Liu X - 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

Role of abnormal energy metabolism in the progression of chronic kidney disease and drug intervention.

Liu X, Du H, Sun Y, Shao L. Liu X, et al. Ren Fail. 2022 Dec;44(1):790-805. doi: 10.1080/0886022X.2022.2072743. Ren Fail. 2022. PMID: 35535500 Free PMC article.

3

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: liu x. Nephrology (Carlton). 2022 Oct;27(10):810-814. doi: 10.1111/nep.14086. Epub 2022 Aug 22. Nephrology (Carlton). 2022. PMID: 35960161

4

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.

5

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.

Liu X, Shi X, Xin Q, Liu Z, Pan F, Qiao D, Chen M, Zhang Y, Guo W, Li C, Zhang Y, Shao L, Zhang R. Liu X, et al. Among authors: liu z. BMC Genomics. 2023 Jul 19;24(1):407. doi: 10.1186/s12864-023-09444-9. BMC Genomics. 2023. PMID: 37468838 Free PMC article.

6

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: liu x. Clin Genet. 2024 Mar;105(3):323-328. doi: 10.1111/cge.14460. Epub 2023 Nov 27. Clin Genet. 2024. PMID: 38009794

7

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

Zhang R, Lang Y, Shi X, Zhang Y, Liu X, Pan F, Qiao D, Teng X, Shao L. Zhang R, et al. Among authors: liu x. Mol Genet Genomic Med. 2024 Feb;12(2):e2395. doi: 10.1002/mgg3.2395. Mol Genet Genomic Med. 2024. PMID: 38400605 Free PMC article.

8

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Liu X, Wang H, Zhang Y, Zhang R, Zhang R, Shi X, Pan F, Qiao D, Xin Q, Liu Z, Zhang Y, Li C, Lang Y, Shao L. Liu X, et al. Among authors: liu z. Nephrology (Carlton). 2024 Aug;29(8):541-546. doi: 10.1111/nep.14300. Epub 2024 Apr 7. Nephrology (Carlton). 2024. PMID: 38584358

9

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.

Wang Z, Sun Y, Zhang Y, Zhang Y, Zhang R, Li C, Liu X, Pan F, Qiao D, Shi X, Zhang B, Xu N, Bottillo I, Shao L. Wang Z, et al. Among authors: liu x. Clin Genet. 2024 Sep;106(3):336-341. doi: 10.1111/cge.14546. Epub 2024 May 15. Clin Genet. 2024. PMID: 38747114

10

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay.

Pan F, Zhang R, Liu X, Shi X, Xin Q, Qiao D, Li C, Zhang Y, Chen M, Guo W, Luan S, Shao L. Pan F, et al. Among authors: liu x. Front Genet. 2024 May 22;15:1353674. doi: 10.3389/fgene.2024.1353674. eCollection 2024. Front Genet. 2024. PMID: 38841723 Free PMC article.

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