作者：Xi Yang (1)
Akihiro Hoshino (1)
Takashi Taga (2)
Tomoaki Kunitsu (2)
Yuhachi Ikeda (2)
Takahiro Yasumi (3)
Kenichi Yoshida (4)
Taizo Wada (5)
Kunio Miyake (6)
Takeo Kubota (6)
Yusuke Okuno (7)
Hideki Muramatsu (7)
Yuichi Adachi (1)
Satoru Miyano (8) (9)
Seishi Ogawa (4)
Seiji Kojima (7)
Hirokazu Kanegane (1) (10)

1. Department of Pediatrics ; Graduate School of Medicine and Pharmaceutical Sciences ; University of Toyama ; Toyama ; Japan
2. Department of Pediatrics ; Shiga University of Medical Science ; Otsu ; Japan
3. Department of Pediatrics ; Graduate School of Medicine ; Kyoto University ; Kyoto ; Japan
4. Department of Pathology and Tumor Biology ; Graduate School of Medicine ; Kyoto University ; Kyoto ; Japan
5. Department of Pediatrics ; School of Medicine ; Institute of Medical ; Pharmaceutical and Health Sciences ; Kanazawa University ; Kanazawa ; Japan
6. Department of Epigenetic Medicine ; Interdisciplinary Graduate School of Medicine and Engineering ; University of Yamanashi ; Yamanashi ; Japan
7. Department of Pediatrics ; Nagoya University Graduate School of Medicine ; Nagoya ; Japan
8. Laboratory of DNA Information Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
9. Laboratory of Sequence Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
10. Department of Pediatrics and Developmental Biology ; Graduate School of Medical and Dental Sciences ; Tokyo Medical and Dental University ; 1-5-45 Yushima ; Bunkyo-ku ; Tokyo ; 113-8519 ; Japan

关键词：Hemophagocytic lymphohistiocytosis ; X ; chromosome inactivation ; X ; linked inhibitor of apoptosis ; X ; linked lymphoproliferative syndrome

刊名：Journal of Clinical Immunology

出版年：2015

作者：Tamaki Kato (1)
Elena Crestani (2)
Chikako Kamae (1)
Kenichi Honma (1)
Tomoko Yokosuka (3)
Takeshi Ikegawa (4)
Naonori Nishida (5)
Hirokazu Kanegane (5) (6)
Taizo Wada (7)
Akihiro Yachie (7)
Osamu Ohara (8) (9)
Tomohiro Morio (6)
Luigi D. Notarangelo (2)
Kohsuke Imai (1) (6)
Shigeaki Nonoyama (1)

1. Department of Pediatrics ; National Defense Medical College ; Tokorozawa ; Saitama ; Japan
2. Division of Immunology ; Children鈥檚 Hospital Boston ; Harvard Medical School ; Boston ; MA ; USA
3. Department of Hemato-oncology/Regeneration Medicine ; Kanagawa Children鈥檚 Medical Center ; Yokohama ; Kanagawa ; Japan
4. Department of Pediatrics ; Yokohama Rosai Hospital ; Yokohama ; Kanagawa ; Japan
5. Department of Pediatrics ; University of Toyama ; Toyama ; Japan
6. Department of Pediatrics ; Tokyo Medical and Dental University (TMDU) ; 1-5-45 ; Yushima ; Bunkyo-ku ; Tokyo ; 113-8519 ; Japan
7. Department of Pediatrics ; Kanazawa University ; Kanazawa ; Ishikawa ; Japan
8. Laboratory for Integrative Genomics ; RIKEN Center for Integrative Medical Sciences ; Yokohama ; Kanagawa ; Japan
9. Department of Technology Development ; Kazusa DNA Research Institute ; Kisarazu ; Chiba ; Japan

关键词：RAG1 deficiency ; IgA deficiency ; TRECs ; KRECs ; primary immunodeficiency ; V(D)J recombination

刊名：Journal of Clinical Immunology

出版年：2015

作者：Sachiko Kawashima-Goto (1)
Toshihiko Imamura (1)
Masafumi Seki (2)
Motohiro Kato (2)
Kenichi Yoshida (3)
Atsuya Sugimoto (1)
Daisuke Kaneda (1)
Atsushi Fujiki (4)
Mitsuru Miyachi (1)
Takuya Nakatani (4) (5)
Shinya Osone (1)
Hiroyuki Ishida (1) (5)
Tomohiko Taki (6)
Junko Takita (2)
Yuichi Shiraishi (7)
Kenichi Chiba (7)
Hiroko Tanaka (8)
Satoru Miyano (7) (8)
Seishi Ogawa (3)
Hajime Hosoi (1)

