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Search: WFRF:(Zhang C.) > Jin S. > Medical and Health Sciences

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1.	Jakobsson, J., et al. (author) Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 2021 In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 17:1, s. 1-382 Journal article (peer-reviewed)
2.	Jin, S. C., et al. (author) Mutations disrupting neuritogenesis genes confer risk for cerebral palsy 2020 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:10, s. 1046- Journal article (peer-reviewed)abstract Whole-exome sequencing of 250 parent-offspring trios identifies an enrichment of rare damaging de novo mutations in individuals with cerebral palsy and implicates genetically mediated dysregulation of early neuronal connectivity in the etiology of this disorder. In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eight genes had multiple damaging de novo mutations; of these, two (TUBA1AandCTNNB1) met genome-wide significance. We identified two novel monogenic etiologies,FBXO31andRHOB, and showed that theRHOBmutation enhances active-state Rho effector binding while theFBXO31mutation diminishes cyclin D levels. Candidate cerebral palsy risk genes overlapped with neurodevelopmental disorder genes. Network analyses identified enrichment of Rho GTPase, extracellular matrix, focal adhesion and cytoskeleton pathways. Cerebral palsy risk genes in enriched pathways were shown to regulate neuromotor function in aDrosophilareverse genetics screen. We estimate that 14% of cases could be attributed to an excess of damaging de novo or recessive variants. These findings provide evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Liu, X (1); Chen, L (1); Alonso, A. (1); Chen, S. (1); Chen, X. (1); Chen, Y. (1); show more...; Donadelli, M. (1); Gupta, S. (1); Hu, D. (1); Jiang, Y. (1); Jin, S. (1); Kim, H. (1); Kono, T. (1); Li, B. (1); Li, S. (1); Li, Y. (1); Liu, Y. (1); Meyer, C. (1); Mohapatra, S. (1); Nakamura, K. (1); Nilsson, P. (1); Shimizu, S. (1); Takahashi, Y. (1); Wang, C. (1); Wang, F. (1); Wang, H. (1); Wang, J. (1); Wang, K. (1); Wu, M. (1); Xu, L. (1); Yamamoto, A. (1); Yan, Z. (1); Yang, H. (1); Yang, Y. (1); Yu, J. (1); Zhang, H. (1); Zhang, L. (1); Zhang, X. (1); Zhang, Z. (1); Zhou, B. (1); Zhu, H. (1); Liu, J. (1); Zhao, Y. (1); Lange, C. (1); Li, X. (1); Zhao, L. (1); Haider, S. (1); Liu, C. (1); Liu, H. (1); Saito, T (1); show less...

University: Karolinska Institutet (2); University of Gothenburg (1); Umeå University (1); Stockholm University (1); Linköping University (1); Lund University (1); show more...; Swedish University of Agricultural Sciences (1); show less...

Language: English (2)

Research subject (UKÄ/SCB): Natural sciences (2); Medical and Health Sciences (2)Undo refine

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