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The New England Journal of Medicine|June 22, 2012
Thrombosis from a prothrombin mutation conveying antithrombin resistanceYuhri Miyawaki, Atsuo Suzuki, Junko Fujita, et al.
The Journal of Cell Biology|May 13, 2015
IL-1α induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needsSatoshi Nishimura, Mika Nagasaki, Shinji Kunishima, et al.
Blood|November 2, 2014
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterizationRoberta Bottega, Caterina Marconi, Michela Faleschini, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, et al.
British Journal of Haematology|September 15, 2025
Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopeniaAtsushi Sakamoto, Toru Uchiyama, Kazuhiko Nakabayashi, et al.
Blood|May 26, 2018
GPIbα is required for platelet-mediated hepatic thrombopoietin generationMiao Xu, June Li, Miguel Antonio Dias Neves, et al.
Biochemical and Biophysical Research Communications|November 24, 2004
Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO miceTadashi Matsushita, Hideo Hayashi, Shinji Kunishima, et al.
American Journal of Human Genetics|February 26, 2013
ACTN1 mutations cause congenital macrothrombocytopeniaShinji Kunishima, Yusuke Okuno, Kenichi Yoshida, et al.
Kidney International|March 5, 2010
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal diseaseTakashi Sekine, Mutsuko Konno, Satoshi Sasaki, et al.
Platelets|November 2, 2017
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopeniaDavid J Rabbolini, Yenna Chun, Maya Latimer, et al.
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