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The predictive prognostic factors for polymyositis/dermatomyositis-associated interstitial lung disease.
Published in:
Arthritis Research & Therapy, 2018, v. 20, p. 1, doi. 10.1186/s13075-017-1506-7
By:
- Sugiyama, Yumiko;
- Yoshimi, Ryusuke;
- Tamura, Maasa;
- Takeno, Mitsuhiro;
- Kunishita, Yosuke;
- Kishimoto, Daiga;
- Yoshioka, Yuji;
- Kobayashi, Kouji;
- Takase-Minegishi, Kaoru;
- Watanabe, Toshiyuki;
- Hamada, Naoki;
- Nagai, Hideto;
- Tsuchida, Naomi;
- Soejima, Yutaro;
- Nakano, Hiroto;
- Kamiyama, Reikou;
- Uehara, Takeaki;
- Kirino, Yohei;
- Sekiguchi, Akiko;
- Ihata, Atsushi
Publication type:
Article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Published in:
2021
By:
- Mizuguchi, Takeshi;
- Toyota, Tomoko;
- Miyatake, Satoko;
- Mitsuhashi, Satomi;
- Doi, Hiroshi;
- Kudo, Yosuke;
- Kishida, Hitaru;
- Hayashi, Noriko;
- Tsuburaya, Rie S;
- Kinoshita, Masako;
- Fukuyama, Tetsuhiro;
- Fukuda, Hiromi;
- Koshimizu, Eriko;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Fujita, Atsushi;
- Takata, Atsushi;
- Miyake, Noriko;
- Kato, Mitsuhiro;
- Tanaka, Fumiaki
Publication type:
corrected article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Published in:
2021
By:
- Mizuguchi, Takeshi;
- Toyota, Tomoko;
- Miyatake, Satoko;
- Mitsuhashi, Satomi;
- Doi, Hiroshi;
- Kudo, Yosuke;
- Kishida, Hitaru;
- Hayashi, Noriko;
- Tsuburaya, Rie S;
- Kinoshita, Masako;
- Fukuyama, Tetsuhiro;
- Fukuda, Hiromi;
- Koshimizu, Eriko;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Fujita, Atsushi;
- Takata, Atsushi;
- Miyake, Noriko;
- Kato, Mitsuhiro;
- Tanaka, Fumiaki
Publication type:
journal article
Monogenic causes of pigmentary mosaicism.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1771, doi. 10.1007/s00439-022-02437-w
By:
- Saida, Ken;
- Chong, Pin Fee;
- Yamaguchi, Asuka;
- Saito, Naka;
- Ikehara, Hajime;
- Koshimizu, Eriko;
- Miyata, Rie;
- Ishiko, Akira;
- Nakamura, Kazuyuki;
- Ohnishi, Hidenori;
- Fujioka, Kei;
- Sakakibara, Takafumi;
- Asada, Hideo;
- Ogawa, Kohei;
- Kudo, Kyoko;
- Ohashi, Eri;
- Kawai, Michiko;
- Abe, Yuichi;
- Tsuchida, Naomi;
- Uchiyama, Yuri
Publication type:
Article
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Published in:
Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7
By:
- Hamanaka, Kohei;
- Miyoshi, Keita;
- Sun, Jia-Hui;
- Hamada, Keisuke;
- Komatsubara, Takao;
- Saida, Ken;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Fujita, Atsushi;
- Mizuguchi, Takeshi;
- Gerard, Benedicte;
- Bayat, Allan;
- Rinaldi, Berardo;
- Kato, Mitsuhiro;
- Tohyama, Jun;
- Ogata, Kazuhiro;
- Shi, Yun Stone;
- Saito, Kuniaki;
- Miyatake, Satoko;
- Matsumoto, Naomichi
Publication type:
Article
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36381-0
By:
- Seyama, Rie;
- Nishikawa, Masashi;
- Uchiyama, Yuri;
- Hamada, Keisuke;
- Yamamoto, Yuka;
- Takeda, Masahiro;
- Ochi, Takanori;
- Kishi, Monami;
- Suzuki, Toshifumi;
- Hamanaka, Kohei;
- Fujita, Atsushi;
- Tsuchida, Naomi;
- Koshimizu, Eriko;
- Misawa, Kazuharu;
- Miyatake, Satoko;
- Mizuguchi, Takeshi;
- Makino, Shintaro;
- Yao, Takashi;
- Ito, Hidenori;
- Itakura, Atsuo
Publication type:
Article
Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes.
