Liu JS - Search Results

1

Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells.

Fan LL, Du R, Liu JS, Jin JY, Wang CY, Dong Y, He WX, Yan RQ, Xiang R. Fan LL, et al. Among authors: liu js. Exp Mol Med. 2022 May;54(5):653-661. doi: 10.1038/s12276-022-00763-7. Epub 2022 May 20. Exp Mol Med. 2022. PMID: 35596061 Free PMC article.

2

Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.

Liu JS, Fan LL, Zhang H, Liu X, Huang H, Tao LJ, Xia K, Xiang R. Liu JS, et al. Among authors: liu x. Cardiology. 2017;136(1):10-14. doi: 10.1159/000447422. Epub 2016 Aug 20. Cardiology. 2017. PMID: 27544385

3

Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.

Liu JS, Fan LL, Li JJ, Xiang R. Liu JS, et al. Am J Cardiol. 2017 May 1;119(9):1485-1489. doi: 10.1016/j.amjcard.2017.01.011. Epub 2017 Feb 10. Am J Cardiol. 2017. PMID: 28256248

4

Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.

Fan LL, Liu JS, Huang H, Du R, Xiang R. Fan LL, et al. Among authors: liu js. J Gene Med. 2019 Feb;21(2-3):e3073. doi: 10.1002/jgm.3073. Epub 2019 Feb 11. J Gene Med. 2019. PMID: 30690801

5

Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5.

Xiang R, Li JJ, Liu JS, Fan LL, Li L, Xia K, Zhang H. Xiang R, et al. Among authors: liu js. Int J Clin Exp Pathol. 2017 Aug 1;10(8):8709-8714. eCollection 2017. Int J Clin Exp Pathol. 2017. PMID: 31966729 Free PMC article.

6

Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.

Liu JS, Huang H, Jin JY, Du R, Wang CY, Fan LL. Liu JS, et al. Mol Syndromol. 2020 Jul;11(3):130-134. doi: 10.1159/000507035. Epub 2020 Mar 28. Mol Syndromol. 2020. PMID: 32903920 Free PMC article.

7

Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis.

Wang C, Du R, Jin J, Dong Y, Liu J, Fan L, Xiang R. Wang C, et al. Am J Transl Res. 2020 Aug 15;12(8):4576-4581. eCollection 2020. Am J Transl Res. 2020. PMID: 32913531 Free PMC article.

8

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.

Fan LL, Liu L, Luo FM, Du R, Wang CY, Dong Y, Liu JS. Fan LL, et al. Among authors: liu l, liu js. Mol Genet Genomic Med. 2020 Dec;8(12):e1545. doi: 10.1002/mgg3.1545. Epub 2020 Nov 7. Mol Genet Genomic Med. 2020. PMID: 33159707 Free PMC article.

9

Erratum: Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis.

Wang C, Du R, Jin J, Dong Y, Liu J, Fan L, Xiang R. Wang C, et al. Am J Transl Res. 2021 Jun 15;13(6):7425. eCollection 2021. Am J Transl Res. 2021. PMID: 34306518 Free PMC article.

10

Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.

Fan LL, Sheng Y, Wang CY, Li YL, Liu JS. Fan LL, et al. Among authors: liu js. Front Genet. 2021 Dec 1;12:761003. doi: 10.3389/fgene.2021.761003. eCollection 2021. Front Genet. 2021. PMID: 34925452 Free PMC article.

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