Li S - Search Results

1

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

Zhao R, Liu M, Dai E, Chen C, Lv L, Peng L, He Y, Li S, Yang M. Zhao R, et al. Among authors: li s. FASEB J. 2024 Feb 29;38(4):e23493. doi: 10.1096/fj.202302387R. FASEB J. 2024. PMID: 38363575

2

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.

Liu YQ, Zhu X, Li SJ, Yang YM, Yang M, Zhao PQ, Zhu XJ. Liu YQ, et al. Yi Chuan. 2017 Mar 20;39(3):241-249. doi: 10.16288/j.yczz.16-339. Yi Chuan. 2017. PMID: 28420620

3

Loss of Tmem30a leads to photoreceptor degeneration.

Zhang L, Yang Y, Li S, Zhang S, Zhu X, Tai Z, Yang M, Liu Y, Guo X, Chen B, Jiang Z, Lu F, Zhu X. Zhang L, et al. Among authors: li s. Sci Rep. 2017 Aug 24;7(1):9296. doi: 10.1038/s41598-017-09506-5. Sci Rep. 2017. PMID: 28839191 Free PMC article.

4

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.

Li S, Yang M, Liu W, Liu Y, Zhang L, Yang Y, Sundaresan P, Yang Z, Zhu X. Li S, et al. Genet Test Mol Biomarkers. 2018 Feb;22(2):109-114. doi: 10.1089/gtmb.2017.0223. Genet Test Mol Biomarkers. 2018. PMID: 29425069

5

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.

Yang M, Li S, Liu W, Yang Y, Zhang L, Zhang S, Jiang Z, Yang Z, Zhu X. Yang M, et al. Among authors: li s. Genet Test Mol Biomarkers. 2018 Mar;22(3):165-169. doi: 10.1089/gtmb.2017.0248. Epub 2018 Feb 13. Genet Test Mol Biomarkers. 2018. PMID: 29437494

6

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.

Zhang S, Li J, Li S, Yang Y, Yang M, Yang Z, Zhu X, Zhang L. Zhang S, et al. Among authors: li s, li j. Ophthalmic Genet. 2018 Aug;39(4):487-491. doi: 10.1080/13816810.2018.1461912. Epub 2018 Apr 25. Ophthalmic Genet. 2018. PMID: 29693493

7

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Zhou Y, Li S, Huang L, Yang Y, Zhang L, Yang M, Liu W, Ramasamy K, Jiang Z, Sundaresan P, Zhu X, Yang Z. Zhou Y, et al. Among authors: li s. Hum Mol Genet. 2018 Jul 15;27(14):2563-2572. doi: 10.1093/hmg/ddy165. Hum Mol Genet. 2018. PMID: 29726989

8

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Zhou Y, Li S, Huang L, Yang Y, Zhang L, Yang M, Liu W, Ramasamy K, Jiang Z, Sundaresan P, Zhu X, Yang Z. Zhou Y, et al. Among authors: li s. Hum Mol Genet. 2018 Jul 15;27(14):2587. doi: 10.1093/hmg/ddy228. Hum Mol Genet. 2018. PMID: 29931334 No abstract available.

9

Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.

Yang Y, Sun K, Liu W, Zhang L, Peng K, Zhang S, Li S, Yang M, Jiang Z, Lu F, Zhu X. Yang Y, et al. Among authors: li s. Cell Death Dis. 2018 Sep 5;9(9):899. doi: 10.1038/s41419-018-0938-6. Cell Death Dis. 2018. PMID: 30185775 Free PMC article.

10

TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis.

Zhang S, Liu W, Yang Y, Sun K, Li S, Xu H, Yang M, Zhang L, Zhu X. Zhang S, et al. Among authors: li s. J Cell Sci. 2019 Apr 3;132(7):jcs225052. doi: 10.1242/jcs.225052. J Cell Sci. 2019. PMID: 30814335

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