HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
نویسندگان
چکیده
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 Carattere Scientifico Policlinico San Matteo, Pavia, Italy; 6Vascular Biology Program, Children’s Hospital, Boston, MA; 7Departments of Pathology and Surgery, Harvard Medical School, Boston, MA; and 8Laboratory of Molecular Cardiology, National Heart, Lung and Blood Institute, Bethesda, MD
منابع مشابه
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (EPS) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, cataracts, and nephritis. These disorders resul...
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MYH9 disorders such as May-Hegglin anomaly are characterized by macrothrombocytopenia and cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA). We examined the expression of mutant NMMHC-IIA polypeptide in peripheral blood cells from patients with MYH9 5770delG and 5818delG mutations. A specific antibody to mutant...
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