Published in:
2023
By:
- Itai, Toshiyuki;
- Sugie, Atsushi;
- Nitta, Yohei;
- Maki, Ryuto;
- Suzuki, Takashi;
- Shinkai, Yoichi;
- Watanabe, Yoshihiro;
- Nakano, Yusuke;
- Ichikawa, Kazushi;
- Okamoto, Nobuhiko;
- Utsuno, Yasuhiro;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Miyake, Noriko;
- Misawa, Kazuharu;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
Correction Notice
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27770-6
By:
- Itai, Toshiyuki;
- Sugie, Atsushi;
- Nitta, Yohei;
- Maki, Ryuto;
- Suzuki, Takashi;
- Shinkai, Yoichi;
- Watanabe, Yoshihiro;
- Nakano, Yusuke;
- Ichikawa, Kazushi;
- Okamoto, Nobuhiko;
- Utsuno, Yasuhiro;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Miyake, Noriko;
- Misawa, Kazuharu;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
Article
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27770-6
By:
- Itai, Toshiyuki;
- Sugie, Atsushi;
- Nitta, Yohei;
- Maki, Ryuto;
- Suzuki, Takashi;
- Shinkai, Yoichi;
- Watanabe, Yoshihiro;
- Nakano, Yusuke;
- Ichikawa, Kazushi;
- Okamoto, Nobuhiko;
- Utsuno, Yasuhiro;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Miyake, Noriko;
- Misawa, Kazuharu;
- Mizuguchi, Takeshi;
- Miyatake, Satoko
Publication type:
Article
Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan.
Published in:
2022
By:
- Kunishita, Yosuke;
- Kirino, Yohei;
- Tsuchida, Naomi;
- Maeda, Ayaka;
- Sato, Yuichiro;
- Takase-Minegishi, Kaoru;
- Yoshimi, Ryusuke;
- Nakajima, Hideaki
Publication type:
Case Study
Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.897722
By:
- Matsumoto, Haruki;
- Fujita, Yuya;
- Fukatsu, Masahiko;
- Ikezoe, Takayuki;
- Yokose, Kohei;
- Asano, Tomoyuki;
- Tsuchida, Naomi;
- Maeda, Ayaka;
- Yoshida, Shuhei;
- Hashimoto, Honami;
- Temmoku, Jumpei;
- Matsuoka, Naoki;
- Yashiro-Furuya, Makiko;
- Sato, Shuzo;
- Murakami, Mai;
- Sato, Hidenori;
- Sakuma, Chiharu;
- Kawashima, Kazumasa;
- Shakespear, Norshalena;
- Uchiyama, Yuri
Publication type:
Article
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w
By:
- Hamanaka, Kohei;
- Miyake, Noriko;
- Mizuguchi, Takeshi;
- Miyatake, Satoko;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Sekiguchi, Futoshi;
- Mitsuhashi, Satomi;
- Tsurusaki, Yoshinori;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo;
- Yamada, Kohei;
- Sakamoto, Masamune;
- Fukuda, Hiromi;
- Ohori, Sachiko;
- Saida, Ken;
- Itai, Toshiyuki;
- Azuma, Yoshiteru;
- Koshimizu, Eriko;
- Fujita, Atsushi
Publication type:
Article
Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report.
