Xing QH - Search Results

1

Loss of hepatocyte Usp53 protects mice from a form of xenobiotic-induced liver injury.

Ding J, Chi H, Qiu YL, Wang RX, Yang J, She HY, Zhang J, Ling V, Xing QH, Wang JS. Ding J, et al. Among authors: xing qh. Biochim Biophys Acta Mol Basis Dis. 2024 Dec 19;1871(3):167624. doi: 10.1016/j.bbadis.2024.167624. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 39705897 Review.

2

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Qiu YL, Gong JY, Feng JY, Wang RX, Han J, Liu T, Lu Y, Li LT, Zhang MH, Sheps JA, Wang NL, Yan YY, Li JQ, Chen L, Borchers CH, Sipos B, Knisely AS, Ling V, Xing QH, Wang JS. Qiu YL, et al. Among authors: xing qh. Hepatology. 2017 May;65(5):1655-1669. doi: 10.1002/hep.29020. Epub 2017 Mar 23. Hepatology. 2017. PMID: 28027573 Free PMC article.

3

Genetic variants in the HLA region contribute to the risk of cerebral palsy.

Cheng Y, Xu Y, Li H, Qiao Y, Wang Y, Su Y, Zhang J, Wang X, Song L, Ding J, Wang D, Zhu C, Xing Q. Cheng Y, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Mar;1870(3):167008. doi: 10.1016/j.bbadis.2023.167008. Epub 2023 Dec 30. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38163449 Free article.

4

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ⁴-3-Oxosteroid-5β-Reductase Deficiency.

Zhao J, Qiu YL, Wang L, Li ZD, Xie XB, Lu Y, Setchell KDR, Cheng Y, Xing QH, Wang JS. Zhao J, et al. Among authors: xing qh. J Mol Diagn. 2023 Apr;25(4):227-233. doi: 10.1016/j.jmoldx.2023.01.004. Epub 2023 Feb 4. J Mol Diagn. 2023. PMID: 36739965 Free article.

5

TJP2 hepatobiliary disorders: Novel variants and clinical diversity.

Zhang J, Liu LL, Gong JY, Hao CZ, Qiu YL, Lu Y, Feng JY, Li JQ, Li ZD, Wang MX, Xing QH, Knisely AS, Wang JS. Zhang J, et al. Among authors: xing qh. Hum Mutat. 2020 Feb;41(2):502-511. doi: 10.1002/humu.23947. Epub 2019 Nov 28. Hum Mutat. 2020. PMID: 31696999

6

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS. Luan W, et al. Among authors: xing qh. J Med Genet. 2021 Aug;58(8):514-525. doi: 10.1136/jmedgenet-2019-106706. Epub 2020 Jul 31. J Med Genet. 2021. PMID: 32737136

7

MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.

Wang L, Qiu YL, Xu HM, Zhu J, Li SJ, OuYang WX, Yang YF, Lu Y, Xie XB, Xing QH, Wang JS. Wang L, et al. Among authors: xing qh. Liver Int. 2022 Feb;42(2):402-411. doi: 10.1111/liv.15104. Epub 2021 Nov 29. Liver Int. 2022. PMID: 34811877

8

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.

Qiu YL, Wang L, Huang M, Lian M, Wang F, Gong Y, Ma X, Hao CZ, Zhang J, Li ZD, Xing QH, Cao M, Wang JS. Qiu YL, et al. Among authors: xing qh. J Cell Physiol. 2022 Jun;237(6):2713-2723. doi: 10.1002/jcp.30788. Epub 2022 May 27. J Cell Physiol. 2022. PMID: 35621037

9

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome.

Wang YG, Sun SP, Qiu YL, Xing QH, Lu W. Wang YG, et al. Among authors: xing qh. BMC Med Genet. 2018 Aug 7;19(1):139. doi: 10.1186/s12881-018-0653-2. BMC Med Genet. 2018. PMID: 30086703 Free PMC article.

10

Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.

Zhang J, Zhang Y, Shang Q, Cheng Y, Su Y, Zhang J, Wang T, Ding J, Li Y, Xie Y, Xing Q. Zhang J, et al. Mov Disord. 2024 Mar;39(3):498-509. doi: 10.1002/mds.29694. Epub 2023 Dec 26. Mov Disord. 2024. PMID: 38148610

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