCYTOPENIA; TUBULIN; TWINS, DIZYGOTIC;

EID: 84896544150     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/ejh.12252     Document Type: Article

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