Published in:
Modern Rheumatology Case Reports, 2024, v. 8, n. 1, p. 199, doi. 10.1093/mrcr/rxad041
By:
- Miyoshi, Yuji;
- Kise, Takayasu;
- Morita, Kaoru;
- Okada, Haruka;
- Imadome, Ken-Ichi;
- Tsuchida, Naomi;
- Maeda, Ayaka;
- Uchiyama, Yuri;
- Kirino, Yohei;
- Matsumoto, Naomichi;
- Yokogawa, Naoto
Publication type:
Article
Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome.
Published in:
Modern Rheumatology Case Reports, 2023, v. 7, n. 1, p. 327, doi. 10.1093/mrcr/rxac082
By:
- Yamaguchi, Hiroki;
- Kobayashi, Daisuke;
- Nakamura, Gen;
- Aida, Ryo;
- Horii, Yosuke;
- Okamoto, Takeshi;
- Murakami, Shuichi;
- Kondo, Daisuke;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Maeda, Ayaka;
- Kirino, Yohei;
- Matsumoto, Naomichi;
- Kurosawa, Yoichi;
- Hasegawa, Eriko;
- Wakamatsu, Ayako;
- Narita, Ichiei
Publication type:
Article
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
Published in:
Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01192-5
By:
- Fukuda, Hiromi;
- Yamaguchi, Daisuke;
- Nyquist, Kristofor;
- Yabuki, Yasushi;
- Miyatake, Satoko;
- Uchiyama, Yuri;
- Hamanaka, Kohei;
- Saida, Ken;
- Koshimizu, Eriko;
- Tsuchida, Naomi;
- Fujita, Atsushi;
- Mitsuhashi, Satomi;
- Ohbo, Kazuyuki;
- Satake, Yuki;
- Sone, Jun;
- Doi, Hiroshi;
- Morihara, Keisuke;
- Okamoto, Tomoko;
- Takahashi, Yuji;
- Wenger, Aaron M.
Publication type:
Article
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00331-y
By:
- Miyatake, Satoko;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Doi, Hiroshi;
- Okubo, Masaki;
- Wada, Taishi;
- Hamanaka, Kohei;
- Ueda, Naohisa;
- Kishida, Hitaru;
- Minase, Gaku;
- Matsuno, Atsuhiro;
- Kodaira, Minori;
- Ogata, Katsuhisa;
- Kato, Rumiko;
- Sugiyama, Atsuhiko;
- Sasaki, Ayako;
- Miyama, Takabumi;
- Satoh, Mai;
- Uchiyama, Yuri;
- Tsuchida, Naomi
Publication type:
Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9
By:
- Takata, Atsushi;
- Nakashima, Mitsuko;
- Saitsu, Hirotomo;
- Mizuguchi, Takeshi;
- Mitsuhashi, Satomi;
- Takahashi, Yukitoshi;
- Okamoto, Nobuhiko;
- Osaka, Hitoshi;
- Nakamura, Kazuyuki;
- Tohyama, Jun;
- Haginoya, Kazuhiro;
- Takeshita, Saoko;
- Kuki, Ichiro;
- Okanishi, Tohru;
- Goto, Tomohide;
- Sasaki, Masayuki;
- Sakai, Yasunari;
- Miyake, Noriko;
- Miyatake, Satoko;
- Tsuchida, Naomi
Publication type:
Article
Dose down‐titration of biological disease‐modifying antirheumatic drugs in daily clinical practice: Shared decision‐making and patient treatment preferences in Japanese patients with rheumatoid arthritis.
