ArticleProceedings of the National Academy of Sciences of the United States of America2025
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
–field-weighted citation impact
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- dubTAGs enable on-demand stabilization for tunable and reversible control of endogenous protein levels.bioRxiv : the preprint server for biology · 2026Article
- Sox11 deficiency induces paravertebral muscle injury and scoliosis via Mlxipl upregulation.Genes & diseases · 2026Article
- Genetic interaction betweenbioRxiv : the preprint server for biology · 2026Article
- Genetic interaction betweenResearch square · 2026Article
- Evaluation of Colombian silk fibroin hydrogels functionalized with recombinant LSECtin for intervertebral disc tissue engineering.PloS one · 2026Article
- [Growth plate regulation and short stature: mechanistic insights and therapeutic advances].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsReview
Corrections and comments
- Update of
Authors and funding
25 authors.
Lianlei Wang *Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.ORCID 0000-0002-7111-4879
Zhaoyang Liu *Center for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033.ORCID 0000-0002-8032-1167
Sen Zhao *Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Kexin Xu *Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.ORCID 0009-0007-0502-4430
Valeria AcevesDepartment of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Dell Medical School, Austin, TX 78723.ORCID 0009-0008-3127-1037
Cheng QiuDepartment of Orthopedic Surgery, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China.ORCID 0000-0002-8766-5499
Hong Colleen FengCenter for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033.
Fangzhou BianCenter for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033.
Jingyu HeCenter for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033.
Christina J SongDepartment of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Dell Medical School, Austin, TX 78723.ORCID 0009-0000-7235-6768
Benjamin TroutwineDepartment of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Dell Medical School, Austin, TX 78723.
Lian LiuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Samuel MaDepartment of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Dell Medical School, Austin, TX 78723.
Yuchen NiuBeijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Beijing 100730, China.
Shengru WangDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Suomao YuanDepartment of Orthopedic Surgery, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China.ORCID 0000-0001-5218-0654
Xiaoxin LiBeijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Beijing 100730, China.
Lina ZhaoBeijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Beijing 100730, China.
Xinyu LiuDepartment of Orthopedic Surgery, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China.ORCID 0000-0002-4347-1633
Guixing QiuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Zhihong WuBeijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Beijing 100730, China.
Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study group
Terry Jianguo ZhangDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Ryan S GrayDepartment of Nutritional Sciences, Dell Pediatric Research Institute, The University of Texas at Austin, Dell Medical School, Austin, TX 78723.ORCID 0000-0001-9668-6497
Nan WuDepartment of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.ORCID 0000-0002-9429-2889
Funding
Towards a Mechanistic Undestanding of Adolscent Idiopathic ScoliosisR01AR072009 · NIAMS · UNIVERSITY OF TEXAS AT AUSTIN · PI Ryan Scott Gray · 2017 to 2026
$3.9MAnalyzing the role of cAMP and STAT3 signaling in cartilage homeostasis and osteoarthritis developmentR00AR077090 · NIAMS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI LIU, ZHAOYANG · 2023 to 2025
$686kCAMS Innovation Fund for Medical Sciences 2021-I2M-1-051CAMS Innovation Fund for Medical Sciences 2021-I2M-1-052CAMS Innovation Fund for Medical Sciences 2023-I2M-C&T-A-003HHS | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) R00AR077090HHS | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) R01AR072009MOST | National Key Research and Development Program of China (NKPs) 2022YFC2703102MOST | National Key Research and Development Program of China (NKPs) 2023YFC2507700MOST | National Key Research and Development Program of China (NKPs) 2023YFC2507701MOST | National Natural Science Foundation of China (NSFC) 2102522MOST | National Natural Science Foundation of China (NSFC) 81874022 82172483MOST | National Natural Science Foundation of China (NSFC) 81930068MOST | National Natural Science Foundation of China (NSFC) 82072391MOST | National Natural Science Foundation of China (NSFC) 82172382National High-Level Hospital Clinical Research Funding 2022-PUMCH-C-033National High-Level Hospital Clinical Research Funding 2022-PUMCH-D-004NIAMS NIH HHS R00 AR077090NIAMS NIH HHS R01 AR072009Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences No. 2019PT320025Shandong Natural Science Foundation ZR202102210113University of Southern California (SC) start-up funding
Abstract
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of
Indexed as
ScoliosisSOX9 Transcription FactorAnimalsFemaleHumansMaleMiceMutation, MissenseProtein DomainsSpineTranscriptional ActivationSOX9 protein, humanSox9 protein, mouseSOX9 Transcription Factorcampomelic dysplasiacongenital vertebral malformationsscoliosisskeletal dysplasiaSOX9 (SRY-Box 9)
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.