Li X - Search Results

1

Loss of Wtap results in cerebellar ataxia and degeneration of Purkinje cells.

Yang Y, Huang G, Jiang X, Li X, Sun K, Shi Y, Yang Z, Zhu X. Yang Y, et al. Among authors: li x. J Genet Genomics. 2022 Sep;49(9):847-858. doi: 10.1016/j.jgg.2022.03.001. Epub 2022 Mar 15. J Genet Genomics. 2022. PMID: 35304325

2

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X. Zhu X, et al. Among authors: li s, li x. Mol Med Rep. 2020 Jul;22(1):193-200. doi: 10.3892/mmr.2020.11087. Epub 2020 Apr 22. Mol Med Rep. 2020. PMID: 32319668 Free PMC article.

3

Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A.

Sun K, Tian W, Li X, Liu W, Yang Y, Zhu X. Sun K, et al. Among authors: li x. Biomed Res Int. 2020 Jun 2;2020:7342817. doi: 10.1155/2020/7342817. eCollection 2020. Biomed Res Int. 2020. PMID: 32596364 Free PMC article.

4

Identification of Novel EYS Mutations by Targeted Sequencing Analysis.

Tian W, Li X, Li Y, Wang L, Yang Y, Sun K, Liu W, Zhou B, Lei B, Zhu X. Tian W, et al. Among authors: li y, li x. Genet Test Mol Biomarkers. 2020 Nov;24(11):745-753. doi: 10.1089/gtmb.2020.0186. Epub 2020 Oct 15. Genet Test Mol Biomarkers. 2020. PMID: 33058741

5

The phosphatidylserine flippase β-subunit Tmem30a is essential for normal insulin maturation and secretion.

Yang Y, Sun K, Liu W, Li X, Tian W, Shuai P, Zhu X. Yang Y, et al. Among authors: li x. Mol Ther. 2021 Sep 1;29(9):2854-2872. doi: 10.1016/j.ymthe.2021.04.026. Epub 2021 Apr 23. Mol Ther. 2021. PMID: 33895325 Free PMC article.

6

Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy.

Zhang S, Li X, Liu W, Zhang X, Huang L, Li S, Yang M, Zhao P, Yang J, Fei P, Zhu X, Yang Z. Zhang S, et al. Among authors: li s, li x. Genet Test Mol Biomarkers. 2021 May;25(5):309-316. doi: 10.1089/gtmb.2021.0013. Epub 2021 May 4. Genet Test Mol Biomarkers. 2021. PMID: 33945310

7

Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis.

Liu W, Peng L, Tian W, Li Y, Zhang P, Sun K, Yang Y, Li X, Li G, Zhu X. Liu W, et al. Among authors: li y, li g, li x. Dis Model Mech. 2021 Jun 1;14(6):dmm048777. doi: 10.1242/dmm.048777. Epub 2021 Jun 25. Dis Model Mech. 2021. PMID: 34080006 Free PMC article.

8

The ER membrane protein complex subunit Emc3 controls angiogenesis via the FZD4/WNT signaling axis.

Yang M, Li S, Liu W, Li X, He Y, Yang Y, Sun K, Zhang L, Tian W, Duan L, Chen H, Yao D, Yang Z, Zhu X. Yang M, et al. Among authors: li s, li x. Sci China Life Sci. 2021 Nov;64(11):1868-1883. doi: 10.1007/s11427-021-1941-7. Epub 2021 Jun 10. Sci China Life Sci. 2021. PMID: 34128175

9

Deletion of phosphatidylserine flippase β-subunit Tmem30a in satellite cells leads to delayed skeletal muscle regeneration.

Sun KX, Jiang XY, Li X, Su YJ, Wang JL, Zhang L, Yang YM, Zhu XJ. Sun KX, et al. Among authors: li x. Zool Res. 2021 Sep 18;42(5):650-659. doi: 10.24272/j.issn.2095-8137.2021.195. Zool Res. 2021. PMID: 34472226 Free PMC article.

10

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Yang Y, Li X, Wang J, Tan J, Fitzmaurice B, Nishina PM, Sun K, Tian W, Liu W, Liu X, Chang B, Zhu X. Yang Y, et al. Among authors: li x. Cell Death Dis. 2021 Oct 29;12(11):1017. doi: 10.1038/s41419-021-04331-1. Cell Death Dis. 2021. PMID: 34716303 Free PMC article.

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