Reply to Walsh et al

door Kawai, Tomoki, Hiejima, Eitaro, Oda, Hirotsugu, Izawa, Kazushi, Yasumi, Takahiro, Nishikomori, Ryuta, Okamoto, Shinya, Heike, Toshio
Gepubliceerd in Eur J Hum Genet (2017)

Direct activation of natural killer T cells induces airway hyperreactivity in nonhuman primates

door Matangkasombut, Ponpan, Pichavant, Muriel, Yasumi, Takahiro, Hendricks, Carrie, Savage, Paul B., DeKruyff, Rosemarie H., Umetsu, Dale T.
Gepubliceerd in 2008

Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis

door Iwatani, Sota, Uemura, Kazuya, Mizobuchi, Masami, Yoshimoto, Seiji, Kawasaki, Keiichiro, Kosaka, Yoshiyuki, Hori, Masayuki, Yasumi, Takahiro, Nakao, Hideto
Gepubliceerd in AJP Rep (2015)

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq

door Nakayama, Manabu, Oda, Hirotsugu, Nakagawa, Kenji, Yasumi, Takahiro, Kawai, Tomoki, Izawa, Kazushi, Nishikomori, Ryuta, Heike, Toshio, Ohara, Osamu
Gepubliceerd in Biochem Biophys Rep (2016)

Activation of Nonclassical CD1d-Restricted NK T Cells Induces Airway Hyperreactivity in β(2)-Microglobulin-Deficient Mice()

door Koh, Youngil I., Kim, Hye Young, Meyer, Everett H., Pichavant, Muriel, Akbari, Omid, Yasumi, Takahiro, Savage, Paul B., DeKruyff, Rosemarie H., Umetsu, Dale T.
Gepubliceerd in J Immunol (2008)

Plasma infliximab monitoring contributes to optimize Takayasu arteritis treatment: a case report

door Masui, Sho, Yonezawa, Atsushi, Izawa, Kazushi, Hayakari, Makoto, Asakura, Kayoko, Taniguchi, Risa, Isa, Masahiko, Shibata, Hirofumi, Yasumi, Takahiro, Nishikomori, Ryuta, Takita, Junko, Matsubara, Kazuo
Gepubliceerd in J Pharm Health Care Sci (2019)

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

door Izawa, Kazushi, Hijikata, Atsushi, Tanaka, Naoko, Kawai, Tomoki, Saito, Megumu K, Goldbach-Mansky, Raphaela, Aksentijevich, Ivona, Yasumi, Takahiro, Nakahata, Tatsutoshi, Heike, Toshio, Nishikomori, Ryuta, Ohara, Osamu
Gepubliceerd in 2012

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report

door Hiejima, Eitaro, Yasumi, Takahiro, Nakase, Hiroshi, Matsuura, Minoru, Honzawa, Yusuke, Higuchi, Hirokazu, Okafuji, Ikuo, Yorifuji, Tohru, Tanaka, Takayuki, Izawa, Kazushi, Kawai, Tomoki, Nishikomori, Ryuta, Heike, Toshio
Gepubliceerd in Medicine (Baltimore) (2017)

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

door Nagai, Kozo, Yamamoto, Ken, Fujiwara, Hiroshi, An, Jun, Ochi, Toshiki, Suemori, Koichiro, Yasumi, Takahiro, Tauchi, Hisamichi, Koh, Katsuyoshi, Sato, Maho, Morimoto, Akira, Heike, Toshio, Ishii, Eiichi, Yasukawa, Masaki
Gepubliceerd in 2010

Natural Killer T Cells in the Lungs of Patients with Asthma

door Matangkasombut, Ponpan, Marigowda, Gautham, Ervine, Aaron, Idris, Luaie, Pichavant, Muriel, Kim, Hye Young, Yasumi, Takahiro, Wilson, S. Brian, DeKruyff, Rosemarie H., Faul, John L., Israel, Elliot, Akbari, Omid, Umetsu, Dale T.
Gepubliceerd in 2009

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

door Oda, Hirotsugu, Nakagawa, Kenji, Abe, Junya, Awaya, Tomonari, Funabiki, Masahide, Hijikata, Atsushi, Nishikomori, Ryuta, Funatsuka, Makoto, Ohshima, Yusei, Sugawara, Yuji, Yasumi, Takahiro, Kato, Hiroki, Shirai, Tsuyoshi, Ohara, Osamu, Fujita, Takashi, Heike, Toshio
Gepubliceerd in 2014