1. Department of Pediatrics ; Kyoto Prefectural University of Medicine ; Graduate School of Medical Science ; Kajii-cho Hirokoji ; Kamigyo-ku ; Kyoto ; 602-8566 ; Japan
2. Department of Pediatrics ; The University of Tokyo ; Tokyo ; Japan
3. Department of Pathology and Tumor Biology ; Kyoto University ; Kyoto ; Japan
4. Department of Pediatrics ; National Hospital Organization Maizuru Medical Center ; Maizuru ; Japan
5. Department of Pediatrics ; Matsushita Memorial Hospital ; Moriguchi ; Japan
6. Department of Molecular Diagnostics and Therapeutics ; Kyoto Prefectural University of Medicine ; Graduate School of Medical Science ; Kyoto ; Japan
7. Laboratory of DNA Information Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
8. Laboratory of Sequence Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan

关键词：ETP ; ALL ; JAK3 ; Acquired UPD ; SNP array ; Whole ; exome sequencing

刊名：International Journal of Hematology

出版年：2015

作者：Akihiro Hoshino (1)
Keiko Nomura (1)
Takeru Hamashima (2)
Tomoya Isobe (3)
Masafumi Seki (4)
Mitsuteru Hiwatari (4)
Kenichi Yoshida (5)
Yuichi Shiraishi (6)
Kenichi Chiba (6)
Hiroko Tanaka (7)
Satoru Miyano (6) (7)
Seishi Ogawa (5)
Junko Takita (4)
Hirokazu Kanegane (1) (8)

1. Department of Pediatrics ; Graduate School of Medicine and Pharmaceutical Sciences ; University of Toyama ; 2630 Sugitani ; Toyama ; Toyama ; 930-0194 ; Japan
2. Department of Pathology ; Graduate School of Medicine and Pharmaceutical Sciences ; University of Toyama ; Toyama ; Japan
3. Student of Tokyo University School of Medicine ; Tokyo ; Japan
4. Department of Pediatrics ; Graduate School of Medicine ; University of Tokyo ; Tokyo ; Japan
5. Department of Pathology and Tumor Biology ; Graduate School of Medicine ; Kyoto University ; Kyoto ; Japan
6. Laboratory of DNA Information Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
7. Laboratory of Sequence Analysis ; Human Genome Center ; Institute of Medical Science ; The University of Tokyo ; Tokyo ; Japan
8. Department of Pediatrics and Developmental Biology ; Graduate School of Medical and Dental Sciences ; Tokyo Medical and Dental University ; Tokyo ; Japan

关键词：ALK ; Anaplastic large cell lymphoma ; Aggressive transformation ; RNA sequencing ; TPM3 ; ALK

刊名：International Journal of Hematology

出版年：2015

作者：Eriko Fujita-Jimbo (1) (2)
Yuko Tanabe (2)
Zhiling Yu (1) (3)
Karin Kojima (1)
Masato Mori (1)
Hong Li (1) (4)
Sadahiko Iwamoto (5)
Takanori Yamagata (1)
Mariko Y Momoi (1) (2)
Takashi Momoi (2)

1. Department of Pediatrics ; Jichi Medical University ; 3311-1 Yakushiji ; Shimotsuke-shi ; Tochigi ; 3290498 ; Japan
2. Medical Research Center ; International University of Welfare and Health ; 2600-1 Kitakanemaru ; Ohtawara ; 3248501 ; Japan
3. Department of Pediatrics ; Shengjing Hospital of China Medical University ; 36 Sanhao Street ; Heping District ; Shenyang ; 100004 ; Liaoning ; China
4. Medical Biochemical Genetics ; Harvard Medical School ; 25 Shattuck Street ; Boston ; MA ; 02115 ; USA
5. Division of Human Genetics ; Center for Molecular Medicine ; Jichi Medical University ; 3311-1 Yakushiji ; Shimotsuke-shi ; Tochigi ; 3290498 ; Japan

关键词：Autism spectrum disorder ; ASD ; GPCR ; ER stress ; Synaptic receptors ; GPR85

刊名：Molecular Autism

出版年：2015

作者：Tadamori Takahara (1)
Masaki Shimizu (2)
Yasuo Nakagishi (3)
Noriko Kinjo (4)
Akihiro Yachie (2)

