Linkage between the mechanisms of thrombocytopenia and thrombopoiesis von Eto, Koji, Kunishima, Shinji

Volltext

Advances in the understanding of MYH9 disorders von Kunishima, Shinji, Saito, Hidehiko

Volltext

ACTN1 Mutations Cause Congenital Macrothrombocytopenia von Kunishima, Shinji, Okuno, Yusuke, Yoshida, Kenichi, Shiraishi, Yuichi, Sanada, Masashi, Muramatsu, Hideki, Chiba, Kenichi, Tanaka, Hiroko, Miyazaki, Koji, Sakai, Michio, Ohtake, Masatoshi, Kobayashi, Ryoji, Iguchi, Akihiro, Niimi, Gen, Otsu, Makoto, Takahashi, Yoshiyuki, Miyano, Satoru, Saito, Hidehiko, Kojima, Seiji, Ogawa, Seishi

Volltext

TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia von Kunishima, Shinji, Nishimura, Satoshi, Suzuki, Hidenori, Imaizumi, Masue, Saito, Hidehiko

Volltext

Thrombosis from a Prothrombin Mutation Conveying Antithrombin Resistance von Miyawaki, Yuhri, Suzuki, Atsuo, Fujita, Junko, Maki, Asuka, Okuyama, Eriko, Murata, Moe, Takagi, Akira, Murate, Takashi, Kunishima, Shinji, Sakai, Michio, Okamoto, Kohji, Matsushita, Tadashi, Naoe, Tomoki, Saito, Hidehiko, Kojima, Tetsuhito

Volltext

ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor von Kanamaru, Yuri, Uchiyama, Toru, Kaname, Tadashi, Yanagi, Kumiko, Ohara, Osamu, Kunishima, Shinji, Ishiguro, Akira

Volltext

Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly von Matsumoto, Tae, Yanagihara, Takeshi, Yoshizaki, Kaoru, Tsuchiya, Masami, Terasaki, Mika, Nagahama, Kiyotaka, Shimizu, Akira, Kunishima, Shinji, Maeda, Miho

Volltext

ANKRD26-related thrombocytopenia and myeloid malignancies von Noris, Patrizia, Favier, Remi, Alessi, Marie-Christine, Geddis, Amy E., Kunishima, Shinji, Heller, Paula G., Giordano, Paola, Niederhoffer, Karen Y., Bussel, James B., Podda, Gian Marco, Vianelli, Nicola, Kersseboom, Rogier, Pecci, Alessandro, Gnan, Chiara, Marconi, Caterina, Auvrignon, Anne, Cohen, William, Yu, Jennifer C., Iguchi, Akihiro, Miller Imahiyerobo, Allison, Boehlen, Francoise, Ghalloussi, Dorsaf, De Rocco, Daniela, Magini, Pamela, Civaschi, Elisa, Biino, Ginevra, Seri, Marco, Savoia, Anna, Balduini, Carlo L.

Volltext

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation von Tanaka, Mari, Miki, Sho, Saita, Hirona, Shimada, Hiroki, Nishikawa, Seira, Taniguchi, Keisuke, Hagihara, Koichiro, Iwanari, Sachio, Ikeda, Masaki, Kunishima, Shinji, Takeoka, Hiroya

Volltext

Spectrum of the Mutations in Bernard-Soulier Syndrome von Savoia, Anna, Kunishima, Shinji, De Rocco, Daniela, Zieger, Barbara, Rand, Margaret L., Pujol-Moix, Nuria, Caliskan, Umran, Tokgoz, Huseyin, Pecci, Alessandro, Noris, Patrizia, Srivastava, Alok, Ward, Christopher, Morel-Kopp, Marie-Christine, Alessi, Marie-Christine, Bellucci, Sylvia, Beurrier, Philippe, de Maistre, Emmanuel, Favier, Rémi, Hézard, Nathalie, Hurtaud-Roux, Marie-Françoise, Latger-Cannard, Véronique, Lavenu-Bombled, Cécile, Proulle, Valérie, Meunier, Sandrine, Négrier, Claude, Nurden, Alan, Randrianaivo, Hanitra, Fabris, Fabrizio, Platokouki, Helen, Rosenberg, Nurit, HadjKacem, Basma, Heller, Paula G., Karimi, Mehran, Balduini, Carlo L., Pastore, Annalisa, Lanza, Francois

Volltext

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome von Yamano, Shio, Iguchi, Akihiro, Ishikawa, Kotaro, Sakamoto, Atsushi, Uchiyama, Toru, Yanagi, Kumiko, Kaname, Tadashi, Kunishima, Shinji, Ishiguro, Akira

Volltext

Diagnostic biomarker for ACTN1 macrothrombocytopenia von Kunishima, Shinji, Kitamura, Katsumasa, Yasutomi, Motoko, Kobayashi, Ryoji

Volltext

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

Volltext

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

Volltext

Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling von Hirata, Shinji, Takayama, Naoya, Jono-Ohnishi, Ryoko, Endo, Hiroshi, Nakamura, Sou, Dohda, Takeaki, Nishi, Masanori, Hamazaki, Yuhei, Ishii, Ei-ichi, Kaneko, Shin, Otsu, Makoto, Nakauchi, Hiromitsu, Kunishima, Shinji, Eto, Koji

Volltext

Case Report: MYH9 -related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia von Niwa, Kaori, Toyoda, Hidemi, Kohso, Atsushi, Okumura, Yosuke, Kunishima, Shinji, Hirayama, Masahiro

Volltext

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia von 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

Volltext

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia von Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohshita, Hironori, Negishi, Yutaka, Shinohara, Tsutomu, Hattori, Ayako, Kato, Takenori, Inukai, Sachiko, Kitamura, Katsumasa, Kawai, Tomoki, Ohara, Osamu, Kunishima, Shinji, Saitoh, Shinji

Volltext

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

Volltext

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia von Uchiyama, Yuri, Ogawa, Yoshiyuki, Kunishima, Shinji, Shiina, Masaaki, Nakashima, Mitsuko, Yanagisawa, Kunio, Yokohama, Akihiko, Imagawa, Eri, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Ogata, Kazuhiro, Handa, Hiroshi, Matsumoto, Naomichi

Volltext