换一批
换一批De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
作者：
Toshiyuki,Itai [1]
;
Kohei,Hamanaka [1]
;
Kazunori,Sasaki [2]
;
Matias,Wagner [3]
;
Urania,Kotzaeridou [4]
;
Ines,Brösse [5]
;
Markus,Ries [5]
;
Yu,Kobayashi [5]
;
Jun,Tohyama [6]
;
Mitsuhiro,Kato [6]
;
Winnie P,Ong [7]
;
Hui B,Chew [8]
;
Kavitha,Rethanavelu [8]
;
Emmanuelle,Ranza [8]
;
Xavier,Blanc [9]
;
Yuri,Uchiyama [9]
;
Naomi,Tsuchida [1]
;
Atsushi,Fujita [10]
;
Yoshiteru,Azuma [1]
;
Eriko,Koshimizu [10]
;
Takeshi,Mizuguchi [1]
;
Atsushi,Takata [1]
;
Noriko,Miyake [1]
;
Hidehisa,Takahashi [1]
;
Etsuko,Miyagi [1]
;
Yoshinori,Tsurusaki [1]
;
Hiroshi,Doi [2]
;
Masataka,Taguri [11]
;
Stylianos E,Antonarakis [12]
;
Mitsuko,Nakashima [13]
;
Hirotomo,Saitsu [14]
;
Satoko,Miyatake [9]
;
Naomichi,Matsumoto [15]
作者单位：
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
[1]
Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
[2]
Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.
[3]
Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
[4]
Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[5]
Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Niigata, Japan.
[6]
Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo, Japan.
[7]
Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, Malaysia.
[8]
Swiss Institute of Genomic Medicine, Medigenome, Geneva, Switzerland.
[9]
Rare Disease Genomics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
[10]
Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
[11]
Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, Japan.
[12]
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
[13]
Department of Data Science, Yokohama City University School of Data Science, Yokohama, Kanagawa, Japan.
[14]
Department of Genetic Medicine, University of Geneva Medical School, Geneva, Switzerland.
[15]
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
[16]
Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
[17]
主题词
癫痫(Epilepsy);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);神经组织蛋白质类(Nerve Tissue Proteins);核定位信号(Nuclear Localization Signals);RNA结合蛋白质类(RNA-Binding Proteins)
DOI
10.1002/humu.24130
PMID
33131106
发布时间
2022-05-31
- 浏览4
Human mutation
Human mutation
66-76页
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