Liu Z - Search Results

1

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.

Shi X, Wang H, Zhang R, Liu Z, Guo W, Wang S, Liu X, Lang Y, Bottillo I, Dong B, Shao L. Shi X, et al. Among authors: liu z, liu x. Mol Genet Genomic Med. 2023 Apr;11(4):e2128. doi: 10.1002/mgg3.2128. Epub 2023 Jan 3. Mol Genet Genomic Med. 2023. PMID: 36597580 Free PMC article.

2

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.

Han Y, Cheng H, Shao S, Lang Y, Zhao X, Lin Y, Wang S, Shi X, Liu Z, Shao L. Han Y, et al. Among authors: liu z. Endocrine. 2020 Apr;68(1):192-202. doi: 10.1007/s12020-019-02156-9. Epub 2019 Dec 13. Endocrine. 2020. PMID: 31834604

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. Among authors: liu z. Ren Fail. 2020 Nov;42(1):958-965. doi: 10.1080/0886022X.2020.1818578. Ren Fail. 2020. PMID: 32924720 Free PMC article.

4

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.

Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L. Wang S, et al. Among authors: liu z. Front Genet. 2020 Nov 5;11:585064. doi: 10.3389/fgene.2020.585064. eCollection 2020. Front Genet. 2020. PMID: 33250922 Free PMC article.

5

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. Among authors: liu z. Hum Mutat. 2021 Sep;42(9):1153-1164. doi: 10.1002/humu.24246. Epub 2021 Jun 30. Hum Mutat. 2021. PMID: 34157794

6

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: liu z. Clin Genet. 2021 Oct;100(4):440-446. doi: 10.1111/cge.14011. Epub 2021 Jun 28. Clin Genet. 2021. PMID: 34159584

7

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report.

Liu Z, Wang S, Zhang R, Wang C, Lu J, Shao L. Liu Z, et al. BMC Med Genomics. 2021 Aug 4;14(1):198. doi: 10.1186/s12920-021-01047-1. BMC Med Genomics. 2021. PMID: 34348722 Free PMC article.

8

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. Nephrology (Carlton). 2021 Dec;26(12):1018-1025. doi: 10.1111/nep.13963. Nephrology (Carlton). 2021. PMID: 34387384

9

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. Hum Mol Genet. 2022 Nov 28;31(23):4006-4018. doi: 10.1093/hmg/ddac148. Hum Mol Genet. 2022. PMID: 35796549

10

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay.

Xin Q, Liu Q, Liu Z, Shi X, Liu X, Zhang R, Hong Y, Zhao X, Shao L. Xin Q, et al. Among authors: liu z, liu x, liu q. Front Genet. 2022 Aug 25;13:961384. doi: 10.3389/fgene.2022.961384. eCollection 2022. Front Genet. 2022. PMID: 36092934 Free PMC article.

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