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Journal Articles

αIIb(R990W), a Gain-of Function Mutation of αIIbβ3, Knock-in Mice Show Moderately Impaired Thrombopoiesis

Keigo Akuta, Kazunobu Kiyomizu, MD, Hirokazu Kashiwagi, Shinji Kunishima, PhD, Fumiaki Banno, Koichi Kokame, Nobuko Nishiura, Hisashi Kato, MD PhD, Shigenori Honda, MD, Yuzuru Kanakura, MD PhD, Toshiyuki Miyata, Yoshiaki Tomiyama, MD

Blood (2018) 132 (Supplement 1): 3743.

https://doi.org/10.1182/blood-2018-99-115953

Published: 2018

Journal Articles

A Novel Cycs Missense Mutation in the α-Helix of the Cycs C-Terminal Domain Causes Non-Syndromic Thrombocytopenia

Yuri Uchiyama, MD PhD, Kunio Yanagisawa, MD PhD, Shinji Kunishima, PhD, Masaaki Shiina, MD PhD, Yoshiyuki Ogawa, MD PhD, Mitsuko Nakashima, MD PhD, Satoko Miyatake, MD PhD, Satomi Mitsuhashi, MD PhD, Atsushi Takata, MD PhD, Noriko Miyake, MD PhD, Kazuhiro Ogata, MD PhD, Hiroshi Handa, MD PhD, Naomichi Matsumoto, MD PhD, Takeshi Mizuguchi, MD PhD

Blood (2018) 132 (Supplement 1): 3758.

https://doi.org/10.1182/blood-2018-99-114729

Published: 2018

Journal Articles

GPIbα is required for platelet-mediated hepatic thrombopoietin generation

Miao Xu, June Li, Miguel Antonio Dias Neves, Guangheng Zhu, Naadiya Carrim, Ruoying Yu, Sahil Gupta, John Marshall, Ori Rotstein, Jun Peng, Ming Hou, Shinji Kunishima, Jerry Ware, Donald R. Branch, Alan H. Lazarus, Zaverio M. Ruggeri, John Freedman, Heyu Ni

Blood (2018) 132 (6): 622–634.

https://doi.org/10.1182/blood-2017-12-820779

Published: 2018

Includes: Supplemental data

Journal Articles

Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes

Blood (2017) 130 (Supplement 1): 2468.

https://doi.org/10.1182/blood.V130.Suppl_1.2468.2468

Published: 2017

Journal Articles

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Blood (2017) 129 (4): 520–524.

https://doi.org/10.1182/blood-2016-08-732248

Published: 2017

Includes: Supplemental data

Journal Articles

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

Journal Articles

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis

Koji Eto, Shinji Kunishima

Blood (2016) 127 (10): 1234–1241.

https://doi.org/10.1182/blood-2015-07-607903

Published: 2016

Includes: Supplemental data

Journal Articles

Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia

Katsumasa Kitamura, MD, Yusuke Okuno, MD PhD, Kenichi Yoshida, MD PhD, Masashi Sanada, MD PhD, Yuichi Shiraishi, MD PhD, Hideki Muramatsu, MD PhD, Ryoji Kobayashi, MD PhD, Satoru Miyano, MD PhD, Seiji Kojima, MD PhD, Seishi Ogawa, MD PhD, Shinji Kunishima, PhD

Blood (2015) 126 (23): 75.

https://doi.org/10.1182/blood.V126.23.75.75

Published: 2015

Journal Articles

Diagnostic biomarker for ACTN1 macrothrombocytopenia

Shinji Kunishima, Katsumasa Kitamura, Motoko Yasutomi, Ryoji Kobayashi

Blood (2015) 126 (22): 2525–2526.

https://doi.org/10.1182/blood-2015-08-666180

Published: 2015

Journal Articles

ACTN1 -related thrombocytopenia: identification of novel families for phenotypic characterization

Roberta Bottega, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci, Ugo Ramenghi, Simonetta Pardini, Loretta Ngu, Carlo Baronci, Shinji Kunishima, Carlo L. Balduini, Marco Seri, Anna Savoia, Patrizia Noris

Blood (2015) 125 (5): 869–872.

https://doi.org/10.1182/blood-2014-08-594531

Published: 2015

Includes: Supplemental data

Journal Articles

αIIb(R990W), a Constitutive Activating Mutation of Integrin αIIbβ3, Knock-in Mice Show Macrothrombocytopenia with Impairment of Platelet Function

Kazunobu Kiyomizu, Hirokazu Kashiwagi, Shinji Kunishima, PhD, Fumiaki Banno, PhD, Hisashi Kato, Youichiro Morikawa, Seiji Tadokoro, Koichi Kokame, PhD, Shigenori Honda, MD PhD, Toshiyuki Miyata, PhD, Yuzuru Kanakura, Yoshiaki Tomiyama

Blood (2014) 124 (21): 4182.

https://doi.org/10.1182/blood.V124.21.4182.4182

Published: 2014

Journal Articles

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

Blood (2014) 124 (6): e4–e10.

https://doi.org/10.1182/blood-2014-03-564328

Published: 2014

Journal Articles

ANKRD26 -related thrombocytopenia and myeloid malignancies

Blood (2013) 122 (11): 1987–1989.

