Zhai Y - Search Results

1

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.

Zhai Y, Wang W, Zhu YN, Li JY, Yu YH, Lai KR, Yao K. Zhai Y, et al. Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015. Int J Ophthalmol. 2015. PMID: 26558191 Free PMC article.

2

A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.

Li J, Wang Q, Fu Q, Zhu Y, Zhai Y, Yu Y, Zhang K, Yao K. Li J, et al. Among authors: zhai y. Mol Vis. 2013 Apr 5;19:767-74. Print 2013. Mol Vis. 2013. PMID: 23592913 Free PMC article.

3

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.

Yu Y, Yu Y, Chen P, Li J, Zhu Y, Zhai Y, Yao K. Yu Y, et al. Among authors: zhai y. BMC Med Genet. 2014 Jan 9;15:6. doi: 10.1186/1471-2350-15-6. BMC Med Genet. 2014. PMID: 24405844 Free PMC article.

4

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y, Li J, Zhu Y, Xia Y, Wang W, Yu Y, Yao K. Zhai Y, et al. Int J Med Sci. 2014 Jan 5;11(2):158-63. doi: 10.7150/ijms.7567. eCollection 2014. Int J Med Sci. 2014. PMID: 24465161 Free PMC article.

5

Single Nucleotide Polymorphisms of the Sirtuin 1 (SIRT1) Gene are Associated With age-Related Macular Degeneration in Chinese Han Individuals: A Case-Control Pilot Study.

Chen Z, Zhai Y, Zhang W, Teng Y, Yao K. Chen Z, et al. Among authors: zhai y. Medicine (Baltimore). 2015 Dec;94(49):e2238. doi: 10.1097/MD.0000000000002238. Medicine (Baltimore). 2015. PMID: 26656366 Free PMC article.

6

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y, Li J, Yu W, Zhu S, Yu Y, Wu M, Sun G, Gong X, Yao K. Zhai Y, et al. Sci Rep. 2017 Apr 27;7(1):1219. doi: 10.1038/s41598-017-01182-9. Sci Rep. 2017. PMID: 28450710 Free PMC article.

7

The cataract-causing mutation G75V promotes γS-crystallin aggregation by modifying and destabilizing the native structure.

Zhu S, Xi XB, Duan TL, Zhai Y, Li J, Yan YB, Yao K. Zhu S, et al. Among authors: zhai y. Int J Biol Macromol. 2018 Oct 1;117:807-814. doi: 10.1016/j.ijbiomac.2018.05.220. Epub 2018 May 30. Int J Biol Macromol. 2018. PMID: 29857103

8

A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.

Zhai Y, Zhu S, Li J, Yao K. Zhai Y, et al. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4717-4726. doi: 10.1167/iovs.19-27370. Invest Ophthalmol Vis Sci. 2019. PMID: 31725171

9

OCT Changes in 4-Year-Old Choroideremia Patient.

Zhai Y, MacDonald IM. Zhai Y, et al. Ophthalmology. 2019 Oct;126(10):1357. doi: 10.1016/j.ophtha.2019.05.026. Ophthalmology. 2019. PMID: 31543107 No abstract available.

10

A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.

Chen BB, Zhai Y, Huo YN, Yang S, Zhang ZY. Chen BB, et al. Among authors: zhai y. Ophthalmic Genet. 2022 Feb;43(1):97-103. doi: 10.1080/13816810.2021.2004431. Epub 2021 Nov 23. Ophthalmic Genet. 2022. PMID: 34809537

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