1. Department of Pediatrics ; Hyogo Prefectural Tsukaguchi Hospital ; Amagasaki ; Japan
2. Department of Pediatrics ; School of Medicine ; Institute of Medical Pharmaceutical ; and Health Sciences ; Kanazawa University ; 13-1 Takaramachi ; Kanazawa ; 920-8641 ; Japan
3. Department of Pediatric Rheumatology ; Hyogo Prefectural Kobe Children鈥檚 Hospital ; Kobe ; Japan
4. Department of Pediatrics ; School of Medicine ; University of the Ryukyus ; Nakagami-gun ; Japan

关键词：Interleukin 18 ; Systemic juvenile idiopathic arthritis ; Incomplete Kawasaki disease

刊名：Rheumatology International

出版年：2015

作者：Kenji Ishikura (1)
Shinsuke Matsumoto (2)
Mayumi Sako (3)
Kazushi Tsuruga (4)
Koichi Nakanishi (5)
Koichi Kamei (6)
Hiroshi Saito (7)
Shuichiro Fujinaga (8)
Yuko Hamasaki (9)
Hiroko Chikamoto (10)
Yasufumi Ohtsuka (11)
Yasuhiro Komatsu (12)
Toshiyuki Ohta (13)
Takuhito Nagai (14)
Hiroshi Kaito (15)
Shuji Kondo (16)
Yohei Ikezumi (17)
Seiji Tanaka (18)
Yoshitsugu Kaku (19)
Kazumoto Iijima (20)

1. Department of Nephrology ; Tokyo Metropolitan Children鈥檚 Medical Center ; 2-8-29 Musashidai ; Fuchu ; Tokyo ; 183-8561 ; Japan
2. Department of Pediatrics ; Matsudo City Hospital Children鈥檚 Medical Center ; Chiba ; Japan
3. Division for Clinical Trials ; Department of Development Strategy ; Center for Social and Clinical Research ; National Research Institute for Child Health and Development ; Tokyo ; Japan
4. Department of Pediatrics ; Hirosaki University Graduate School of Medicine ; Hirosaki ; Japan
5. Department of Pediatrics ; Wakayama Medical University ; Wakayama ; Japan
6. Department of Nephrology and Rheumatology ; National Center for Child Health and Development ; Tokyo ; Japan
7. Department of Pediatrics ; Nihon University School of Medicine ; Tokyo ; Japan
8. Division of Nephrology ; Saitama Children鈥檚 Medical Center ; Saitama ; Japan
9. Department of Pediatric Nephrology ; Toho University Faculty of Medicine ; Tokyo ; Japan
10. Department of Pediatric Nephrology ; School of Medicine ; Tokyo Women鈥檚 Medical University ; Tokyo ; Japan
11. Department of Pediatrics ; Faculty of Medicine ; Saga University ; Saga ; Japan
12. Division of Nephrology ; Department of Medicine ; St. Luke鈥檚 International Hospital ; Tokyo ; Japan
13. Department of Pediatric Nephrology ; Hiroshima Prefectural Hospital ; Hiroshima ; Japan
14. Department of Nephrology ; Aichi Children鈥檚 Health and Medical Center ; Aichi ; Japan
15. Department of Pediatrics ; Kobe University Graduate School of Medicine ; Kobe ; Japan
16. Department of Pediatrics ; Institute of Health Bioscience ; Tokushima University ; Tokushima ; Japan
17. Department of Pediatrics ; Niigata University Medical and Dental Hospital ; Niigata ; Japan
18. Department of Pediatrics and Child Health ; Kurume University Medical Center ; Fukuoka ; Japan
19. Department of Nephrology ; Fukuoka Children鈥檚 Hospital ; Fukuoka ; Japan
20. Department of Pediatrics ; Kobe University Graduate School of Medicine ; Kobe ; Japan

刊名：Clinical and Experimental Nephrology

出版年：2015

作者：Toshiyuki Ohta (1)
Kohtaro Urayama (2)
Yoshihiro Tada (3)
Takeki Furue (1)
Sayaka Imai (2)
Keita Matsubara (2)
Hiroaki Ono (2)
Takashi Sakano (2)
Kazuhiko Jinno (2)
Yoko Yoshida (4)
Toshiyuki Miyata (5)
Yoshihiro Fujimura (4)

