The first two cases of MYH9 disorders in Thailand: an international collaborative study
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- 作者：Nongnuch Sirachainan (1)
Patcharee Komwilaisak (2)
Katsumasa Kitamura (3)
Suradej Hongeng (1)
Takashi Sekine (4)
Shinji Kunishima (3)
1. Department of Pediatrics ; Faculty of Medicine Ramathibodi Hospital ; Mahidol University ; Bangkok ; Thailand
2. Srinagarind Hospital ; KhonKaen University ; KhonKaen ; Thailand
3. Department of Advanced Diagnosis ; Clinical Research Center ; National Hospital Organization Nagoya Medical Center ; 4-1-1 Sannomaru ; Naka-ku ; Nagoya ; 4600001 ; Japan
4. Department of Pediatrics ; Toho University School of Medicine ; Ohashi Hospital ; Tokyo ; Japan - 刊名：Annals of Hematology
- 出版年：2015
- 出版时间：April 2015
- 年：2015
- 卷：94
- 期：4
- 页码：707-709
- 全文大小：344 KB
- 参考文献：1. Balduini, CL, Pecci, A, Savoia, A (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 154: pp. 161-174 CrossRef
2. Kunishima, S, Saito, H (2010) Advances in the understanding of MYH9 disorders. Curr Opin Hematol 17: pp. 405-410 CrossRef
3. Kunishima, S, Matsushita, T, Kojima, T, Sako, M, Kimura, F, Jo, EK, Inoue, C, Kamiya, T, Saito, H (2003) Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 83: pp. 115-122 CrossRef
4. Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A (2010) Heavy chain myosin 9-related disease ( / MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 103(4):826鈥?32. doi:10.1160/TH09-08-0593
5. Kitamura, K, Yoshida, K, Shiraishi, Y, Chiba, K, Tanaka, H, Furukawa, K, Miyano, S, Ogawa, S, Kunishima, S (2013) Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. J Thromb Haemost 11: pp. 2071-2073 CrossRef
6. Pecci, A, Klersy, C, Gresele, P, Lee, KJ, Rocco, D, Bozzi, V, Russo, G, Heller, PG, Loffredo, G, Ballmaier, M, Fabris, F, Beggiato, E, Kahr, WH, Pujol-Moix, N, Platokouki, H, Geet, C, Noris, P, Yerram, P, Hermans, C, Gerber, B, Economou, M, Groot, M, Zieger, B, 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: pp. 236-247 CrossRef
7. Sekine, T, Konno, M, Sasaki, S, Moritani, S, Miura, T, Wong, WS, Nishio, H, Nishiguchi, T, Ohuchi, MY, Tsuchiya, S, Matsuyama, T, Kanegane, H, Ida, K, Miura, K, Harita, Y, Hattori, M, Horita, S, Igarashi, T, Saito, H, Kunishima, S (2010) Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 78: pp. 207-214 CrossRef
8. Kunishima, S, Yoshinari, M, Nishio, H, Ida, K, Miura, T, Matsushita, T, Hamaguchi, M, Saito, H (2007) Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol 78: pp. 220-226 CrossRef
9. Pecci, A, Granata, A, Fiore, CE, Balduini, CL (2008) Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant 23: pp. 2690-2692 CrossRef
10. Glembotsky, AC, Marta, RF, Pecci, A, Rocco, D, Gnan, C, Espasandin, YR, Goette, NP, Negro, F, Noris, P, Savoia, A, Balduini, CL, Molinas, FC, Heller, PG (2012) International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. J Thromb Haemost 10: pp. 1653-1661 CrossRef - 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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