Qin Y - Search Results

1

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.

Qin Y, Gao P, Yu S, Li J, Huang Y, Jia D, Tang Z, Li P, Liu F, Liu M. Qin Y, et al. Mol Vis. 2020 Oct 4;26:670-678. eCollection 2020. Mol Vis. 2020. PMID: 33088171 Free PMC article.

2

Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.

Liu F, Chen J, Yu S, Raghupathy RK, Liu X, Qin Y, Li C, Huang M, Liao S, Wang J, Zou J, Shu X, Tang Z, Liu M. Liu F, et al. Among authors: qin y. Hum Mol Genet. 2015 Aug 15;24(16):4648-59. doi: 10.1093/hmg/ddv197. Epub 2015 Jun 1. Hum Mol Genet. 2015. PMID: 26034134

3

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.

Liu Y, Wang J, Qin Y, Huang C, Archacki S, Ma J, Li D, Liu M. Liu Y, et al. Among authors: qin y. Clin Chim Acta. 2016 Feb 15;454:124-9. doi: 10.1016/j.cca.2016.01.009. Epub 2016 Jan 12. Clin Chim Acta. 2016. PMID: 26794421

4

Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.

Wang J, Liu Y, Liu F, Huang C, Han S, Lv Y, Liu CJ, Zhang S, Qin Y, Ling L, Gao M, Yu S, Li C, Huang M, Liao S, Hu X, Lu Z, Liu X, Jiang T, Tang Z, Zhang H, Guo AY, Liu M. Wang J, et al. Among authors: qin y. Sci Rep. 2016 Apr 7;6:24226. doi: 10.1038/srep24226. Sci Rep. 2016. PMID: 27052676 Free PMC article.

5

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Gao M, Zhang S, Liu C, Qin Y, Archacki S, Jin L, Wang Y, Liu F, Chen J, Liu Y, Wang J, Huang M, Liao S, Tang Z, Guo AY, Jiang F, Liu M. Gao M, et al. Among authors: qin y. Mol Vis. 2016 Mar 18;22:234-42. eCollection 2016. Mol Vis. 2016. PMID: 27081294 Free PMC article.

6

[Report of a pedigree affected with congenital heart disease].

Ding W, Zeng F, Qin Y, Liu M. Ding W, et al. Among authors: qin y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):890. doi: 10.3760/cma.j.issn.1003-9406.2016.06.035. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27984630 Chinese. No abstract available.

7

Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.

Qin Y, Liu F, Yu S, Yang L, Gao M, Tang Z, Guo AY, Zhang M, Li P, Liu M. Qin Y, et al. Eye (Lond). 2017 May;31(5):815-817. doi: 10.1038/eye.2016.327. Epub 2017 Jan 20. Eye (Lond). 2017. PMID: 28106895 Free PMC article. No abstract available.

8

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.

Liu F, Qin Y, Yu S, Soares DC, Yang L, Weng J, Li C, Gao M, Lu Z, Hu X, Liu X, Jiang T, Liu JY, Shu X, Tang Z, Liu M. Liu F, et al. Among authors: qin y. J Biol Chem. 2017 Apr 14;292(15):6225-6239. doi: 10.1074/jbc.M116.760314. Epub 2017 Feb 16. J Biol Chem. 2017. PMID: 28209709 Free PMC article.

9

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.

Lu Z, Hu X, Liu F, Soares DC, Liu X, Yu S, Gao M, Han S, Qin Y, Li C, Jiang T, Luo D, Guo AY, Tang Z, Liu M. Lu Z, et al. Among authors: qin y. Sci Rep. 2017 Apr 5;7:46098. doi: 10.1038/srep46098. Sci Rep. 2017. PMID: 28378834 Free PMC article.

10

CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1.

Hu X, Lu Z, Yu S, Reilly J, Liu F, Jia D, Qin Y, Han S, Liu X, Qu Z, Lv Y, Li J, Huang Y, Jiang T, Jia H, Wang Q, Liu J, Shu X, Tang Z, Liu M. Hu X, et al. Among authors: qin y. Autophagy. 2019 Mar;15(3):453-465. doi: 10.1080/15548627.2018.1520548. Epub 2018 Sep 25. Autophagy. 2019. PMID: 30205735 Free PMC article.

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