The first two cases of MYH9 disorders in Thailand: an international collaborative study

被引:5
作者
Sirachainan, Nongnuch [1 ]
Komwilaisak, Patcharee [2 ]
Kitamura, Katsumasa [3 ]
Hongeng, Suradej [1 ]
Sekine, Takashi [4 ]
Kunishima, Shinji [3 ]
机构
[1] Mahidol Univ, Ramathibodi Hosp, Fac Med, Dept Pediat, Bangkok 10400, Thailand
[2] KhonKaen Univ, Srinagarind Hosp, Khon Kaen, Thailand
[3] Natl Hosp Org Nagoya Med Ctr, Clin Res Ctr, Dept Adv Diag, Naka Ku, Nagoya, Aichi 4600001, Japan
[4] Toho Univ, Ohashi Hosp, Sch Med, Dept Pediat, Tokyo, Japan
关键词
IMMUNOFLUORESCENCE ANALYSIS; R702; MUTATIONS; DISEASE; LOCALIZATION;
D O I
10.1007/s00277-014-2234-6
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:707 / 709
页数:3
相关论文
共 10 条
[1]   Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias [J].
Balduini, Carlo L. ;
Pecci, Alessandro ;
Savoia, Anna .
BRITISH JOURNAL OF HAEMATOLOGY, 2011, 154 (02) :161-174
[2]   International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country [J].
Glembotsky, A. C. ;
Marta, R. F. ;
Pecci, A. ;
De Rocco, D. ;
Gnan, C. ;
Espasandin, Y. R. ;
Goette, N. P. ;
Negro, F. ;
Noris, P. ;
Savoia, A. ;
Balduini, C. L. ;
Molinas, F. C. ;
Heller, P. G. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2012, 10 (08) :1653-1661
[3]   Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders [J].
Kitamura, K. ;
Yoshida, K. ;
Shiraishi, Y. ;
Chiba, K. ;
Tanaka, H. ;
Furukawa, K. ;
Miyano, S. ;
Ogawa, S. ;
Kunishima, S. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 (11) :2071-2073
[4]   Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders:: Association of subcellular localization with MYH9 mutations [J].
Kunishima, S ;
Matsushita, T ;
Kojima, T ;
Sako, M ;
Kimura, F ;
Jo, EK ;
Inoue, C ;
Kamiya, T ;
Saito, H .
LABORATORY INVESTIGATION, 2003, 83 (01) :115-122
[5]   Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations [J].
Kunishima, Shinji ;
Yoshinari, Miyako ;
Nishio, Hisanori ;
Ida, Komei ;
Miura, Takuma ;
Matsushita, Tadashi ;
Hamaguchi, Motohiro ;
Saito, Hidehiko .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2007, 78 (03) :220-226
[6]   Advances in the understanding of MYH9 disorders [J].
Kunishima, Shinji ;
Saito, Hidehiko .
CURRENT OPINION IN HEMATOLOGY, 2010, 17 (05) :405-410
[7]   Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome) [J].
Pecci, Alessandro ;
Granata, Antonio ;
Fiore, Carmelo E. ;
Balduini, Carlo L. .
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2008, 23 (08) :2690-2692
[8]   MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations [J].
Pecci, Alessandro ;
Klersy, Catherine ;
Gresele, Paolo ;
Lee, Kieran J. D. ;
De Rocco, Daniela ;
Bozzi, Valeria ;
Russo, Giovanna ;
Heller, Paula G. ;
Loffredo, Giuseppe ;
Ballmaier, Matthias ;
Fabris, Fabrizio ;
Beggiato, Eloise ;
Kahr, Walter H. A. ;
Pujol-Moix, Nuria ;
Platokouki, Helen ;
Van Geet, Christel ;
Noris, Patrizia ;
Yerram, Preethi ;
Hermans, Cedric ;
Gerber, Bernhard ;
Economou, Marina ;
De Groot, Marco ;
Zieger, Barbara ;
De Candia, Erica ;
Fraticelli, Vincenzo ;
Kersseboom, Rogier ;
Piccoli, Giorgina B. ;
Zimmermann, Stefanie ;
Fierro, Tiziana ;
Glembotsky, Ana C. ;
Vianello, Fabrizio ;
Zaninetti, Carlo ;
Nicchia, Elena ;
Guethner, Christiane ;
Baronci, Carlo ;
Seri, Marco ;
Knight, Peter J. ;
Balduini, Carlo L. ;
Savoia, Anna .
HUMAN MUTATION, 2014, 35 (02) :236-247
[9]   Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder [J].
Savoia, Anna ;
De Rocco, Daniela ;
Panza, Emanuele ;
Bozzi, Valeria ;
Scandellari, Raffaella ;
Loffredo, Giuseppe ;
Mumford, Andrew ;
Heller, Paula G. ;
Noris, Patrizia ;
De Groot, Marco R. ;
Giani, Marisa ;
Freddi, Paolo ;
Scognamiglio, Francesca ;
Riondino, Silvia ;
Pujol-Moix, Nuria ;
Fabris, Fabrizio ;
Seri, Marco ;
Balduini, Carlo L. ;
Pecci, Alessandro .
THROMBOSIS AND HAEMOSTASIS, 2010, 103 (04) :826-832
[10]   Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease [J].
Sekine, Takashi ;
Konno, Mutsuko ;
Sasaki, Satoshi ;
Moritani, Suzuko ;
Miura, Takuma ;
Wong, Wai-shan ;
Nishio, Hisanori ;
Nishiguchi, Toshihiro ;
Ohuchi, Miyako Yoshinari ;
Tsuchiya, Shigeru ;
Matsuyama, Takeshi ;
Kanegane, Hirokazu ;
Ida, Komei ;
Miura, Kenichiro ;
Harita, Yutaka ;
Hattori, Motoshi ;
Horita, Shigeru ;
Igarashi, Takashi ;
Saito, Hidehiko ;
Kunishima, Shinji .
KIDNEY INTERNATIONAL, 2010, 78 (02) :207-214