The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
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The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway.
The gene implicated in the May-Hegglin anomaly and related macrothrombocytopenias, MYH9, encodes myosin-IIA, a protein that enables morphogenesis in diverse cell types. Defective myosin-IIA complexes are presumed to perturb megakaryocyte (MK) differentiation or generation of proplatelets. We observed that Myh9(-/-) mouse embryonic stem (ES) cells differentiate into MKs that are fully capable of...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
1Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA; 2Department of Medicine, Harvard Medical School, Boston, MA; 3Division of Hematology and Oncology, Children’s Hospital, Boston, MA; 4Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA; 5Department of Biochemistry, University of Pavia, Fondazione Istituto di Ricovero e Cura a...
متن کاملR1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.
May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. Recent evidence links MHA to mutations in the MYH9 gene. MHA has not been reported in Taiwan before. We report a 25-year-old Taiwanese man who presented with prolonged bleeding after dental extraction. Examination of peripheral bloo...
متن کاملThe May-Hegglin anomaly: platelet function, ultrastructure and chromosome studies.
T HE MAY-HEGCLIN ANOMALY is a rare hereditary condition characterized by giant platelets and D#{246}hle inclusion bodies in the granulocytes. May first described the anomaly in 1909,’ and in 1945 Hegglin described the condition in a man and his two sons.2 Subsequent reports have confirmed the familial nature with an autosomal dominant mode of inheritance.3 3 Although most persons with the May-H...
متن کاملA Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly
In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm³; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15,000/mm³ with giant platelets....
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ژورنال
عنوان ژورنال: Blood
سال: 2007
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2007-02-071589