Tocilizumab modifies clinical and laboratory features of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

door Shimizu, Masaki, Mizuta, Mao, Okamoto, Nami, Yasumi, Takahiro, Iwata, Naomi, Umebayashi, Hiroaki, Okura, Yuka, Kinjo, Noriko, Kubota, Tomohiro, Nakagishi, Yasuo, Nishimura, Kenichi, Mohri, Mariko, Yashiro, Masato, Yasumura, Junko, Wakiguchi, Hiroyuki, Mori, Masaaki
Gepubliceerd in Pediatr Rheumatol Online J (2020)

Robust and Highly-Efficient Differentiation of Functional Monocytic Cells from Human Pluripotent Stem Cells under Serum- and Feeder Cell-Free Conditions

door Yanagimachi, Masakatsu D., Niwa, Akira, Tanaka, Takayuki, Honda-Ozaki, Fumiko, Nishimoto, Seiko, Murata, Yuuki, Yasumi, Takahiro, Ito, Jun, Tomida, Shota, Oshima, Koichi, Asaka, Isao, Goto, Hiroaki, Heike, Toshio, Nakahata, Tatsutoshi, Saito, Megumu K.
Gepubliceerd in 2013

Clinical features and characteristics of uveitis associated with juvenile idiopathic arthritis in Japan: first report of the pediatric rheumatology association of Japan (PRAJ)

door Yasumura, Junko, Yashiro, Masato, Okamoto, Nami, Shabana, Kosuke, Umebayashi, Hiroaki, Iwata, Naomi, Okura, Yuka, Kubota, Tomohiro, Shimizu, Masaki, Tomiita, Minako, Nakagishi, Yasuo, Nishimura, Kenichi, Hara, Ryoki, Mizuta, Mao, Yasumi, Takahiro, Yamaide, Fumiya, Wakiguchi, Hiroyuki, Kobayashi, Masao, Mori, Masaaki
Gepubliceerd in Pediatr Rheumatol Online J (2019)

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

door 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
Gepubliceerd in Eur J Hum Genet (2016)

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

door Tsumura, Miyuki, Okada, Satoshi, Sakai, Hidemasa, Yasunaga, Shin’ichiro, Ohtsubo, Motoaki, Murata, Takuji, Obata, Hideto, Yasumi, Takahiro, Kong, Xiao-Fei, Abhyankar, Avinash, Heike, Toshio, Nakahata, Tatsutoshi, Nishikomori, Ryuta, Al-Muhsen, Saleh, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, AlZahrani, Mofareh, Shehri, Mohammed Al, ElGhazali, Geyhad, Takihara, Yoshihiro, Kobayashi, Masao
Gepubliceerd in 2012

High Incidence of NLRP3 Somatic Mosaicism in Patients With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome: Results of an International Multicenter Collaborative Study

door Tanaka, Naoko, Izawa, Kazushi, Saito, Megumu K., Sakuma, Mio, Oshima, Koichi, Ohara, Osamu, Nishikomori, Ryuta, Morimoto, Takeshi, Kambe, Naotomo, Goldbach-Mansky, Raphaela, Aksentijevich, Ivona, de Saint Basile, Geneviève, Neven, Bénédicte, van Gijn, Mariëlle, Frenkel, Joost, Aróstegui, Juan I., Yagüe, Jordi, Merino, Rosa, Ibañez, Mercedes, Pontillo, Alessandra, Takada, Hidetoshi, Imagawa, Tomoyuki, Kawai, Tomoki, Yasumi, Takahiro, Nakahata, Tatsutoshi, Heike, Toshio
Gepubliceerd in 2011

Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency

door Boisson, Bertrand, Honda, Yoshitaka, Ajiro, Masahiko, Bustamante, Jacinta, Bendavid, Matthieu, Gennery, Andrew R., Kawasaki, Yuri, Ichishima, Jose, Osawa, Mitsujiro, Nihira, Hiroshi, Shiba, Takeshi, Tanaka, Takayuki, Chrabieh, Maya, Bigio, Benedetta, Hur, Hong, Itan, Yuval, Liang, Yupu, Okada, Satoshi, Izawa, Kazushi, Nishikomori, Ryuta, Ohara, Osamu, Heike, Toshio, Abel, Laurent, Puel, Anne, Saito, Megumu K., Casanova, Jean-Laurent, Hagiwara, Masatoshi, Yasumi, Takahiro
Gepubliceerd in J Clin Invest (2018)