Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus
RHEUMATOLOGY (2013)
期刊
RHEUMATOLOGY
卷 52, 期 2, 页码 406-408出版社
OXFORD UNIV PRESS
关键词
类别
资金
- Grants-in-Aid for Scientific Research [24890095, 23249056, 25670474] Funding Source: KAKEN
作者
我是这篇论文的作者
推荐
Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib
Shiyu Zhang, Jiaxing Song, Yuyan Yang, Huilei Miao, Lu Yang, Yuehua Liu, Xue Zhang, Yaping Liu, Tao Wang
PEDIATRIC RHEUMATOLOGY (2021)
Lupus erythematosus
Claudia Guenther, Joerg Wenzel
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT (2023)
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
Nobuo Kanazawa, Hiroaki Hemmi, Noriko Kinjo, Hidenori Ohnishi, Jun Hamazaki, Hiroyuki Mishima, Akira Kinoshita, Tsunehiro Mizushima, Satoru Hamada, Kazuya Hamada, Norio Kawamoto, Saori Kadowaki, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Miyuki Tsumura, Yusuke Yamashita, Shinobu Tamura, Takashi Orimo, Toshiya Ozasa, Takashi Kato, Izumi Sasaki, Yuri Fukuda-Ohta, Naoko Wakaki-Nishiyama, Yutaka Inaba, Kayo Kunimoto, Satoshi Okada, Takeshi Taketani, Koichi Nakanishi, Shigeo Murata, Koh-ichiro Yoshiura, Tsuneyasu Kaisho
NATURE COMMUNICATIONS (2021)
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation
Marta Swierczynska, Agnieszka Tronina, Erita Filipek
JOURNAL OF PERSONALIZED MEDICINE (2023)
Preimplantation genetic testing for Aicardi-Goutieres syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth
Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao, Xuemei Li
MOLECULAR CYTOGENETICS (2023)
A Novel Type I Interferon Primed Dendritic Cell Subpopulation in TREX1 Mutant Chilblain Lupus Patients
Anne Eugster, Denise Mueller, Anne Gompf, Susanne Reinhardt, Annett Lindner, Michelle Ashton, Nick Zimmermann, Stefan Beissert, Ezio Bonifacio, Claudia Guenther
FRONTIERS IN IMMUNOLOGY (2022)
LINE-1: an emerging initiator of cGAS-STING signalling and inflammation that is dysregulated in disease
Sabateeshan Mathavarajah, Graham Dellaire
BIOCHEMISTRY AND CELL BIOLOGY (2023)
Suppression of TREX1 deficiency-induced cellular senescence and interferonopathies by inhibition of DNA damage response
Hekang Du, Nanyang Xiao, Sitong Zhang, Xueyuan Zhou, Yangfan Zhang, Zengzeng Lu, Yuqian Fu, Miaohui Huang, Shan Xu, Qi Chen
ISCIENCE (2023)
PML and PML-like exonucleases restrict retrotransposons in jawed vertebrates
Sabateeshan Mathavarajah, Kathleen L. Vergunst, Elias B. Habib, Shelby K. Williams, Raymond He, Maria Maliougina, Mika Park, Jayme Salsman, Stephane Roy, Ingo Braasch, Andrew J. Roger, David N. Langelaan, Graham Dellaire
NUCLEIC ACIDS RESEARCH (2023)
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutieres Syndrome
Jessica Garau, Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi, Giana Izzo, Costanza Varesio, Simona Orcesi, Pierangelo Veggiotti, Gian Vincenzo Zuccotti, Orietta Pansarasa, Davide Tonduti, Cristina Cereda
FRONTIERS IN IMMUNOLOGY (2021)
Systemic lupus erythematosus overlapping dermatomyositis owing to a heterozygous TREX1 Asp130Asn missense mutation
Yushiro Endo, Tomohiro Koga, Hiroki Otaki, Kaori Furukawa, Atsushi Kawakami
CLINICAL IMMUNOLOGY (2021)
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core
Giulia Amico, Wayne O. Hemphill, Mariasavina Severino, Claudio Moratti, Rosario Pascarella, Marta Bertamino, Flavia Napoli, Stefano Volpi, Francesca Rosamilia, Sara Signa, Fred Perrino, Marialuisa Zedde, Isabella Ceccherini
GENES (2022)
Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis
Taisuke Ohto, Ahmed Abu Tayeh, Ryuta Nishikomori, Hiroto Abe, Kyota Hashimoto, Shiro Baba, Anahi-Paula Arias-Loza, Nobumasa Soda, Saya Satoh, Masashi Matsuda, Yusuke Iizuka, Takashi Kondo, Haruhiko Koseki, Nan Yan, Takahiro Higuchi, Takashi Fujita, Hiroki Kato
JOURNAL OF AUTOIMMUNITY (2022)
Genome instability independent of type I interferon signaling drives neuropathology caused by impaired ribonucleotide excision repair
Aditi, Susanna M. Downing, Patrick A. Schreiner, Young Don Kwak, Yang Li, Timothy Shaw, Helen R. Russell, Peter J. McKinnon
NEURON (2021)
Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus
Holly Wobma, Daniel S. Shin, Janet Chou, Fatma Dedeoglu
FRONTIERS IN IMMUNOLOGY (2022)
Transitioning from paediatric to adult rheumatological healthcare: English summary of the Japanese Transition Support Guide
