Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
作者:
Ayaka,Maeda [1]
;
Naomi,Tsuchida [2]
;
Yuri,Uchiyama [3]
;
Nobuyuki,Horita [4]
;
Satoshi,Kobayashi [5]
;
Mitsumasa,Kishimoto [5]
;
Daisuke,Kobayashi [6]
;
Haruki,Matsumoto [7]
;
Tomoyuki,Asano [7]
;
Kiyoshi,Migita [7]
;
Ayaka,Kato [8]
;
Ichiro,Mori [8]
;
Hiroyuki,Morita [8]
;
Akihiro,Matsubara [9]
;
Yoshiaki,Marumo [10]
;
Yuji,Ito [11]
;
Tomoaki,Machiyama [12]
;
Tsuyoshi,Shirai [12]
;
Tomonori,Ishii [13]
;
Mari,Kishibe [14]
;
Yusuke,Yoshida [15]
;
Shintaro,Hirata [15]
;
Satoshi,Akao [16]
;
Akitsu,Higuchi [16]
;
Ryo,Rokutanda [16]
;
Ken,Nagahata [17]
;
Hiroki,Takahashi [17]
;
Kosuke,Katsuo [18]
;
Toshio,Ohtani [18]
;
Hiroshi,Fujiwara [19]
;
Hiromichi,Nagano [19]
;
Takashi,Hosokawa [19]
;
Takanori,Ito [20]
;
Yoichiro,Haji [20]
;
Hiroyuki,Yamaguchi [21]
;
Noboru,Hagino [21]
;
Toshimasa,Shimizu [22]
;
Tomohiro,Koga [22]
;
Atsushi,Kawakami [22]
;
Goichi,Kageyama [23]
;
Hiroshi,Kobayashi [24]
;
Akiko,Aoki [24]
;
Akinari,Mizokami [25]
;
Yoichi,Takeuchi [26]
;
Rena,Motohashi [26]
;
Hiroyuki,Hagiyama [27]
;
Masaki,Itagane [28]
;
Hiroyuki,Teruya [29]
;
Tomohiro,Kato [30]
;
Yuji,Miyoshi [30]
;
Takayasu,Kise [30]
;
Naoto,Yokogawa [30]
;
Takako,Ishida [31]
;
Naoki,Umeda [31]
;
Shuntaro,Isogai [32]
;
Taio,Naniwa [32]
;
Toru,Yamabe [32]
;
Kaori,Uchino [33]
;
Jo,Kanasugi [33]
;
Akiyoshi,Takami [33]
;
Yasushi,Kondo [34]
;
Kazunori,Furuhashi [34]
;
Koichi,Saito [34]
;
Shigeru,Ohno [35]
;
Daiga,Kishimoto [35]
;
Mari,Yamamoto [36]
;
Yoshiro,Fujita [36]
;
Yuichiro,Fujieda [37]
;
Sachiko,Araki [38]
;
Hiroshi,Tsushima [39]
;
Kyohei,Misawa [40]
;
Akira,Katagiri [39]
;
Takahiro,Kobayashi [41]
;
Kenichi,Hashimoto [41]
;
Takehiro,Sone [42]
;
Yukiko,Hidaka [43]
;
Hiroaki,Ida [43]
;
Ryuta,Nishikomori [44]
;
Hiroshi,Doi [45]
;
Katsumichi,Fujimaki [46]
;
Keiichi,Akasaka [47]
;
Masako,Amano [47]
;
Hidekazu,Matsushima [47]
;
Kaori,Kashino [48]
;
Hidenori,Ohnishi [49]
;
Yuki,Miwa [49]
;
Noriyuki,Takahashi [50]
;
Kaoru,Takase-Minegishi [1]
;
Ryusuke,Yoshimi [1]
;
Yohei,Kirino [1]
;
Hideaki,Nakajima [1]
;
Naomichi,Matsumoto [51]
作者单位:
Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[1]
Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.;Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.;Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[2]
Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.;Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[3]
Chemotherapy Center, Yokohama City University Hospital, Yokohama, Japan.
[4]
Department of Nephrology and Rheumatology, Kyorin University School of Medicine, Tokyo, Japan.
[5]
Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
[6]
Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan.
[7]
Department of General Internal Medicine, Gifu University Hospital, Gifu, Japan.
[8]
Department of Dermatology, Chita Kosei Hospital, Mihama, Japan.
