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🐜
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High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
26 auth.
Naoko Tanaka,
K. Izawa,
M. Saito,
M. Sakuma,
K. Oshima,
O. Ohara,
R. Nishikomori,
T. Morimoto,
N. Kambe,
R. Goldbach-Mansky,
I. Aksentijevich,
G. de Saint Basile,
B. Neven,
M. V. van Gijn,
J. Frenkel,
...
J. Aróstegui,
J. Yagüe,
R. Merino,
Mercedes Ibáñez,
A. Pontillo,
H. Takada,
T. Imagawa,
T. Kawai,
T. Yasumi,
T. Nakahata,
T. Heike
|
8 |
2011 |
8
🐜
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|
🦁
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Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection
16 auth.
K. Izawa,
Emmanuel Martin,
C. Soudais,
J. Bruneau,
D. Boutboul,
Rémy Rodriguez,
C. Lenoir,
A. Hislop,
C. Besson,
F. Touzot,
...
C. Picard,
I. Callebaut,
J. de Villartay,
D. Moshous,
A. Fischer,
S. Latour
|
6 |
2017 |
6
🦁
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|
🐜
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
40 auth.
K. Nakagawa,
E. González-Roca,
A. Souto,
T. Kawai,
H. Umebayashi,
J. Campistol,
J. Cañellas,
S. Takei,
N. Kobayashi,
J. Callejas-Rubio,
N. Ortego-Centeno,
E. Ruíz-Ortiz,
F. Rius,
J. Antón,
E. Iglesias,
...
S. Jiménez-Treviño,
C. Vargas,
J. Fernández-Martín,
I. Calvo,
J. Hernández-Rodríguez,
M. Méndez,
M. T. Dordal,
M. Basagaña,
S. Buján,
M. Yashiro,
T. Kubota,
R. Koike,
Naoko Akuta,
Kumiko Shimoyama,
N. Iwata,
M. Saito,
O. Ohara,
N. Kambe,
T. Yasumi,
K. Izawa,
T. Kawai,
T. Heike,
J. Yagüe,
R. Nishikomori,
J. Aróstegui
|
6 |
2015 |
6
🐜
|
|
🐜
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Real-time single-cell imaging of protein secretion
11 auth.
Y. Shirasaki,
M. Yamagishi,
N. Suzuki,
K. Izawa,
A. Nakahara,
J. Mizuno,
...
S. Shoji,
T. Heike,
Y. Harada,
R. Nishikomori,
O. Ohara
|
6 |
2014 |
6
🐜
|
|
🐜
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STING signalling is terminated through ESCRT-dependent microautophagy of vesicles originating from recycling endosomes
24 auth.
Yoshihiko Kuchitsu,
Kojiro Mukai,
Rei Uematsu,
Yuki Takaada,
Ayumi Shinojima,
Ruri Shindo,
Tsumugi Shoji,
Shiori Hamano,
Emari Ogawa,
Ryota Sato,
...
K. Miyake,
Akihisa Kato,
Y. Kawaguchi,
M. Nishitani-Isa,
K. Izawa,
R. Nishikomori,
T. Yasumi,
Takehiro Suzuki,
N. Dohmae,
Takefumi Uemura,
G. Barber,
H. Arai,
S. Waguri,
T. Taguchi
|
6 |
2023 |
6
🐜
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🐜
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Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells
17 auth.
Rémy Rodriguez,
B. Fournier,
D. J. Cordeiro,
Sarah Winter,
K. Izawa,
Emmanuel Martin,
D. Boutboul,
C. Lenoir,
S. Fraitag,
S. Kracker,
...
T. Watts,
C. Picard,
J. Bruneau,
I. Callebaut,
A. Fischer,
B. Neven,
S. Latour
|
5 |
2019 |
5
🐜
|
|
🦁
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Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing
12 auth.
K. Izawa,
A. Hijikata,
Naoko Tanaka,
T. Kawai,
M. Saito,
R. Goldbach-Mansky,
...
I. Aksentijevich,
T. Yasumi,
T. Nakahata,
T. Heike,
R. Nishikomori,
O. Ohara
|
5 |
2012 |
5
🦁
|
|
🐜
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Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation
33 auth.
T. Matsuda,
N. Kambe,
Y. Ueki,
N. Kanazawa,
K. Izawa,
Y. Honda,
A. Kawakami,
S. Takei,
Kyoko Tonomura,
M. Inoue,
Hiroko Kobayashi,
I. Okafuji,
Y. Sakurai,
Naoki Kato,
Yuta Maruyama,
...
Y. Inoue,
Yoshikazu Otsubo,
T. Makino,
S. Okada,
I. Kobayashi,
M. Yashiro,
Shusaku Ito,
H. Fujii,
Y. Kondo,
N. Okamoto,
S. Ito,
N. Iwata,
U. Kaneko,
M. Doi,
J. Hosokawa,
O. Ohara,
M. Saito,
R. Nishikomori
|
5 |
2020 |
5
🐜
|
|
🐜
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Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein.
16 auth.
Yuuki Murata,
T. Yasumi,
R. Shirakawa,
K. Izawa,
Hidemasa Sakai,
J. Abe,
Naoko Tanaka,
T. Kawai,
K. Oshima,
M. Saito,
...
R. Nishikomori,
O. Ohara,
E. Ishii,
T. Nakahata,
H. Horiuchi,
T. Heike
|
5 |
2011 |
5
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