1. Department of Pediatric Nephrology ; Hiroshima Prefectural Hospital ; 1-5-54 Ujina-Kanda ; Minami-ku ; Hiroshima city ; Hiroshima ; 734-8530 ; Japan
2. Department of Pediatrics ; Hiroshima Prefectural Hospital ; Minami-ku ; Hiroshima city ; Hiroshima ; Japan
3. Department of Critical Care ; Hiroshima Prefectural Hospital ; Minami-ku ; Hiroshima city ; Hiroshima ; Japan
4. Department of Blood Transfusion Medicine ; Nara Medical University ; Kashihara ; Nara ; Japan
5. Department of Molecular Pathogenesis ; National Cerebral and Cardiovascular Center ; Suita ; Osaka ; Japan

关键词：Plasmapheresis ; resistant ; Meningococcal infection ; Prophylactic antibiotics ; Vaccination ; Pathological findings ; Atypical hemolytic uremic syndrome ; Anti ; C5 therapy

刊名：Pediatric Nephrology

出版年：2015

作者：Yoshitsugu Kaku (1)
Yasufumi Ohtsuka (2)
Yasuhiro Komatsu (3)
Toshiyuki Ohta (4)
Takuhito Nagai (5)
Hiroshi Kaito (6)
Shuji Kondo (7)
Yohei Ikezumi (8)
Seiji Tanaka (9)
Shinsuke Matsumoto (10)
Mayumi Sako (11)
Kazushi Tsuruga (12)
Koichi Nakanishi (13)
Koichi Kamei (14)
Hiroshi Saito (15)
Shuichiro Fujinaga (16)
Yuko Hamasaki (17)
Hiroko Chikamoto (18)
Kenji Ishikura (19)
Kazumoto Iijima (6)

1. Department of Nephrology ; Fukuoka Children鈥檚 Hospital ; 5-1-1 Kashii-Teriha ; Higashi-ku ; Fukuoka ; Japan
2. Department of Pediatrics ; Faculty of Medicine ; Saga University ; Saga ; Japan
3. Division of Nephrology ; Department of Medicine ; St. Luke鈥檚 International Hospital ; Tokyo ; Japan
4. Department of Pediatric Nephrology ; Hiroshima Prefectural Hospital ; Hiroshima ; Japan
5. Department of Nephrology ; Aichi Children鈥檚 Health and Medical Center ; Aichi ; Japan
6. Department of Pediatrics ; Kobe University Graduate School of Medicine ; Kobe ; Japan
7. Department of Pediatrics ; Institute of Health Bioscience ; Tokushima University ; Tokushima ; Japan
8. Department of Pediatrics ; Niigata University Medical and Dental Hospital ; Niigata ; Japan
9. Department of Pediatrics and Child Health ; Kurume University Medical Center ; Fukuoka ; Japan
10. Department of Pediatrics ; Matsudo City Hospital Children鈥檚 Medical Center ; Chiba ; Japan
11. Division for Clinical Trials ; Department of Development Strategy ; Center for Social and Clinical Research ; National Research Institute for Child Health and Development ; Tokyo ; Japan
12. Department of Pediatrics ; Hirosaki University Graduate School of Medicine ; Hirosaki ; Japan
13. Department of Pediatrics ; Wakayama Medical University ; Wakayama ; Japan
14. Department of Nephrology and Rheumatology ; National Center for Child Health and Development ; Tokyo ; Japan
15. Department of Pediatrics ; Nihon University School of Medicine ; Tokyo ; Japan
16. Division of Nephrology ; Saitama Children鈥檚 Medical Center ; Saitama ; Japan
17. Department of Pediatric Nephrology ; Toho University Faculty of Medicine ; Tokyo ; Japan
18. Department of Pediatric Nephrology ; Tokyo Women鈥檚 Medical University ; School of Medicine ; Tokyo ; Japan
19. Department of Nephrology ; Tokyo Metropolitan Children鈥檚 Medical Center ; 2-8-29 Musashidai ; Fuchu ; Tokyo ; 183-8561 ; Japan

刊名：Clinical and Experimental Nephrology

出版年：2015

作者：Wataru Tamaki (1)
Etsuko Tsuda (1)
Igarashi Takehiro (1)
Norio Tanaka (2)
Mikiya Fujieda (3)

1. Department of Pediatric Cardiology ; National Cerebral and Cardiovascular Center ; 5-7-1 Fujishirodai ; Suita-shi ; Osaka ; 565-8565 ; Japan
2. Department of Physiological Laboratory ; National Cerebral and Cardiovascular Center ; Osaka ; Japan
3. Department of Pediatrics ; Kochi Medical School ; Kochi University ; Kochi ; Japan

关键词：Right parasternal approach ; Coronary artery aneurysm ; Coronary artery lesion ; Two ; dimensional echocardiography ; Abnormal Q wave

刊名：Heart and Vessels

出版年：2015