Published in:
International Journal of Rheumatic Diseases, 2019, v. 22, n. 11, p. 2009, doi. 10.1111/1756-185X.13692
By:
- Komiya, Takaaki;
- Takase‐Minegishi, Kaoru;
- Sakurai, Natsuki;
- Nagai, Hideto;
- Hamada, Naoki;
- Soejima, Yutaro;
- Sugiyama, Yumiko;
- Tsuchida, Naomi;
- Kunishita, Yosuke;
- Kishimoto, Daiga;
- Kobayashi, Kouji;
- Kamiyama, Reikou;
- Yoshimi, Ryusuke;
- Kirino, Yohei;
- Ohno, Shigeru;
- Nakajima, Hideaki
Publication type:
Article
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Published in:
Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
By:
- Sachiko Ohori;
- Akihiko Miyauchi;
- Hitoshi Osaka;
- Lourenco, Charles Marques;
- Naohiro Arakaki;
- Toru Sengoku;
- Kazuhiro Ogata;
- Rachel Sayuri Honjo;
- Chong Ae Kim;
- Satomi Mitsuhashi;
- Frith, Martin C.;
- Rie Seyama;
- Naomi Tsuchida;
- Yuri Uchiyama;
- Eriko Koshimizu;
- Kohei Hamanaka;
- Kazuharu Misawa;
- Satoko Miyatake;
- Takeshi Mizuguchi;
- Kuniaki Saito
Publication type:
Article
Protective effect of hydroxychloroquine on infections in patients with systemic lupus erythematosus: an observational study using the LUNA registry.
Published in:
Frontiers in Immunology, 2023, p. 01, doi. 10.3389/fimmu.2023.1227403
By:
- Chiharu Hidekawa;
- Ryusuke Yoshimi;
- Yusuke Saigusa;
- Jun Tamura;
- Noriko Kojitani;
- Naoki Suzuki;
- Natsuki Sakurai;
- Yuji Yoshioka;
- Yumiko Sugiyama-Kawahara;
- Yosuke Kunishita;
- Daiga Kishimoto;
- Kana Higashitani;
- Yuichiro Sato;
- Takaaki Komiya;
- Hideto Nagai;
- Naoki Hamada;
- Ayaka Maeda;
- Naomi Tsuchida;
- Lisa Hirahara;
- Yutaro Soejima
Publication type:
Article
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.
Published in:
PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221482
By:
- Nakamura, Yuji;
- Kato, Kohji;
- Tsuchida, Naomi;
- Matsumoto, Naomichi;
- Takahashi, Yoshiyuki;
- Saitoh, Shinji
Publication type:
Article
A case of VEXAS syndrome with Sweet's disease and pulmonary involvement.
Published in:
Journal of Dermatology, 2022, v. 49, n. 5, p. e177, doi. 10.1111/1346-8138.16311
By:
- Matsubara, Akihiro;
- Tsuchida, Naomi;
- Sakurai, Mai;
- Maeda, Ayaka;
- Uchiyama, Yuri;
- Sasaki, Kaneshige;
- Haji, Yoichiro;
- Kirino, Yohei;
- Matsumoto, Naomichi;
- Morita, Akimichi
Publication type:
Article
Comment on: Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome: reply.
Published in:
Rheumatology, 2024, v. 63, n. 8, p. e229, doi. 10.1093/rheumatology/kead626
By:
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Maeda, Ayaka;
- Horita, Nobuyuki;
- Kirino, Yohei;
- Matsumoto, Naomichi
Publication type:
Article
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Published in:
Rheumatology, 2024, v. 63, n. 8, p. 2056, doi. 10.1093/rheumatology/kead425
By:
- Maeda, Ayaka;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Horita, Nobuyuki;
- Kobayashi, Satoshi;
- Kishimoto, Mitsumasa;
- Kobayashi, Daisuke;
- Matsumoto, Haruki;
- Asano, Tomoyuki;
- Migita, Kiyoshi;
- Kato, Ayaka;
- Mori, Ichiro;
- Morita, Hiroyuki;
- Matsubara, Akihiro;
- Marumo, Yoshiaki;
- Ito, Yuji;
- Machiyama, Tomoaki;
- Shirai, Tsuyoshi;
- Ishii, Tomonori;
- Kishibe, Mari
Publication type:
Article
Pregnancy outcomes in patients with familial Mediterranean fever: systematic review and meta-analysis.
