{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:02:58Z","timestamp":1792612978530,"version":"4.5.0"},"reference-count":95,"publisher":"National Academy of Sciences","issue":"18","license":[{"start":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T00:00:00Z","timestamp":1714089600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82072391"],"award-info":[{"award-number":["82072391"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81930068"],"award-info":[{"award-number":["81930068"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81772299"],"award-info":[{"award-number":["81772299"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81972132"],"award-info":[{"award-number":["81972132"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82172382"],"award-info":[{"award-number":["82172382"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2019M663272"],"award-info":[{"award-number":["2019M663272"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005847","name":"Health and Medical Research Fund","doi-asserted-by":"publisher","award":["06171406"],"award-info":[{"award-number":["06171406"]}],"id":[{"id":"10.13039\/501100005847","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82172525"],"award-info":[{"award-number":["82172525"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2024,4,30]]},"abstract":"<jats:p>\n                    Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite differentiation. While Wnt\/\u00df-catenin signaling has been implicated in somite development, the function of Wnt\/planar cell polarity (Wnt\/PCP) signaling in this process remains unclear. Here, we investigated the role of\n                    <jats:italic>Vangl1<\/jats:italic>\n                    and\n                    <jats:italic>Vangl2<\/jats:italic>\n                    in vertebral development and found that their deletion causes vertebral anomalies resembling human CVMs. Analysis of exome sequencing data from multiethnic CS patients revealed a number of rare and deleterious variants in\n                    <jats:italic>VANGL1<\/jats:italic>\n                    and\n                    <jats:italic>VANGL2<\/jats:italic>\n                    , many of which exhibited loss-of-function and dominant-negative effects. Zebrafish models confirmed the pathogenicity of these variants. Furthermore, we found that\n                    <jats:italic>Vangl1<\/jats:italic>\n                    knock-in (p.R258H) mice exhibited vertebral malformations in a\n                    <jats:italic>Vangl<\/jats:italic>\n                    gene dose- and environment-dependent manner. Our findings highlight critical roles for PCP signaling in vertebral development and predisposition to CVMs in CS patients, providing insights into the molecular mechanisms underlying this disorder.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2310283121","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T12:51:31Z","timestamp":1714135891000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":12,"title":["Core planar cell polarity genes\n                    <i>VANGL1<\/i>\n                    and\n                    <i>VANGL2<\/i>\n                    in predisposition to congenital vertebral malformations"],"prefix":"10.1073","volume":"121","author":[{"given":"Xin","family":"Feng","sequence":"first","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"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"},{"name":"Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing 100730, China"},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyu","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Guangdong Provincial People\u2019s Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou 510080, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianan","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanqiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Zhao","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8234-1313","authenticated-orcid":false,"given":"Judith C. W.","family":"Mak","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Pharmacy, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nao","family":"Otomo","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengye","family":"Zhao","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchen","family":"Niu","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"},{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiro","family":"Yonezawa","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guozhuang","family":"Li","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-8370","authenticated-orcid":false,"given":"Mao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxin","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"},{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prudence Wing Hang","family":"Cheung","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kexin","family":"Xu","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengru","family":"Wang","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junjie","family":"Xie","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiaki","family":"Kotani","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa N. T.","family":"Choi","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9407-2256","authenticated-orcid":false,"given":"You-Qiang","family":"Song","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"Department of Medicine, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518009, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yang","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0547-8890","authenticated-orcid":false,"given":"Keith Dip Kei","family":"Luk","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kin Shing","family":"Lee","sequence":"additional","affiliation":[{"name":"Center for Comparative Medicine Research, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziquan","family":"Li","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pik Shan","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Comparative Medicine Research, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1102-4684","authenticated-orcid":false,"given":"Connie Y. H.","family":"Leung","sequence":"additional","affiliation":[{"name":"Center for Comparative Medicine Research, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaochen","family":"Lin","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolu","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guixing","family":"Qiu","sequence":"additional","affiliation":[{"name":"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"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Japanese Early Onset Scoliosis Research Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Wu","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston 77030, TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[{"name":"Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9907-9246","authenticated-orcid":false,"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston 77030, TX"},{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston 77030, TX"},{"name":"Texas Children\u2019s Hospital, Houston 77030, TX"},{"name":"Department of Pediatrics, Baylor College of Medicine, Houston 77030, TX"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7052-0875","authenticated-orcid":false,"given":"Jason Pui Yin","family":"Cheung","sequence":"additional","affiliation":[{"name":"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"},{"name":"Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518009, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry Jianguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"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"},{"name":"Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing 100730, China"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8684-5199","authenticated-orcid":false,"given":"Bo","family":"Gao","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China"},{"name":"Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518009, China"},{"name":"Centre for Translational Stem Cell Biology, Hong Kong Special Administrative Region, China"},{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9429-2889","authenticated-orcid":false,"given":"Nan","family":"Wu","sequence":"additional","affiliation":[{"name":"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"},{"name":"Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing 100730, China"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guixing","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianguo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengru","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziquan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengye","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guozhuang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanpeng","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihao","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kexin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianle","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoran","family":"Maheshati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingyi","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangjie","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zihua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhifa","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangyu","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanqiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lian","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianlei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiachen","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mao","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuchen","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangxi","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuai","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yueyan","