A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia

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• 作者：Jun Yamanouchi ; Takaaki Hato ; Shinji Kunishima ; Toshiyuki Niiya…
• 刊名：Annals of Hematology
• 出版年：2015
• 出版时间：September 2015
• 年：2015
• 卷：94
• 期：9
• 页码：1599-1600
• 全文大小：327 KB
• 参考文献：1.Kunishima S, Saito H (2010) Advances in the understanding of MYH9 disorders. Curr Opin Hematol 17(5):405鈥?10. doi:10.鈥?097/鈥婱OH.鈥?b013e32833c069c鈥?/span> PubMed View Article
  2.Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N, French MYH (2014) Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med 2(4):297鈥?12. doi:10.鈥?002/鈥媘gg3.鈥?8 PubMed Central PubMed View Article
  3.Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Guthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A (2014) MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 35(2):236鈥?47. doi:10.鈥?002/鈥媓umu.鈥?2476 PubMed View Article
  4.Palandri F, Zoli M, Polverelli N, Noris P, Sollazzo D, Catani L, Vianelli N, Palandri G (2015) MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. Br J Haematol. doi:10.鈥?111/鈥媌jh.鈥?3324 PubMed
  5.Pecci A, Barozzi S, d鈥橝mico S, Balduini CL (2012) Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation. Thromb Haemost 107(6):1188鈥?189. doi:10.鈥?160/鈥婽H12-01-0005 PubMed View Article
  6.Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL (2010) Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 116(26):5832鈥?837. doi:10.鈥?182/鈥媌lood-2010-08-304725 PubMed View Article
  7.Gropper S, Althaus K, Najm J, Haase S, Aul C, Greinacher A, Giagounidis A (2012) A patient with Fechtner syndrome successfully treated with romiplostim. Thromb Haemost 107(3):590鈥?91. doi:10.鈥?160/鈥婽H11-07-0474 PubMed View Article
  8.Balduini CL, Pecci A, Savoia A (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 154(2):161鈥?74. doi:10.鈥?111/鈥媕.鈥?365-2141.鈥?011.鈥?8716.鈥媥 PubMed View Article
  9.Spinler KR, Shin JW, Lambert MP, Discher DE (2015) Myosin-II repression favors pre- /proplatelets but shear activation generates platelets and fails in macrothrombocytopenia. Blood 125(3):525鈥?33. doi:10.鈥?182/鈥媌lood-2014-05-576462 PubMed View Article
  
• 作者单位：Jun Yamanouchi (1)
  Takaaki Hato (1) (2)
  Shinji Kunishima (3)
  Toshiyuki Niiya (4)
  Hisashi Nakamura (5)
  Masaki Yasukawa (1)
  
  1. Department of Hematology, Clinical Immunology and Infectious Diseases, Ehime University Graduate School of Medicine, 454Shitsukawa, Toon, Ehime, 791-0295, Japan
  2. Division of Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan
  3. Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical Center, National Hospital Organization, Nagoya, Aichi, Japan
  4. Division of Laboratory Medicine, Ehime University Graduate School of Medicine, Toon, Ehime, Japan
  5. Department of Neurosurgery, Juzen General Hospital, Niihama, Ehime, Japan
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Hematology
  Oncology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0584

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