https://doi.org/10.1182/blood-2013-04-499319

Published: 2013

Journal Articles

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Yoshiyuki Kobayashi, MD, Hirotaka Matsui, MD, Akinori Kanai, PhD, Miyuki Tsumura, MSc, Satoshi Okada, MD, PhD, Mizuka Miki, MD, Kazuhiro Nakamura, MD, PhD, Shinji Kunishima, PhD, Toshiya Inaba, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2012) 120 (21): 1081.

https://doi.org/10.1182/blood.V120.21.1081.1081

Published: 2012

Journal Articles

International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome

Anna Savoia, PhD, Shinji Kunishima, PhD, Patrizia Noris, MD, Nuria Pujol-Moix, MD, Dermot Kenny, MD, Nurit Rosenberg, Margaret L. Rand, PhD, Barbara Zieger, MD, Ali F. Gargouri, PhD, Miriam P Beltrame, Felisa C. Molinas, MD, PhD, Mehran Karimi, MD, Christopher Ward, MB, CHB, PhD, Philip Kuriakose, MD, Nadia Ewing, MD, Carol Diamond, MD, Alok Srivastava, MD, Carlo Luigi Balduini, MD, Francois Lanza, PhD, MD

Blood (2011) 118 (21): 707.

https://doi.org/10.1182/blood.V118.21.707.707

Published: 2011

Journal Articles

Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression

Chiara Gnan, MSc, Patrizia Noris, MD, Felisa C. Molinas, MD, PhD, Shinji Kunishima, PhD, Paula Graciela Heller, M.D., Ph.D, Akihiro Iguchi, MD, PhD, Alessandro Pecci, MD, Erica Valencic, PhD, Seri Marco, MD, Silverio Perrotta, MD, Carlo Luigi Balduini, MD, Anna Savoia, PhD

Blood (2011) 118 (21): 708.

https://doi.org/10.1182/blood.V118.21.708.708

Published: 2011

Journal Articles

Modeling Congenital Amegakaryocytic Thrombocytopenia Using Patient-Specific Induced Pluripotent Stem Cells

Naoya Takayama, M.D., Ph.D., Shinji Hirata, Ryoko Jono-Ohnishi, Sou Nakamura, Sho-ichi Hirose, Hiroshi Endo, M.D., Masanori Nishi, MD, Yuhei Hamazaki, Shin Kaneko, M.D., Ph.D., Eiichi Ishii, MD, PhD, Hiromitsu Nakauchi, MD, PhD, Shinji Kunishima, PhD, Koji Eto, M.D., Ph.D.

Blood (2011) 118 (21): 703.

https://doi.org/10.1182/blood.V118.21.703.703

Published: 2011

Journal Articles

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

Shinji Kunishima, Hirokazu Kashiwagi, Makoto Otsu, Naoya Takayama, Koji Eto, Masafumi Onodera, Yuji Miyajima, Yasushi Takamatsu, Junji Suzumiya, Kousaku Matsubara, Yoshiaki Tomiyama, Hidehiko Saito

Blood (2011) 117 (20): 5479–5484.

https://doi.org/10.1182/blood-2010-12-323691

Published: 2011

Includes: Supplemental data

Journal Articles

R702C Mutation of the MYH9 Gene Provokes Impaired Platelet Formation, Renal Focal Segmental Glomerulosclerosis, and Hearing Disability In the Mice Model

Nobuaki Suzuki, Shinji Kunishima, PhD, Makoto Ikejiri, Shoichi Maruyama, MD, PhD, Michihiko Sone, MD, PhD, Akira Takagi, Kanji Hirashima, Masahito Ikawa, Masaru Okabe, Tetsuhito Kojima, MD, PhD, Hidehiko Saito, MD, Tomoki Naoe, MD, PhD, Tadashi Matsushita, MD, PhD

Blood (2010) 116 (21): 482.

https://doi.org/10.1182/blood.V116.21.482.482

Published: 2010

Journal Articles

Response:W318 β1-tubulin and macrothrombocytopenia

Shinji Kunishima, Hidehiko Saito

Blood (2009) 114 (2): 492–493.

https://doi.org/10.1182/blood-2009-05-218495

Published: 2009

NARROW

αIIb(R990W), a Gain-of Function Mutation of αIIbβ3, Knock-in Mice Show Moderately Impaired Thrombopoiesis

A Novel Cycs Missense Mutation in the α-Helix of the Cycs C-Terminal Domain Causes Non-Syndromic Thrombocytopenia

GPIbα is required for platelet-mediated hepatic thrombopoietin generation

Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis

Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia

Diagnostic biomarker for ACTN1 macrothrombocytopenia

ACTN1 -related thrombocytopenia: identification of novel families for phenotypic characterization

αIIb(R990W), a Constitutive Activating Mutation of Integrin αIIbβ3, Knock-in Mice Show Macrothrombocytopenia with Impairment of Platelet Function

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

ANKRD26 -related thrombocytopenia and myeloid malignancies

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome

Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression

Modeling Congenital Amegakaryocytic Thrombocytopenia Using Patient-Specific Induced Pluripotent Stem Cells

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

R702C Mutation of the MYH9 Gene Provokes Impaired Platelet Formation, Renal Focal Segmental Glomerulosclerosis, and Hearing Disability In the Mice Model

Response:W318 β1-tubulin and macrothrombocytopenia

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American Society of Hematology

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