Published in:
Rheumatology, 2024, v. 63, n. 2, p. 277, doi. 10.1093/rheumatology/kead417
By:
- Hirahara, Yuhya;
- Yamaguchi, Midori;
- Takase-Minegishi, Kaoru;
- Kirino, Yohei;
- Aoki, Shigeru;
- Hirahara, Lisa;
- Obata, Soichiro;
- Kasai, Michi;
- Maeda, Ayaka;
- Tsuchida, Naomi;
- Yoshimi, Ryusuke;
- Horita, Nobuyuki;
- Nakajima, Hideaki;
- Miyagi, Etsuko
Publication type:
Article
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 590, doi. 10.1111/cge.14292
By:
- Inoue, Yuta;
- Tsuchida, Naomi;
- Okamoto, Nobuhiko;
- Shuichi, Shimakawa;
- Ohashi, Kei;
- Saitoh, Shinji;
- Ogawa, Atsushi;
- Hamada, Keisuke;
- Sakamoto, Masamune;
- Miyake, Noriko;
- Hamanaka, Kohei;
- Fujita, Atsushi;
- Koshimizu, Eriko;
- Miyatake, Satoko;
- Mizuguchi, Takeshi;
- Ogata, Kazuhiro;
- Uchiyama, Yuri;
- Matsumoto, Naomichi
Publication type:
Article
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454
By:
- Tsuchida, Naomi;
- Hamada, Keisuke;
- Shiina, Masaaki;
- Kato, Mitsuhiro;
- Kobayashi, Yu;
- Tohyama, Jun;
- Kimura, Kazue;
- Hoshino, Kyoko;
- Ganesan, Vigneswari;
- Teik, Keng W.;
- Nakashima, Mitsuko;
- Mitsuhashi, Satomi;
- Mizuguchi, Takeshi;
- Takata, Atsushi;
- Miyake, Noriko;
- Saitsu, Hirotomo;
- Ogata, Kazuhiro;
- Miyatake, Satoko;
- Matsumoto, Naomichi
Publication type:
Article
A novel LRP6 variant in a Japanese family with oligodontia.
Published in:
Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00162-w
By:
- Goto, Hiroki;
- Kimura, Masashi;
- Machida, Junichiro;
- Ota, Akiko;
- Nakashima, Mitsuko;
- Tsuchida, Naomi;
- Adachi, Junya;
- Aoki, Yoshihiko;
- Tatematsu, Tadashi;
- Takahashi, Katsu;
- Sana, Masatoshi;
- Nakayama, Atsuo;
- Suzuki, Shintaro;
- Nagao, Toru;
- Matsumoto, Naomichi;
- Tokita, Yoshihito
Publication type:
Article
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224
By:
- Sakamoto, Masamune;
- Sasaki, Kazunori;
- Sugie, Atsushi;
- Nitta, Yohei;
- Kimura, Tetsuaki;
- Gürsoy, Semra;
- Cinleti, Tayfun;
- Iai, Mizue;
- Sengoku, Toru;
- Ogata, Kazuhiro;
- Suzuki, Atsushi;
- Okamoto, Nobuhiko;
- Iwama, Kazuhiro;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Hamanaka, Kohei;
- Miyatake, Satoko;
- Mizuguchi, Takeshi
Publication type:
Article
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 8, p. 1421, doi. 10.1093/hmg/ddy052
By:
- Takeshi Mizuguchi;
- Mitsuko Nakashima;
- Mitsuhiro Kato;
- Nobuhiko Okamoto;
- Hirokazu Kurahashi;
- Nina Ekhilevitch;
- Masaaki Shiina;
- Gen Nishimura;
- Takashi Shibata;
- Muneaki Matsuo;
- Tae Ikeda;
- Kazuhiro Ogata;
- Naomi Tsuchida;
- Satomi Mitsuhashi;
- Satoko Miyatake;
- Atsushi Takata;
- Noriko Miyake;
- Kenichiro Hata;
- Tadashi Kaname;
- Yoichi Matsubara
