Linkage between the mechanisms of thrombocytopenia and thrombopoiesis

Por Eto, Koji, Kunishima, Shinji
Publicado no Blood (2016)

Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia

Por Kuzmanović Miloš, Kunishima Shinji, Putnik Jovana, Stajić Nataša, Paripović Aleksandra, Bogdanović Radovan
Publicado em 2014-01-01

A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations

Por Kanda, Kenji, Kunishima, Shinji, Sato, Aya, Abe, Daisuke, Nishijima, Setsuko, Ishigami, Tsuyoshi
Publicado no Hum Genome Var (2017)

Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

Por Kashiwagi, Hirokazu, Kunishima, Shinji, Kiyomizu, Kazunobu, Amano, Yoshiro, Shimada, Hiroyuki, Morishita, Masashi, Kanakura, Yuzuru, Tomiyama, Yoshiaki
Publicado em 2013

Splenic Marginal Zone Lymphoma with Acquired von Willebrand Syndrome Diagnosed via Splenic Bleeding

Por Komeno, Yukiko, Shibuya, Naoki, Uryu, Hideki, Yamada, Haruki, Toda, Takeo, Shibasaki, Masayuki, Kunishima, Shinji, Iihara, Kuniko, Ryu, Tomiko
Publicado no Intern Med (2017)

Perinatal Management for a Pregnant Woman with an MYH9 Disorder

Por Yamashita, Yuka, Matsuura, Rei, Kunishima, Shinji, Oikawa, Yoshie, Ariizumi, Hirotsugu, Hamada, Shoko, Shirato, Nahoko, Matsuoka, Ryu, Ogawa, Kohichi, Sekizawa, Akihiko
Publicado no Case Rep Obstet Gynecol (2016)

Establishment of Mouse Model of MYH9 Disorders: Heterozygous R702C Mutation Provokes Macrothrombocytopenia with Leukocyte Inclusion Bodies, Renal Glomerulosclerosis and Hearing Dis...

Por Suzuki, Nobuaki, Kunishima, Shinji, Ikejiri, Makoto, Maruyama, Shoichi, Sone, Michihiko, Takagi, Akira, Ikawa, Masahito, Okabe, Masaru, Kojima, Tetsuhito, Saito, Hidehiko, Naoe, Tomoki, Matsushita, Tadashi
Publicado em 2013

RHOF PROMOTES MURINE MARGINAL ZONE B CELL DEVELOPMENT

Por KISHIMOTO, MAYUKO, MATSUDA, TAKENORI, YANASE, SHOUGO, KATSUMI, AKIRA, SUZUKI, NOBUAKI, IKEJIRI, MAKOTO, TAKAGI, AKIRA, IKAWA, MASAHITO, KOJIMA, TETSUHITO, KUNISHIMA, SHINJI, KIYOI, HITOSHI, NAOE, TOMOKI, MATSUSHITA, TADASHI, MARUYAMA, MITSUO
Publicado no Nagoya J Med Sci (2014)

Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling

Por 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
Publicado em 2013

IL-1α induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needs

Por Nishimura, Satoshi, Nagasaki, Mika, Kunishima, Shinji, Sawaguchi, Akira, Sakata, Asuka, Sakaguchi, Hiroyasu, Ohmori, Tsukasa, Manabe, Ichiro, Italiano, Joseph E., Ryu, Tomiko, Takayama, Naoya, Komuro, Issei, Kadowaki, Takashi, Eto, Koji, Nagai, Ryozo
Publicado no J Cell Biol (2015)

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

Por 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
Publicado no Blood (2015)

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

Por 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
Publicado em 2013

Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function

Por Oda, Hirotsugu, Sato, Tatsuhiro, Kunishima, Shinji, Nakagawa, Kenji, Izawa, Kazushi, Hiejima, Eitaro, Kawai, Tomoki, Yasumi, Takahiro, Doi, Hiraku, Katamura, Kenji, Numabe, Hironao, Okamoto, Shinya, Nakase, Hiroshi, Hijikata, Atsushi, Ohara, Osamu, Suzuki, Hidenori, Morisaki, Hiroko, Morisaki, Takayuki, Nunoi, Hiroyuki, Hattori, Seisuke, Nishikomori, Ryuta, Heike, Toshio
Publicado no Eur J Hum Genet (2016)

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

Por Noris, Patrizia, Biino, Ginevra, Pecci, Alessandro, Civaschi, Elisa, Savoia, Anna, Seri, Marco, Melazzini, Federica, Loffredo, Giuseppe, Russo, Giovanna, Bozzi, Valeria, Notarangelo, Lucia Dora, Gresele, Paolo, Heller, Paula G., Pujol-Moix, Nuria, Kunishima, Shinji, Cattaneo, Marco, Bussel, James, De Candia, Erica, Cagioni, Claudia, Ramenghi, Ugo, Barozzi, Serena, Fabris, Fabrizio, Balduini, Carlo L.
Publicado em 2014

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Por Buitrago, Lorena, Rendon, Augusto, Liang, Yupu, Simeoni, Ilenia, Negri, Ana, Filizola, Marta, Ouwehand, Willem H., Coller, Barry S., Alessi, Marie-Christine, Ballmaier, Matthias, Bariana, Tadbir, Bellissimo, Daniel, Bertoli, Marta, Bray, Paul, Bury, Loredana, Carrell, Robin, Cattaneo, Marco, Collins, Peter, French, Deborah, Favier, Remi, Freson, Kathleen, Furie, Bruce, Germeshausen, Manuela, Ghevaert, Cedric, Gomez, Keith, Goodeve, Anne, Gresele, Paolo, Guerrero, Jose, Hampshire, Dan J., Hadinnapola, Charaka, Heemskerk, Johan, Henskens, Yvonne, Hill, Marian, Hogg, Nancy, Johnsen, Jill, Kahr, Walter, Kerr, Ron, Kunishima, Shinji, Laffan, Michael, Natwani, Amit, Neerman-Arbez, Marguerite, Nurden, Paquita, Nurden, Alan, Ormiston, Mark, Othman, Maha, Ouwehand, Willem, Perry, David, Vilk, Shoshana Ravel, Reitsma, Pieter, Rondina, Matthew, Simeoni, Ilenia, Smethurst, Peter, Stephens, Jonathan, Stevenson, William, Szkotak, Artur, Turro, Ernest, Van Geet, Christel, Vries, Minka, Ward, June, Waye, John, Westbury, Sarah, Whiteheart, Sidney, Wilcox, David, Zhang, Bi
Publicado no Proc Natl Acad Sci U S A (2015)

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

Por 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., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Turro, Ernest
Publicado no Blood (2016)