Author

Xiaoxin Li

Chinese Academy of Medical Sciences & Peking Union Medical CollegeORCID 0000-0002-8645-4331Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Lianlei WangiD· 3 shared Nan WuiD· 3 shared Sen LiuiD· 3 shared Sen ZhaoiD· 3 shared Shengru WangiD· 3 shared Yuchen NiuiD· 3 shared Guixing QiuiD· 2 shared James R. LupskiiD· 2 shared

Activity by Year

2019-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Lianlei WangORCID

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3 papers

Recent·Most cited

EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis

Lianlei Wang, Xinyu Yang, Sen Zhao, Pengfei Zheng, Wen Wen, Kexin Xu, Xi Cheng, Qing Li, Anas M. Khanshour, Yoshinao Koike, Junjun Liu, Xin Fan, Nao Otomo, Zefu Chen, Yaqi Li, , Nan Wu

This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.

eLife · Jul 15, 2025Peer-reviewedGenetics

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis

Lianlei Wang, Zhaoyang Liu, Sen Zhao, Kexin Xu, Valeria Aceves, Cheng Qiu, Hong Colleen Feng, Fangzhou Bian, Jingyu He, Christina J. Song, Benjamin Troutwine, Lian Liu, Samuel Ma, Yuchen Niu, Shengru Wang, , Jiashen Shao

The paper identifies a novel SOX9 variant in the TAM domain linked to axial skeletal dysplasia and scoliosis, showing reduced protein stability and recapitulating human phenotypes in mice.

Proceedings of the National Academy of Sciences · Jan 24, 2025Peer-reviewedGenetic & Genomic Medicine

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Wei‐Sheng Chen, Zeynep Coban‐Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, , Nan Wu

The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.

Molecular Genetics & Genomic Medicine · Nov 27, 2019Peer-reviewedGenetics