Zhang R - Search Results

1

The pulse light mode enhances the effect of photobiomodulation on B16F10 melanoma cells through autophagy pathway.

Chen Z, Zhang R, Qin H, Jiang H, Wang A, Zhang X, Huang S, Sun M, Fan X, Lu Z, Li Y, Liu S, Liu M. Chen Z, et al. Among authors: zhang r, zhang x. Lasers Med Sci. 2023 Feb 15;38(1):71. doi: 10.1007/s10103-023-03733-1. Lasers Med Sci. 2023. PMID: 36790539

2

Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.

Zhang R, Wang C, Lang Y, Gao Y, Chen Z, Lu J, Zhao X, Shao L. Zhang R, et al. Genet Test Mol Biomarkers. 2018 Oct;22(10):599-606. doi: 10.1089/gtmb.2018.0057. Epub 2018 Sep 25. Genet Test Mol Biomarkers. 2018. PMID: 30256676

3

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.

Zhang R, Chen Z, Lang Y, Shao S, Cai Y, You Q, Sun Y, Wang S, Shi X, Liu Z, Guo W, Han Y, Shao L. Zhang R, et al. Ren Fail. 2020 Nov;42(1):958-965. doi: 10.1080/0886022X.2020.1818578. Ren Fail. 2020. PMID: 32924720 Free PMC article.

4

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.

Zhang R, Chen Z, Song Q, Wang S, Liu Z, Zhao X, Shi X, Guo W, Lang Y, Bottillo I, Shao L. Zhang R, et al. Hum Mutat. 2021 Sep;42(9):1153-1164. doi: 10.1002/humu.24246. Epub 2021 Jun 30. Hum Mutat. 2021. PMID: 34157794

5

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report.

Zhao X, Sui A, Cui L, Liu Z, Zhang R, Han Y, Shao L. Zhao X, et al. Among authors: zhang r. Clin Case Rep. 2022 Nov 12;10(11):e6561. doi: 10.1002/ccr3.6561. eCollection 2022 Nov. Clin Case Rep. 2022. PMID: 36381051 Free PMC article.

6

Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.

Liu Z, Zhang H, Zhao S, Zhang Q, Zhang R, Han Y, Shao L, Zhao X. Liu Z, et al. Among authors: zhang r, zhang q, zhang h. Nephrology (Carlton). 2021 Dec;26(12):1018-1025. doi: 10.1111/nep.13963. Nephrology (Carlton). 2021. PMID: 34387384

7

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis.

Guo W, Song Q, Zhang R, Xin Q, Liu Z, Lang Y, Zhao X, Shao L. Guo W, et al. Among authors: zhang r. Clin Genet. 2021 Oct;100(4):440-446. doi: 10.1111/cge.14011. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34159584

8

Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.

Liu Z, Sui A, Wang S, Cui L, Xin Q, Zhang R, Han Y, Shao L, Zhao X. Liu Z, et al. Among authors: zhang r. Hum Mol Genet. 2022 Nov 28;31(23):4006-4018. doi: 10.1093/hmg/ddac148. Hum Mol Genet. 2022. PMID: 35796549

9

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

Guo W, Shao Y, Lang Y, Wang H, Lin Y, Liu X, Zhang R, Shao L. Guo W, et al. Among authors: zhang r. Nephrology (Carlton). 2022 Oct;27(10):810-814. doi: 10.1111/nep.14086. Epub 2022 Aug 22. Nephrology (Carlton). 2022. PMID: 35960161

10

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

Li C, Zhang R, Pan F, Xin Q, Shi X, Guo W, Qiao D, Wang Z, Zhang Y, Liu X, Zhang Y, Shao L. Li C, et al. Among authors: zhang r, zhang y. Clin Genet. 2024 Mar;105(3):323-328. doi: 10.1111/cge.14460. Epub 2023 Nov 27. Clin Genet. 2024. PMID: 38009794

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