Publication type:
Article
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
Published in:
International Journal of Hematology, 2024, v. 119, n. 5, p. 603, doi. 10.1007/s12185-024-03751-x
By:
- Ohashi, Takuma;
- Kunimoto, Hiroyoshi;
- Nukui, Jun;
- Teshigawara, Haruka;
- Koyama, Satoshi;
- Miyazaki, Takuya;
- Hagihara, Maki;
- Matsumoto, Kenji;
- Koshimizu, Eriko;
- Tsuchida, Naomi;
- Hamanoue, Haruka;
- Miyatake, Satoko;
- Yachie, Akihiro;
- Matsumoto, Naomichi;
- Nakajima, Hideaki
Publication type:
Article
Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
Published in:
International Journal of Hematology, 2023, v. 118, n. 4, p. 494, doi. 10.1007/s12185-023-03598-8
By:
- Kunimoto, Hiroyoshi;
- Miura, Ayaka;
- Maeda, Ayaka;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Kunishita, Yosuke;
- Nakajima, Yuki;
- Takase-Minegishi, Kaoru;
- Yoshimi, Ryusuke;
- Miyazaki, Takuya;
- Hagihara, Maki;
- Yamazaki, Etsuko;
- Kirino, Yohei;
- Matsumoto, Naomichi;
- Nakajima, Hideaki
Publication type:
Article
VEXAS syndrome.
Published in:
2022
By:
- Uchino, Kaori;
- Kanasugi, Jo;
- Enomoto, Megumi;
- Kitamura, Fumiya;
- Tsuchida, Naomi;
- Uchiyama, Yuri;
- Maeda, Ayaka;
- Kirino, Yohei;
- Matsumoto, Naomichi;
- Takami, Akiyoshi
Publication type:
Letter
X-linked intellectual disability related to a novel variant of KLHL15.
Published in:
Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00248-7
By:
- Kido, Jun;
- Egami, Kimiyasu;
- Misumi, Yohei;
- Sugawara, Keishin;
- Tsuchida, Naomi;
- Matsumoto, Naomichi;
- Ueda, Mitsuharu;
- Nakamura, Kimitoshi
Publication type:
Article
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
By:
- Itai, Toshiyuki;
- Hamanaka, Kohei;
- Sasaki, Kazunori;
- Wagner, Matias;
- Kotzaeridou, Urania;
- Brösse, Ines;
- Ries, Markus;
- Kobayashi, Yu;
- Tohyama, Jun;
- Kato, Mitsuhiro;
- Ong, Winnie P.;
- Chew, Hui B.;
- Rethanavelu, Kavitha;
- Ranza, Emmanuelle;
- Blanc, Xavier;
- Uchiyama, Yuri;
- Tsuchida, Naomi;
- Fujita, Atsushi;
- Azuma, Yoshiteru;
- Koshimizu, Eriko
Publication type:
Article
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses.
Published in:
Human Mutation, 2021, v. 42, n. 1, p. 50, doi. 10.1002/humu.24129
By:
- Uchiyama, Yuri;
- Yamaguchi, Daisuke;
- Iwama, Kazuhiro;
- Miyatake, Satoko;
- Hamanaka, Kohei;
- Tsuchida, Naomi;
- Aoi, Hiromi;
- Azuma, Yoshiteru;
- Itai, Toshiyuki;
- Saida, Ken;
- Fukuda, Hiromi;
- Sekiguchi, Futoshi;
- Sakaguchi, Tomohiro;
- Lei, Ming;
- Ohori, Sachiko;
- Sakamoto, Masamune;
- Kato, Mitsuhiro;
- Koike, Takayoshi;
- Takahashi, Yukitoshi;
- Tanda, Koichi
Publication type:
Article
Dysfunction of TRIM21 in interferon signature of systemic lupus erythematosus.
