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International Journal of Hematology|December 27, 2025
CYCS-related thrombocytopenia in three Japanese families with a novel variant in one familyNatsuhiko Yamada, Atsushi Sakamoto, Rintaro Nagoshi, et al.
Plos One|August 27, 2013
Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disabilityNobuaki Suzuki, Shinji Kunishima, Makoto Ikejiri, et al.
BMC Biology|October 20, 2018
Microtubule polyglutamylation and acetylation drive microtubule dynamics critical for platelet formationJuliette van Dijk, Guillaume Bompard, Julien Cau, et al.
Journal of Thrombosis and Haemostasis : JTH|September 28, 2021
Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: Communication from the ISTH SSC Subcommittee on Platelet PhysiologyAndrew L Frelinger, José Rivera, David E Connor, et al.
Pediatric Nephrology (Berlin, Germany)|May 15, 2025
Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in JapanRyo Nakatani, Kenichiro Miura, Yoko Shirai, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 18, 2013
Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosisKenichiro Miura, Hidetake Kurihara, Shigeru Horita, et al.
Annals of Hematology|January 31, 2018
A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunctionNaohiro Miyashita, Masahiro Onozawa, Koji Hayasaka, et al.
Nagoya Journal of Medical Science|March 6, 2015
Rhof promotes murine marginal zone B cell developmentMayuko Kishimoto, Takenori Matsuda, Shougo Yanase, et al.
Brain & Development|February 17, 2018
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopeniaDaisuke Ieda, Ikumi Hori, Yuji Nakamura, et al.
The Journal of Clinical Investigation|August 3, 2013
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signalingShinji Hirata, Naoya Takayama, Ryoko Jono-Ohnishi, et al.
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