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1.

Diagnostic delay of MYH9-related disorder in Japan.

Sakamoto, Atsushi; Uchiyama, Toru; Kaname, Tadashi; Iguchi, Akihiro; Ohara, Osamu; Ishimura, Masataka; Onum, Masaei; Kunishima, Shinji; Ishiguro, Akira.

Br J Haematol ; 2024 Apr 22.

Artículo en Inglés | MEDLINE | ID: mdl-38650331

2.

A nationwide survey of MYH9-related disease in Japan.

Shirai, Yoko; Miura, Kenichiro; Hamada, Riku; Ishikura, Kenji; Kunishima, Shinji; Hattori, Motoshi.

Clin Exp Nephrol ; 28(1): 40-49, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37733142

3.

Renal injury associated with MYH9 disorder with 5773delG mutation: A case report.

Yoshikawa, Kazuhiro; Kunishima, Shinji; Kurihara, Hidetake; Takahashi, Kei; Fukuta, Azumi; Murai, Kazunori; Echizenya, Taketora; Nakaya, Izaya; Soma, Jun.

Clin Nephrol ; 99(3): 153-160, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36602281

4.

Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.

Tanner, Laura M; Kunishima, Shinji; Lehtinen, Elina; Helin, Tuukka; Volmonen, Kirsi; Lassila, Riitta; Pöyhönen, Minna.

Am J Med Genet A ; 188(6): 1716-1722, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35156755

5.

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.

Natesirinilkul, Rungrote; Sosothikul, Darintr; Komwilaisak, Patcharee; Pongtanakul, Bunchoo; Narkbunnum, Nattee; Yudhasompop, Najwa; Mekjarusgool, Pimsiri; Niparuck, Pimjai; Boonyawat, Kochawan; Kunishima, Shinji; Sirachainan, Nongnuch.

Pediatr Blood Cancer ; 68(7): e29055, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-33855781

6.

GPIbα is required for platelet-mediated hepatic thrombopoietin generation.

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

Blood ; 132(6): 622-634, 2018 08 09.

Artículo en Inglés | MEDLINE | ID: mdl-29794068

7.

Novel ACTN1 variants in cases of thrombocytopenia.

Vincenot, Anne; Saultier, Paul; Kunishima, Shinji; Poggi, Marjorie; Hurtaud-Roux, Marie-Françoise; Roussel, Alain; Schlegel, Nicole; Alessi, Marie-Christine.

Hum Mutat ; 40(12): 2258-2269, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31237726

8.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam, Suthesh; Westbury, Sarah K; Stephens, Jonathan C; Greene, Daniel; Downes, Kate; Kelly, Anne M; Lentaigne, Claire; Astle, William J; Huizinga, Eric G; Nurden, Paquita; Papadia, Sofia; Peerlinck, Kathelijne; Penkett, Christopher J; Perry, David J; Roughley, Catherine; Simeoni, Ilenia; Stirrups, Kathleen; Hart, Daniel P; Tait, R Campbell; Mumford, Andrew D; Laffan, Michael A; Freson, Kathleen; Ouwehand, Willem H; Kunishima, Shinji; Turro, Ernest.

Blood ; 129(4): 520-524, 2017 01 26.

Artículo en Inglés | MEDLINE | ID: mdl-28064200

9.

Microtubule polyglutamylation and acetylation drive microtubule dynamics critical for platelet formation.

van Dijk, Juliette; Bompard, Guillaume; Cau, Julien; Kunishima, Shinji; Rabeharivelo, Gabriel; Mateos-Langerak, Julio; Cazevieille, Chantal; Cavelier, Patricia; Boizet-Bonhoure, Brigitte; Delsert, Claude; Morin, Nathalie.

BMC Biol ; 16(1): 116, 2018 10 18.

Artículo en Inglés | MEDLINE | ID: mdl-30336771

10.