Published in:
Modern Rheumatology, 2018, v. 28, n. 6, p. 993, doi. 10.1080/14397595.2018.1436028
By:
- Reikou Kamiyama;
- Ryusuke Yoshimi;
- Mitsuhiro Takeno;
- Yasuhiro Iribe;
- Toshinori Tsukahara;
- Daiga Kishimoto;
- Yosuke Kunishita;
- Yumiko Sugiyama;
- Naomi Tsuchida;
- Hiroto Nakano;
- Kaoru Minegishi;
- Maasa Tamura;
- Yukiko Asami;
- Yohei Kirino;
- Yoshiaki Ishigatsubo;
- Keiko Ozato;
- Hideaki Nakajima
Publication type:
Article
Musculoskeletal ultrasonography delineates ankle symptoms in rheumatoid arthritis.
Published in:
Modern Rheumatology, 2017, v. 27, n. 3, p. 425, doi. 10.1080/14397595.2016.1222650
By:
- Yukihiro Toyota;
- Maasa Tamura;
- Yohei Kirino;
- Yumiko Sugiyama;
- Naomi Tsuchida;
- Yosuke Kunishita;
- Daiga Kishimoto;
- Reikou Kamiyama;
- Yasushi Miura;
- Kaoru Minegishi;
- Ryusuke Yoshimi;
- Atsuhisa Ueda;
- Hideaki Nakajima
Publication type:
Article
On-demand ultrasonography assessment in the most symptomatic joint supports the 8-joint score system for management of rheumatoid arthritis patients.
Published in:
Modern Rheumatology, 2017, v. 27, n. 2, p. 257, doi. 10.1080/14397595.2016.1206173
By:
- Ryusuke Yoshimi;
- Mitsuhiro Takeno;
- Yukihiro Toyota;
- Naomi Tsuchida;
- Yumiko Sugiyama;
- Yosuke Kunishita;
- Daiga Kishimoto;
- Reikou Kamiyama;
- Kaoru Minegishi;
- Maasa Hama;
- Yohei Kirino;
- Yoshiaki Ishigatsubo;
- Shigeru Ohno;
- Atsuhisa Ueda;
- Hideaki Nakajima
Publication type:
Article
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.
Published in:
Arthritis Research & Therapy, 2019, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13075-019-1928-5
By:
- Tsuchida, Naomi;
- Kirino, Yohei;
- Soejima, Yutaro;
- Onodera, Masafumi;
- Arai, Katsuhiro;
- Tamura, Eiichiro;
- Ishikawa, Takashi;
- Kawai, Toshinao;
- Uchiyama, Toru;
- Nomura, Shigeru;
- Kobayashi, Daisuke;
- Taguri, Masataka;
- Mitsuhashi, Satomi;
- Mizuguchi, Takeshi;
- Takata, Atsushi;
- Miyake, Noriko;
- Nakajima, Hideaki;
- Miyatake, Satoko;
- Matsumoto, Naomichi
Publication type:
Article
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Published in:
Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1437668
By:
- Kei-ichiro Inamori;
- Katsuya Nakamura;
- Fumi Shishido;
- Jia-Chen Hsu;
- Masakazu Nagafuku;
- Takahiro Nitta;
- Junji Ikeda;
- Hidekane Yoshimura;
- Minori Kodaira;
- Naomi Tsuchida;
- Naomichi Matsumoto;
- Satoshi Uemura;
- Shiho Ohno;
- Noriyoshi Manabe;
- Yoshiki Yamaguchi;
- Akira Togayachi;
- Aoki-Kinoshita, Kiyoko F.;
- Shoko Nishihara;
- Jun-ichi Furukawa;
- Tadashi Kaname
Publication type:
Article
Clinical images: VEXAS syndrome presenting as treatment‐refractory polyarteritis nodosa.
Published in:
2022
By:
- Itagane, Masaki;
- Teruya, Hiroyuki;
- Kato, Tomohiro;
- Tsuchida, Naomi;
- Maeda, Ayaka;
- Kirino, Yohei;
- Uchiyama, Yuri;
- Matsumoto, Naomichi;
- Kinjo, Mitsuyo
Publication type:
Case Study

Found: 42