换一批
换一批TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
作者：
Jiaqi,Liu [1]
;
Nan,Wu [2]
;
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study [3]
;
Nan,Yang [4]
;
Kazuki,Takeda [5]
;
Weisheng,Chen [6]
;
Weiyu,Li [7]
;
Renqian,Du [8]
;
Sen,Liu [9]
;
Yangzhong,Zhou [10]
;
Ling,Zhang [11]
;
Zhenlei,Liu [12]
;
Yuzhi,Zuo [1]
;
Sen,Zhao [13]
;
Robert,Blank [8]
;
Davut,Pehlivan [9]
;
Shuangshuang,Dong [14]
;
Jianguo,Zhang [1]
;
Jianxiong,Shen [2]
;
Nuo,Si [15]
;
Yipeng,Wang [2]
;
Gang,Liu [16]
;
Shugang,Li [8]
;
Yanxue,Zhao [9]
;
Hong,Zhao [2]
;
Yixin,Chen [17]
;
Yu,Zhao [1]
;
Xiaofei,Song [2]
;
Jianhua,Hu [15]
;
Mao,Lin [1]
;
Ye,Tian [2]
;
Bo,Yuan [18]
;
Keyi,Yu [14]
;
Yuchen,Niu [8]
;
Bin,Yu [9]
;
Xiaoxin,Li [1]
;
Jia,Chen [2]
;
Zihui,Yan [15]
;
Qiankun,Zhu [1]
;
Xiaolu,Meng [2]
;
Xiaoli,Chen [15]
;
Jianzhong,Su [19]
;
Xiuli,Zhao [20]
;
Xiaoyue,Wang [1]
;
Yue,Ming [1]
;
Xiao,Li [2]
;
Cathleen L,Raggio [15]
;
Baozhong,Zhang [1]
;
Xisheng,Weng [1]
;
Shuyang,Zhang [2]
;
Xue,Zhang [1]
;
Kota,Watanabe [1]
;
Morio,Matsumoto [2]
;
Japan Early Onset Scoliosis Research Group [1]
;
Li,Jin [14]
;
Yiping,Shen [1]
;
Nara L,Sobreira [1]
;
Jennifer E,Posey [2]
;
Philip F,Giampietro [13]
;
David,Valle [1]
;
Baylor-Hopkins Center for Mendelian Genomics [14]
;
Pengfei,Liu [1]
;
Zhihong,Wu [2]
;
Shiro,Ikegawa [21]
;
James R,Lupski [1]
;
Feng,Zhang [2]
;
Guixing,Qiu [21]
作者单位：
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[1]
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
[2]
Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
[3]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.
[4]
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. dr.wunan@pumch.cn.
[5]
Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.
[6]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. dr.wunan@pumch.cn.
[7]
Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.
[8]
NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.
[9]
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.
[10]
Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
[11]
Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.
[12]
Graduate School of Peking Union Medical College, Beijing, China.
[13]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[14]
Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
[15]
Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[16]
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.
[17]
Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
[18]
The McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[19]
The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[20]
Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[21]
Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.
[22]
College of Biomedical Engineering, The Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
[23]
PET-CT Center, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
[24]
Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[25]
Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA.
[26]
Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[27]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
[28]
Harvard Medical School, Boston, MA, USA.
[29]
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
[30]
Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA, USA.
[31]
Baylor Genetics Laboratory, Houston, TX, USA.
[32]
Departments of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
[33]
Texas Children's Hospital, Houston, TX, USA.
[34]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. qiuguixingpumch@126.com.
[35]
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. qiuguixingpumch@126.com.
[36]
Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. qiuguixingpumch@126.com.
[37]
主题词
动物(Animals);队列研究(Cohort Studies);疾病模型, 动物(Disease Models, Animal);基因剂量(Gene Dosage);人类(Humans);遗传方式(Inheritance Patterns);小鼠(Mice);模型, 遗传学(Models, Genetic);脊柱侧凸(Scoliosis);脊柱(Spine);T盒域蛋白质类(T-Box Domain Proteins)
DOI
10.1038/s41436-018-0377-x
PMID
30636772
发布时间
2022-02-10
- 浏览10
Genetics in medicine
Genetics in medicine
1548-1558页
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