Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
作者:
Nan,Yang [1]
;
Nan,Wu [2]
;
Shuangshuang,Dong [3]
;
Ling,Zhang [4]
;
Yanxue,Zhao [5]
;
Weisheng,Chen [5]
;
Renqian,Du [6]
;
Chengcheng,Song [3]
;
Xiaojun,Ren [3]
;
Jiaqi,Liu [7]
;
Davut,Pehlivan [8]
;
Zhenlei,Liu [9]
;
Jia,Rao [10]
;
Chunyan,Wang [10]
;
Sen,Zhao [5]
;
Amy M,Breman [11]
;
Huadan,Xue [12]
;
Hao,Sun [12]
;
Jianxiong,Shen [13]
;
Shuyang,Zhang [14]
;
Jennifer E,Posey [6]
;
Hong,Xu [10]
;
Li,Jin [4]
;
Jianguo,Zhang [13]
;
Pengfei,Liu [11]
;
Simone,Sanna-Cherchi [15]
;
Guixing,Qiu [13]
;
Zhihong,Wu [16]
;
James R,Lupski [17]
;
Feng,Zhang [18]
作者单位:
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China.
[1]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
[2]
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.
[3]
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China.
[4]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[5]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
[6]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[7]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Texas Children's Hospital, Houston, Texas, USA.
[8]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.
[9]
Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China.
[10]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Baylor Genetics, Houston, Texas, USA.
[11]
Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[12]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
[13]
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[14]
Division of Nephrology, Department of Medicine, Columbia University, New York, USA.
[15]
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
[16]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Texas Children's Hospital, Houston, Texas, USA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
[17]
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China; State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, China. Electronic address: zhangfeng@fudan.edu.cn.
[18]
主题词
动物(Animals);人类(Humans);肾(Kidney);小鼠(Mice);回顾性研究(Retrospective Studies);脊柱侧凸(Scoliosis);T盒域蛋白质类(T-Box Domain Proteins);泌尿生殖系统畸形(Urogenital Abnormalities);膀胱输尿管返流(Vesico-Ureteral Reflux)
DOI
10.1016/j.kint.2020.04.045
PMID
32450157
发布时间
2021-10-02
- 浏览8

Kidney international
Kidney international
1020-1030页
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