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：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：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：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：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：Divya Mishra (1)
Takema Kato (1)
Hidehito Inagaki (1)
Tomoki Kosho (2)
Keiko Wakui (2)
Yasuhiro Kido (3)
Satoru Sakazume (3)
Mariko Taniguchi-Ikeda (4)
Naoya Morisada (4)
Kazumoto Iijima (4)
Yoshimitsu Fukushima (2)
Beverly S Emanuel (5) (6)
Hiroki Kurahashi (1)

1. Division of Molecular Genetics ; Institute for Comprehensive Medical Science ; Fujita Health University ; Toyoake ; Aichi ; 470-1192 ; Japan
2. Department of Medical Genetics ; Shinshu University School of Medicine ; Matsumoto ; Nagano ; 390-8621 ; Japan
3. Department of Pediatrics ; Dokkyo Medical University Koshigaya Hospital ; Koshigaya ; Saitama ; 343-8555 ; Japan
4. Department of Pediatrics ; Kobe University Graduate School of Medicine ; Kobe ; Hyogo ; 650-0017 ; Japan
5. Division of Human Genetics ; The Children鈥檚 Hospital of Philadelphia ; Philadelphia ; PA ; 19104 ; USA
6. Department of Pediatrics ; The Perelman School of Medicine of the University of Pennsylvania ; Philadelphia ; PA ; 19104 ; USA

关键词：PATRR ; t(8 ; 22) ; Palindrome ; mediated translocation ; Supernumerary der(8)t(8 ; 22)

刊名：Molecular Cytogenetics

出版年：2014

作者：Jun Odaka (1)
Takahiro Kanai (1)
Ritei Uehara (2)
Eiji Kusano (3)
Takanori Yamagata (1)

1. Department of Pediatrics ; Jichi Medical University ; 3311-1 Yakushiji ; Shimotsuke ; Tochigi ; 329-0498 ; Japan
2. Department of Public Health ; Jichi Medical University ; Tochigi ; Japan
3. Department of Nephrology ; Jichi Medical University ; Tochigi ; Japan

关键词：Child ; First episode ; Nephrotic syndrome ; Season

刊名：Clinical and Experimental Nephrology

出版年：2015

作者：A. Haagensen (1)
H. A. Feldman (2)
C. M. Gordon (3) (4)

1. Division of Endocrinology ; Boston Children鈥檚 Hospital and Harvard Medical School ; 333 Longwood Avenue ; 6th floor ; Boston ; MA ; 02115 ; USA
2. Clinical Research Center ; Boston Children鈥檚 Hospital and Harvard Medical School ; 21 Autumn Street ; Rm 320.3 ; Boston ; MA ; 02115 ; USA
3. Division of Adolescent Medicine ; Hasbro Children鈥檚 Hospital ; 593 Eddy Street ; Providence ; RI ; 02903 ; USA
4. Department of Pediatrics ; Alpert Medical School of Brown University ; Providence ; RI ; 02903 ; USA

刊名：Osteoporosis International

出版年：2015

作者：Katrina J Allen (1) (2) (3)
Paul J Turner (4) (5)
Ruby Pawankar (6)
Stephen Taylor (7)
Scott Sicherer (8)
Gideon Lack (10) (9)
Nelson Rosario (11)
Motohiro Ebisawa (12)
Gary Wong (13)
E N Clare Mills (3)
Kirsten Beyer (14)
Alessandro Fiocchi (15)
Hugh A Sampson (8)