Masaaki Mori, Shinji Akioka, Toru Igarashi, Yuzaburo Inoue, Hiroaki Umebayashi, Shiro Ohshima, Susumu Nishiyama, Motomu Hashimoto, Toshihiro Matsui, Takako Miyamae, Takahiro Yasumi
MODERN RHEUMATOLOGY (2022)
Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease
Keigo Matsuyuki, Mizuki Ide, Keishirou Houjou, Saho Shima, Seiji Tanaka, Yoriko Watanabe, Hiroyuki Tomino, Tomoko Egashira, Toshimitsu Takayanagi, Katsuya Tashiro, Ken Okamura, Tamio Suzuki, Takayuki Miyamoto, Hirofumi Shibata, Takahiro Yasumi, Ryuta Nishikomori
PEDIATRIC ALLERGY AND IMMUNOLOGY (2022)
An efficient diagnosis: A patient with X-linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin-18 combined with common laboratory parameters
Toru Higuchi, Kazushi Izawa, Takayuki Miyamoto, Yoshitaka Honda, Atsuko Nishiyama, Masaki Shimizu, Junko Takita, Takahiro Yasumi
PEDIATRIC BLOOD & CANCER (2022)
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study
Akihiro Hoshino, Etsushi Toyofuku, Noriko Mitsuiki, Motoi Yamashita, Keisuke Okamoto, Michio Yamamoto, Kenji Kanda, Genki Yamato, Dai Keino, Yuri Yoshimoto-Suzuki, Junji Kamizono, Yasuhiro Onoe, Takuya Ichimura, Mika Nagao, Masaru Yoshimura, Koji Tsugawa, Toru Igarashi, Kanako Mitsui-Sekinaka, Yujin Sekinaka, Takehiko Doi, Takahiro Yasumi, Yozo Nakazawa, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio, Sylvain Latour, Hirokazu Kanegane
FRONTIERS IN IMMUNOLOGY (2022)
Case Report: A Case of Epstein-Barr Virus-Associated Acute Liver Failure Requiring Hematopoietic Cell Transplantation After Emergent Liver Transplantation
Koji Nakajima, Eitaro Hiejima, Hiroshi Nihira, Kentaro Kato, Yoshitaka Honda, Kazushi Izawa, Naoko Kawabata, Itaru Kato, Eri Ogawa, Mari Sonoda, Tatsuya Okamoto, Hideaki Okajima, Takahiro Yasumi, Junko Takita
FRONTIERS IN IMMUNOLOGY (2022)
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation
Masahiko Nishitani-Isa, Kojiro Mukai, Yoshitaka Honda, Hiroshi Nihira, Takayuki Tanaka, Hirofumi Shibata, Kumi Kodama, Eitaro Hiejima, Kazushi Izawa, Yuri Kawasaki, Mitsujiro Osawa, Yu Katata, Sachiko Onodera, Tatsuya Watanabe, Takashi Uchida, Shigeo Kure, Junko Takita, Osamu Ohara, Megumu K. Saito, Ryuta Nishikomori, Tomohiko Taguchi, Yoji Sasahara, Takahiro Yasumi
JOURNAL OF EXPERIMENTAL MEDICINE (2022)
Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases
Takayuki Tanaka, Takeshi Shiba, Yoshitaka Honda, Kazushi Izawa, Takahiro Yasumi, Megumu K. Saito, Ryuta Nishikomori
FRONTIERS IN IMMUNOLOGY (2022)
Anti-Integrin αvβ6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis
Yuya Muramoto, Hiroshi Nihira, Masahiro Shiokawa, Kazushi Izawa, Eitaro Hiejima, Hiroshi Seno
GASTROENTEROLOGY (2022)
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis
Mariko Aoki, Kazushi Izawa, Takayuki Tanaka, Yoshitaka Honda, Takeshi Shiba, Yukako Maeda, Takayuki Miyamoto, Keisuke Okamoto, Masahiko Nishitani-Isa, Hiroshi Nihira, Kohsuke Imai, Junko Takita, Ryuta Nishikomori, Eitaro Hiejima, Takahiro Yasumi
FRONTIERS IN IMMUNOLOGY (2022)
Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3
Dan Tomomasa, Eitaro Hiejima, Takayuki Miyamoto, Kay Tanita, Masaki Matsuoka, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Yasumi, Menno C. van Zelm, Tomohiro Morio, Hirokazu Kanegane
CLINICAL IMMUNOLOGY (2022)
The dual aspects of IgD in the development of tolerance and the pathogenesis of allergic diseases
Naohiro Itoh, Yusei Ohshima
ALLERGOLOGY INTERNATIONAL (2023)
Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy
Hiroki Fujikawa, Hirotaka Shimizu, Ryusuke Nambu, Ichiro Takeuchi, Toshihiro Matsui, Kenichi Sakamoto, Yoshihiro Gocho, Takayuki Miyamoto, Takahiro Yasumi, Takako Yoshioka, Katsuhiro Arai
CLINICAL IMMUNOLOGY (2023)
Ulcerative colitis developed after remission of eosinophilic pneumonia
Motoko Yasutomi, Sachiyo Nitta, Taihei Hayashi, Toshihide Yoshikawa, Tatsushi Naito, Yusei Ohshima
PEDIATRICS INTERNATIONAL (2023)
Branchpoints as potential targets of exon-skipping therapies for genetic disorders
Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara
MOLECULAR THERAPY-NUCLEIC ACIDS (2023)
Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs
Susumu Yamazaki, Kazushi Izawa, Masakazu Matsushita, Akinori Moriichi, Dai Kishida, Hajime Yoshifuji, Ken Yamaji, Ryuta Nishikomori, Masaaki Mori, Takako Miyamae
RHEUMATOLOGY INTERNATIONAL (2023)