遗传性骨病致病机制及靶向治疗研究

[1] Yixuan Cao#, Lulu Li#, Xiuzhi Ren#, Bin Mao, Yujiao Yang, Huan Mi, Yun Guan, Shan Li, Siji Zhou, Xin Guan, Tao Yang, Xiuli Zhao*. Identifying the dominant variant of a cis‐double‐variant in COL1A1 from an osteogenesis imperfecta patient and developing gene therapies. J Bone Miner Res. 2023; 38(5): 719-732.

[2] Yixuan Cao#, Yi You#, Qiong Wang#, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang, Xiuli Zhao*. Identification of six novel variants from nine Chinese families with hypophosphatemic rickets. BMC Medical Genomics. 2022; 15(1): 161.

[3] Yixuan Cao#, Xin Guan#, Shan Li, Nan Wu, Xiumin Chen, Tao Yang, Bo Yang*, Xiuli Zhao*. Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families. Mol Genet Genomic Med. 2022; 10(5): e1916.

[4] Giuliana Ascone#, Yixuan Cao#, Ineke D.C. Jansen, Irene Di Ceglie, Martijn H.J. van den Bosch, Arjen B. Blom, Peter L.E.M. van Lent, Vincent Everts, Teun J. de Vries*. Increase in the Number of Bone Marrow Osteoclast Precursors at Different Skeletal Sites, Particularly in Long Bone and Jaw Marrow in Mice Lacking IL-1RA. International Journal of Molecular Sciences. 2020; 21(11): 3774.

[5] Shan Li#, Yixuan Cao#, Han Wang#, Lulu Li, Xiuzhi Ren, Huan Mi, Yanzhou Wang, Yun Guan, Feiyue Zhao, Bin Mao, Tao Yang, Yi You, Xin Guan, Yujiao Yang, Xue Zhang*, Xiuli Zhao*. Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta. Front Genet. 2020; 11:984.

[6] Lulu Li#, Yixuan Cao#, Feiyue Zhao, Bin Mao, Xiuzhi Ren, Yanzhou Wang, Yun Guan, Yi You, Shan Li, Tao Yang, Xiuli Zhao*. Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta. Front Genet. 2019; 10:979.

[7] Yixuan Cao*, Yongqiang Wang, Sara Sprangers, Daisy I. Picavet, Michael Glogauer, Christopher A. McCulloch, Vincent Everts, Deletion of adseverin in osteoclasts affects cell structure but not bone metabolism. Calcified Tissue International. 2017; 101(2): 207-216.

[8] Yixuan Cao*, Ineke D.C. Jansen, Sara Sprangers, Teun J. de Vries, Vincent Everts. TNF-α has both stimulatory and inhibitory effects on mouse monocyte-derived osteoclastogenesis. Journal of Cellular Physiology. 2017; 232(12): 3273-3285.

[9] Yixuan Cao, Ineke D.C. Jansen, Sara Sprangers, Jan Stap, Pieter J.M. Leenen, Vincent Everts, Teun J. de Vries*. IL-1β differently stimulates proliferation and multinucleation of distinct mouse bone marrow osteoclast precursor subsets. Journal of Leukocyte Biology. 2016; 100(3): 513-523.

[10] Han Wang#, Xiumin Chen#, Xiaolu Meng, Yixuan Cao, Shirui Han, Keqiang Liu, Ximeng Zhao, Xiuli Zhao*, Xue Zhang*. The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice. Bone Research. 2024; 12(1):21.