换一批Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
第一作者：
Yasuyoshi,Oka
第一单位：
Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.;Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
作者：
Yasuyoshi,Oka [1]
;
Motoharu,Hamada [2]
;
Yuka,Nakazawa [1]
;
Hideki,Muramatsu [2]
;
Yusuke,Okuno [2]
;
Koichiro,Higasa [3]
;
Mayuko,Shimada [1]
;
Honoka,Takeshima [4]
;
Katsuhiro,Hanada [5]
;
Taichi,Hirano [6]
;
Toshiro,Kawakita [6]
;
Hirotoshi,Sakaguchi [7]
;
Takuya,Ichimura [8]
;
Shuichi,Ozono [9]
;
Kotaro,Yuge [9]
;
Yoriko,Watanabe [9]
;
Yuko,Kotani [10]
;
Mutsumi,Yamane [11]
;
Yumiko,Kasugai [12]
;
Miyako,Tanaka [13]
;
Takayoshi,Suganami [13]
;
Shinichiro,Nakada [14]
;
Norisato,Mitsutake [15]
;
Yuichiro,Hara [1]
;
Kohji,Kato [1]
;
Seiji,Mizuno [16]
;
Noriko,Miyake [17]
;
Yosuke,Kawai [18]
;
Katsushi,Tokunaga [19]
;
Masao,Nagasaki [20]
;
Seiji,Kito [11]
;
Keiichi,Isoyama [21]
;
Masafumi,Onodera [22]
;
Hideo,Kaneko [23]
;
Naomichi,Matsumoto [17]
;
Fumihiko,Matsuda [24]
;
Keitaro,Matsuo [25]
;
Yoshiyuki,Takahashi [2]
;
Tomoji,Mashimo [26]
;
Seiji,Kojima [2]
;
Tomoo,Ogi [27]
作者单位：
Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.;Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[1]
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[2]
Department of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, Osaka, Japan.;Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
[3]
Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.;Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.;School of Medicine, Nagoya University, Nagoya, Japan.
[4]
Clinical Engineering Research Center, Faculty of Medicine, Oita University, Yufu, Japan.
[5]
Department of Hematology, National Hospital Organization, Kumamoto Medical Center, Kumamoto, Japan.
[6]
Department of Hematology and Oncology, Children Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan.
[7]
Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Ube, Japan.
[8]
Department of Pediatrics and Child Health, School of Medicine, Kurume University, Kurume, Japan.
[9]
Institute of Experimental Animal Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.;Genome Editing Research and Development (R&D) Center, Graduate School of Medicine, Osaka University, Osaka, Japan.
[10]
Center for Animal Research and Education, Nagoya University, Nagoya, Japan.
[11]
Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
[12]
Department of Molecular Medicine and Metabolism, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.;Department of Immunometabolism, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[13]
Department of Bioregulation and Cellular Response, Graduate School of Medicine, Osaka University, Osaka, Japan.;Institute for Advanced Co-Creation Studies, Osaka University, Osaka, Japan.
[14]
Department of Radiation Medical Sciences, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
[15]
Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.
[16]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[17]
Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.;Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
[18]
Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
[19]
Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.;Human Biosciences Unit for the Top Global Course Center for the Promotion of Interdisciplinary Education and Research, Kyoto University, Kyoto, Japan.
[20]
Department of Pediatrics, Showa University Fujigaoka Hospital, Yokohama, Japan.
[21]
Division of Immunology, National Center for Child Health and Development, Tokyo, Japan.
[22]
Department of Clinical Research, National Hospital Organization, Nagara Medical Center, Gifu, Japan.
[23]
Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
[24]
Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.;Department of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[25]
Institute of Experimental Animal Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan.;Genome Editing Research and Development (R&D) Center, Graduate School of Medicine, Osaka University, Osaka, Japan.;Division of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
[26]
Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan. togi@riem.nagoya-u.ac.jp.;Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[27]
DOI
10.1126/sciadv.abd7197
PMID
33355142
发布时间
2024-06-28
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Science advances
Science advances
2020年6卷51期
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