1. Murdoch Childrens Research Institute ; Department of Allergy and Immunology ; The University of Melbourne ; Melbourne ; Australia
2. Department of Paediatrics ; Royal Children鈥檚 Hospital ; Parkville ; Australia
3. Institute of Inflammation and Repair ; Manchester Academic Health Sciences Centre ; Manchester Institute of Biotechnology ; The University of Manchester ; Manchester ; UK
4. Section of Paediatrics ; Allergy and Infectious Diseases ; MRC and Asthma UK Centre in Allergic Mechanisms of Asthma ; Imperial College London ; London ; UK
5. Division of Paediatrics & Child Health ; University of Sydney ; Sydney ; Australia
6. Division of Allergy ; Department of Pediatrics ; Nippon Medical School ; 1-1-5 ; Sendagi ; Bunkyo-ku ; Tokyo ; 113-8603 ; Japan
7. Food Allergy Research & Resource Program ; Department of Food Science & Technology ; University of Nebraska ; Lincoln ; NE ; USA
8. Division of Allergy and Immunology ; Department of Pediatrics ; Jaffe Food Allergy Institute ; Icahn School of Medicine at Mount Sinai ; New York ; NY ; USA
10. Children鈥檚 Allergy Unit ; Guy鈥檚 and St. Thomas鈥?NHS Foundation Trust ; London ; UK
9. Division of Asthma ; Allergy and Lung Biology ; MRC and Asthma UK Centre in Allergic Mechanisms of Asthma ; King鈥檚 College London ; London ; UK
11. University of Parana ; Curitiba ; Brazil
12. Department of Allergy ; Clinical Research Center for Allergy and Rheumatology ; Sagamihara National Hospital ; Tokyo ; Japan
13. Department of Paediatrics and School of Public Health ; Chinese University of Hong Kong ; Shatin ; Hong Kong
14. Department of Pediatric Pneumology and Immunulogy ; Charit茅 Universit盲tsmedizin Berlin ; Berlin ; Germany
15. Hospital Bambino Ges霉 ; Vatican City ; Rome ; Italy

关键词：Allergen labelling ; Food allergy ; Legislation ; Precationary allergen labelling ; Anaphylaxis ; Allergen avoidance ; Mandatory labelling

刊名：World Allergy Organization Journal

出版年：2014

作者：Claus Bachert (1)
Ruby Pawankar (2)
Luo Zhang (3)
Chaweewan Bunnag (4)
Wytske J Fokkens (5)
Daniel L Hamilos (6)
Orathai Jirapongsananuruk (4)
Robert Kern (7)
Eli O Meltzer (8)
Joaquim Mullol (9)
Robert Naclerio (10)
Renata Pilan (11)
Chae-Seo Rhee (12)
Harumi Suzaki (13)
Richard Voegels (14)
Michael Blaiss (15)

1. Upper Airways Research Laboratory (URL) ; University Hospital Ghent ; Kragujevac ; Belgium
2. Div. of Allergy ; Dept. of Pediatrics ; Nippon Medical School ; Tokyo ; Japan
3. Beijing Key Laboratory of Nasal diseases ; Beijing Institute of Otolaryngology ; Beijing ; China
4. Faculty of Medicine ; Siriraj Hospital Mahidol University ; Bangkok ; Thailand
5. Department of Otorhinolaryngology ; Academic Medical Centre ; Amsterdam ; The Netherlands
6. Division of Rheumatology ; Allergy & Immunology ; Massachusetts General Hospital ; Boston ; MA ; USA
7. Department of Otolaryngology Head and Neck Surgery ; Northwestern University Feinberg School of Medicine ; Chicago ; Illinois ; USA
8. Allergy & Asthma Medical Group & Research Center ; San Diego ; California ; USA
9. Rhinology Unit & Smell Clinic ; Hospital Cl铆nic 鈥?IDIBAPS ; Barcelona ; Catalonia ; Spain
10. Section of Otolaryngology Head and Neck Surgery ; Department of Surgery ; University of Chicago ; Chicago ; Illinois ; USA
11. Department of Otorhinolaryngology ; Clinics Hospital/University of Sao Paulo Medical School ; Kragujevac ; Brazil
12. Department of Otorhinolaryngology-Head and Neck Surgery ; Seoul National University Bundang Hospital ; Seongnam ; Seoul National University College of Medicine ; Seoul ; Korea
13. Dept. of Otorhinolaryngology ; Showa University ; Tokyo ; Japan
14. Department of Rhinology ; University of Sao Paulo Medical School ; Sao Paulo ; Brazil
15. University of Tennessee Health Science Center ; Memphis ; Tennessee

关键词：Chronic rhinosinusitis ; Pharmacoeconomics ; Pathophysiology ; Phenotypes ; Genetics ; Co ; morbidities ; Treatment ; Biologicals ; Unmet needs

刊名：World Allergy Organization Journal

出版年：2014