换一批
换一批CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
作者：
Yuri A,Zarate [1]
;
Tomoko,Uehara [2]
;
Kota,Abe [3]
;
Masayuki,Oginuma [3]
;
Sora,Harako [4]
;
Shizuka,Ishitani [3]
;
Anna-Elina,Lehesjoki [5]
;
Tatjana,Bierhals [6]
;
Katja,Kloth [6]
;
Nadja,Ehmke [7]
;
Denise,Horn [7]
;
Manuel,Holtgrewe [8]
;
Katherine,Anderson [9]
;
David,Viskochil [10]
;
Courtney L,Edgar-Zarate [11]
;
Maria J Guillen,Sacoto [12]
;
Rhonda E,Schnur [13]
;
Michelle M,Morrow [13]
;
Amarilis,Sanchez-Valle [13]
;
John,Pappas [14]
;
Rachel,Rabin [15]
;
Mikko,Muona [15]
;
Anna-Kaisa,Anttonen [5]
;
Konrad,Platzer [16]
;
Johannes,Luppe [5]
;
Janina,Gburek-Augustat [17]
;
Tadashi,Kaname [18]
;
Nobuhiko,Okamoto [18]
;
Seiji,Mizuno [19]
;
Yusaku,Kaido [20]
;
Yoshiaki,Ohkuma [21]
;
Yutaka,Hirose [22]
;
Tohru,Ishitani [4]
;
Kenjiro,Kosaki [4]
作者单位：
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA. yazarate@uams.edu.
[1]
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
[2]
Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.
[3]
Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
[4]
Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.
[5]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[6]
Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
[7]
Charité - Universitätsmedizin Berlin, Berlin, Germany.
[8]
Core Unit Bioinformatics - CUBI, Berlin Institute of Health, Berlin, Germany.
[9]
Department of Pediatrics, University of Vermont Medical Center, Burlington, VT, USA.
[10]
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
[11]
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
[12]
GeneDx, Gaithersburg, MD, USA.
[13]
Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
[14]
NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA.
[15]
Blueprint Genetics, Helsinki, Finland.
[16]
Department of Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.
[17]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[18]
Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany.
[19]
Department of Genome Medicine, National Center for Child Health and Developemt, Tokyo, Japan.
[20]
Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
[21]
Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan.
[22]
主题词
动物(Animals);细胞周期蛋白质依赖激酶类(Cyclin-Dependent Kinases);人类(Humans);婴儿(Infant);突变, 误义(Mutation, Missense);斑马鱼(Zebrafish)
DOI
10.1038/s41436-020-01091-9
PMID
33495529
发布时间
2024-03-07
- 浏览0
Genetics in medicine
Genetics in medicine
1050-1057页
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