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Uchiyama, Yuri; Yanagisawa, Kunio; Kunishima, Shinji; Shiina, Masaaki; Ogawa, Yoshiyuki; Nakashima, Mitsuko; Hirato, Junko; Imagawa, Eri; Fujita, Atsushi; Hamanaka, Kohei; Miyatake, Satoko; Mitsuhashi, Satomi; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Handa, Hiroshi; Matsumoto, Naomichi; Mizuguchi, Takeshi.

Clin Genet ; 94(6): 548-553, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30051457

11.

Linkage between the mechanisms of thrombocytopenia and thrombopoiesis.

Eto, Koji; Kunishima, Shinji.

Blood ; 127(10): 1234-41, 2016 Mar 10.

Artículo en Inglés | MEDLINE | ID: mdl-26787737

12.

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

Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie-Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W M; Henskens, Yvonne M C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M.

Blood ; 127(23): 2791-803, 2016 06 09.

Artículo en Inglés | MEDLINE | ID: mdl-27084890

13.

Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3.

Komeno, Yukiko; Uchiyama, Toru; Kawano, Fuyuko; Kurihara, Yuya; Kurokawa, Mineo; Ohara, Osamu; Kunishima, Shinji; Ishiguro, Akira.

Ann Hematol ; 102(10): 2947-2949, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37515626

14.

A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbß3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.

Miyashita, Naohiro; Onozawa, Masahiro; Hayasaka, Koji; Yamada, Takahiro; Migita, Ohsuke; Hata, Kenichiro; Okada, Kohei; Goto, Hideki; Nakagawa, Masao; Hashimoto, Daigo; Kahata, Kaoru; Kondo, Takeshi; Kunishima, Shinji; Teshima, Takanori.

Ann Hematol ; 97(4): 629-640, 2018 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-29380037

15.

Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations.

Aoki, Takahiro; Kunishima, Shinji; Yamashita, Yoshiharu; Minamitani, Kanshi; Ota, Setsuo.

J Pediatr Hematol Oncol ; 40(1): 76-78, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-29200148

16.

Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.

Rabbolini, David J; Chun, Yenna; Latimer, Maya; Kunishima, Shinji; Fixter, Kathleen; Valecha, Bhavia; Tan, Peter; Chew, Lee Ping; Kile, Benjamin T; Burt, Rachel; Radhakrishnan, Kottayam; Bird, Robert; Ockelford, Paul; Gabrielli, Sara; Chen, Qiang; Stevenson, William S; Ward, Christopher M; Morel-Kopp, Marie-Christine.

Platelets ; 29(8): 793-800, 2018 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-29090586

17.

Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly.

Kumemura, Masateru; Omae, Takeshi; Kou, Keito; Sakuraba, Sonoko; Niimi, Naoko; Kunishima, Shinji.

J Anesth ; 32(4): 641-644, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29934660

18.

[Congenital thrombocytopenia].

Kunishima, Shinji.

Rinsho Ketsueki ; 59(6): 764-773, 2018.

Artículo en Japonés | MEDLINE | ID: mdl-29973458

19.

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

Muramatsu, Hideki; Okuno, Yusuke; Yoshida, Kenichi; Shiraishi, Yuichi; Doisaki, Sayoko; Narita, Atsushi; Sakaguchi, Hirotoshi; Kawashima, Nozomu; Wang, Xinan; Xu, Yinyan; Chiba, Kenichi; Tanaka, Hiroko; Hama, Asahito; Sanada, Masashi; Takahashi, Yoshiyuki; Kanno, Hitoshi; Yamaguchi, Hiroki; Ohga, Shouichi; Manabe, Atsushi; Harigae, Hideo; Kunishima, Shinji; Ishii, Eiichi; Kobayashi, Masao; Koike, Kenichi; Watanabe, Kenichiro; Ito, Etsuro; Takata, Minoru; Yabe, Miharu; Ogawa, Seishi; Miyano, Satoru; Kojima, Seiji.

Genet Med ; 19(7): 796-802, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28102861

20.

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

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

Blood ; 125(5): 869-72, 2015 Jan 29.

Artículo en Inglés | MEDLINE | ID: mdl-25361813

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