[9]
Department of Hematology and Oncology, Graduate School of Medicine, Nagoya City University, Nagoya, Japan.
[10]
Department of General Internal Medicine, Chutoen General Medical Center, Kakegawa, Japan.
[11]
Department of Rheumatology, Tohoku University Hospital, Sendai, Japan.
[12]
Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai, Japan.
[13]
Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
[14]
Department of Clinical Immunology and Rheumatology, Hiroshima University Hospital, Hiroshima, Japan.
[15]
Division of Rheumatology, Department of Internal Medicine, Kameda Medical Center, Kamogawa, Japan.
[16]
Department of Rheumatology and Clinical Immunology, Sapporo Medical University School of Medicine, Sapporo, Japan.
[17]
Department of Dermatology, Kurashiki Central Hospital, Kurashiki, Japan.
[18]
Division of Rheumatology and Allergy, Osaka General Medical Center, Osaka, Japan.
[19]
Department of Rheumatology, Daido Hospital, Nagoya, Japan.
[20]
Department of Rheumatology, Teikyo University Chiba Medical Center, Ichihara, Japan.
[21]
Departments of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
[22]
Department of Rheumatology, Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Japan.
[23]
Department of Rheumatology, Tokyo Medical University Hachioji Medical Center, Hachioji, Japan.
[24]
Department of Rheumatology, Japan Community Healthcare Organization, Isahaya General Hospital, Isahaya, Japan.
[25]
Department of Rheumatology and Nephrology, Japanese Red Cross Maebashi Hospital, Maebashi, Japan.
[26]
Department of Rheumatology, Yokohama City Minato Red Cross Hospital, Yokohama, Japan.
[27]
Department of Rheumatology, Okinawa Chubu Hospital, Uruma, Japan.
[28]
Department of Allergy and Rheumatology, Graduation School of Medicine, University of Tokyo, Bunkyo-ku, Japan.
[29]
Department of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Fuchu, Japan.
[30]
Department of Dermatology, JA Hiroshima General Hospital, Hatsukaichi, Japan.
[31]
Division of Rheumatology, Department of Internal Medicine, Nagoya City University Hospital, Nagoya, Japan.
[32]
Division of Hematology, Department of Internal Medicine, Aichi Medical University, Nagakute, Japan.
[33]
Division of Rheumatology, Department of Internal medicine, Keio University School of Medicine, Shinjuku-ku, Japan.
[34]
Center for Rheumatic Diseases, Yokohama City University Medical Center, Yokohama, Japan.
[35]
Department of Rheumatology and Nephrology, Chubu Rosai Hospital, Nagoya, Japan.
[36]
Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
[37]
Department of Internal Medicine, Niizashiki Central General Hospital, Niiza, Japan.
[38]
Department of Internal Medicine and Rheumatology, Juntendo University Shizuoka Hospital, Izunokuni, Japan.
[39]
Department of Hematology, Juntendo University Shizuoka Hospital, Izunokuni, Japan.
[40]
Department of General Medicine, National Defense Medical College Hospital, Tokorozawa, Japan.
[41]
Division of Hematology, Department of Internal Medicine, National Defense Medical College Hospital, Tokorozawa, Japan.
[42]
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan.
[43]
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
[44]
Department of Immunology, Shiga General Hospital, Moriyama, Japan.
[45]
Department of Hematology, Fujisawa City Hospital, Fujisawa, Japan.
[46]
Department of Respiratory Medicine, Saitama Red Cross Hospital, Saitama, Japan.
[47]
Department of Dermatology, Onomichi Municipal Hospital, Onomichi, Japan.
[48]
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
[49]
Department of Education for Community-Oriented Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan.;Department of General Medicine, Nagoya University Hospital, Nagoya, Japan.
[50]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[51]
主题词
人类(Humans);泛素激活酶类(Ubiquitin-Activating Enzymes);男(雄)性(Male);女(雌)性(Female);中年人(Middle Aged);老年人(Aged);基因频率(Gene Frequency);遗传性自身炎症性疾病(Hereditary Autoinflammatory Diseases);遗传变异(Genetic Variation)
DOI
10.1093/rheumatology/kead425
PMID
37606963
发布时间
2024-11-20
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Rheumatology (Oxford, England)
Rheumatology (Oxford, England)
2056-2064页
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