Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.

Autor: Feng X; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing 100730, China.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Ye Y; Department of Orthopedic Surgery, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou 510080, China., Zhang J; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.; Department of Orthopaedics and Traumatology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Zhang Y; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China., Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Mak JCW; Department of Pharmacology and Pharmacy, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Otomo N; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan.; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Zhao Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Niu Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.; Department of Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China., Yonezawa Y; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan.; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Li G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Lin M; Department of Orthopedic Surgery, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China., Li X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.; Department of Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China., Cheung PWH; Department of Orthopaedics and Traumatology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Xu K; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Takeda K; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan.; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Wang S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China., Xie J; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Kotani T; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan., Choi VNT; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Song YQ; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.; Department of Medicine, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518009, China., Yang Y; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Luk KDK; Department of Orthopaedics and Traumatology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Lee KS; Center for Comparative Medicine Research, The University of Hong Kong, Hong Kong Special Administrative Region, China., Li Z; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Li PS; Center for Comparative Medicine Research, The University of Hong Kong, Hong Kong Special Administrative Region, China., Leung CYH; Center for Comparative Medicine Research, The University of Hong Kong, Hong Kong Special Administrative Region, China., Lin X; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Wang X; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.; Department of Orthopaedics and Traumatology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Qiu G; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Watanabe K; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan., Wu Z; Department of Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston 77030, TX., Ikegawa S; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston 77030, TX.; Human Genome Sequencing Center, Baylor College of Medicine, Houston 77030, TX.; Texas Children's Hospital, Houston 77030, TX.; Department of Pediatrics, Baylor College of Medicine, Houston 77030, TX., Cheung JPY; Department of Orthopaedics and Traumatology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.; Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518009, China., Zhang TJ; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China., Gao B; School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.; Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518009, China.; Centre for Translational Stem Cell Biology, Hong Kong Special Administrative Region, China.; Key Laboratory of Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China., Wu N; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, all at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Apr 30; Vol. 121 (18), pp. e2310283121. Date of Electronic Publication: 2024 Apr 26.

Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis.

Autor: Chen, Zefu, Yan, Zihui, Yu, Chenxi, Liu, Jiaqi, Zhang, Yanbin, Zhao, Sen, Lin, Jiachen, Zhang, Yuanqiang, Wang, Lianlei, Lin, Mao, Huang, Yingzhao, Li, Xiaoxin, Niu, Yuchen, Wang, Shengru, Wu, Zhihong, DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group, Qiu, Guixing, Zhang, Jianguo, Wu, Nan, Zhu, Lan

Publikováno v: Orphanet Journal of Rare Diseases; 9/15/2020, Vol. 15 Issue 1, p1-9, 9p