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyu","family":"Ye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hengqiang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zefu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zihui","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenxi","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiashen","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nao","family":"Otomo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiro","family":"Yonezawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoji","family":"Ogura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriaki","family":"Kawakami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiaki","family":"Koatani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teppei","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koki","family":"Uno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Sudo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Inami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Taneichi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Shigematsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Sugawara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Taniguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shohei","family":"Minami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaya","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morio","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kota","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2024,4,26]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.05.011"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1885-9"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.2.174"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.55608"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.6.1211"},{"key":"e_1_3_4_6_2","first-page":"100074","article-title":"Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability","volume":"3","author":"Zhang C.","year":"2022","unstructured":"C. Zhang , Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 3, 100074 (2022).","journal-title":"HGG Adv."},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12401"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.010"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.005"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.10.002"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0040115"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-394592-1.00008-9"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-100814-125315"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.11"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.06.011"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1222002"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00164"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24025"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1242\/bio.20148375"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.131037"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712126105"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature09129"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2017.10.030"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1001000203"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(98)00029-X"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa060651"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0910820"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01515.x"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21026"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.121.2.439"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1007417108"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.08.017"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.14.1827"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature03591"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1092303"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.121.3.877"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0326"},{"key":"e_1_3_4_38_2","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.00160","article-title":"A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network","volume":"2","author":"Guo Y.","year":"2013","unstructured":"Y. Guo, G. Zanetti, R. Schekman, A novel GTP-binding protein-adaptor protein complex responsible for export of Vangl2 from the trans Golgi network. Elife 2, e00160 (2013).","journal-title":"Elife"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22577"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1038\/90081"},{"key":"e_1_3_4_41_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-017-9721-8"},{"key":"e_1_3_4_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2017.127"},{"key":"e_1_3_4_43_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abg2099"},{"key":"e_1_3_4_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.01.001"},{"key":"e_1_3_4_45_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.45107"},{"key":"e_1_3_4_46_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.06.010"},{"key":"e_1_3_4_47_2","doi-asserted-by":"publisher","DOI":"10.21769\/BioProtoc.4533"},{"key":"e_1_3_4_48_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi101286d"},{"key":"e_1_3_4_49_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi500400g"},{"key":"e_1_3_4_50_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046213"},{"key":"e_1_3_4_51_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncb828"},{"key":"e_1_3_4_52_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11356-015-4144-0"},{"key":"e_1_3_4_53_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195712052572306"},{"key":"e_1_3_4_54_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.02.054"},{"key":"e_1_3_4_55_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.069310"},{"key":"e_1_3_4_56_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3891"},{"key":"e_1_3_4_57_2","doi-asserted-by":"publisher","DOI":"10.1159\/000345329"},{"key":"e_1_3_4_58_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1406829"},{"key":"e_1_3_4_59_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23907"},{"key":"e_1_3_4_60_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1453"},{"key":"e_1_3_4_61_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-45442-5"},{"key":"e_1_3_4_62_2","doi-asserted-by":"publisher","DOI":"10.1002\/jor.24805"},{"key":"e_1_3_4_63_2","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080503"},{"key":"e_1_3_4_64_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00534"},{"key":"e_1_3_4_65_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00520.x"},{"key":"e_1_3_4_66_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081213"},{"key":"e_1_3_4_67_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0377-x"},{"key":"e_1_3_4_68_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106823"},{"key":"e_1_3_4_69_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12918"},{"key":"e_1_3_4_70_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23168"},{"key":"e_1_3_4_71_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.20125"},{"key":"e_1_3_4_72_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aat5056"},{"key":"e_1_3_4_73_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.03.005"},{"key":"e_1_3_4_74_2","first-page":"1153","article-title":"Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice","volume":"7","author":"Murdoch J. N.","year":"2014","unstructured":"J. N. Murdoch , Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice. Dis. Model Mech. 7, 1153\u20131163 (2014).","journal-title":"Dis. Model Mech."},{"key":"e_1_3_4_75_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02172-0"},{"key":"e_1_3_4_76_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0257-3"},{"key":"e_1_3_4_77_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-21372-4"},{"key":"e_1_3_4_78_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00586-011-1818-2"},{"key":"e_1_3_4_79_2","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.22.00277"},{"key":"e_1_3_4_80_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109501"},{"key":"e_1_3_4_81_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.20.3955"},{"key":"e_1_3_4_82_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9921"},{"key":"e_1_3_4_83_2","doi-asserted-by":"publisher","DOI":"10.1159\/000091714"},{"key":"e_1_3_4_84_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03828-1"},{"key":"e_1_3_4_85_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.06.021"},{"key":"e_1_3_4_86_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.10.030"},{"key":"e_1_3_4_87_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2021.06.011"},{"key":"e_1_3_4_88_2","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0000000000001927"},{"key":"e_1_3_4_89_2","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0000000000002497"},{"key":"e_1_3_4_90_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105224"},{"key":"e_1_3_4_91_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105920"},{"key":"e_1_3_4_92_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.38"},{"key":"e_1_3_4_93_2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3002243"},{"key":"e_1_3_4_94_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-13-134"},{"key":"e_1_3_4_95_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1073"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2310283121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T12:52:22Z","timestamp":1714135942000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/10.1073\/pnas.2310283121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,26]]},"references-count":95,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2024,4,30]]}},"alternative-id":["10.1073\/pnas.2310283121"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2310283121","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,26]]},"assertion":[{"value":"2023-06-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2310283121"}}