125 related articles for article (PubMed ID: 31254514)
1. Biochemical characterization of G64W mutant of acidic beta-crystallin 4.
Li W; Ji Q; Wei Z; Chen YL; Zhang Z; Yin X; Aghmiuni SK; Liu M; Chen W; Shi L; Chen Q; Du X; Yu L; Cao MJ; Wang Z; Huang S; Jin T; Wang Q
Exp Eye Res; 2019 Sep; 186():107712. PubMed ID: 31254514
[TBL] [Abstract][Full Text] [Related]
2. Probing the changes in gene expression due to α-crystallin mutations in mouse models of hereditary human cataract.
Andley UP; Tycksen E; McGlasson-Naumann BN; Hamilton PD
PLoS One; 2018; 13(1):e0190817. PubMed ID: 29338044
[TBL] [Abstract][Full Text] [Related]
3. Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.
Ma Z; Yao W; Chan CC; Kannabiran C; Wawrousek E; Hejtmancik JF
Biochim Biophys Acta; 2016 Jun; 1862(6):1214-27. PubMed ID: 26851658
[TBL] [Abstract][Full Text] [Related]
4. Alteration of protein-protein interactions of congenital cataract crystallin mutants.
Fu L; Liang JJ
Invest Ophthalmol Vis Sci; 2003 Mar; 44(3):1155-9. PubMed ID: 12601044
[TBL] [Abstract][Full Text] [Related]
5. In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.
Wang Z; Huang C; Lv H; Zhang M; Li X
PLoS One; 2020; 15(1):e0227859. PubMed ID: 31935276
[TBL] [Abstract][Full Text] [Related]
6. Genetics of crystallins: cataract and beyond.
Graw J
Exp Eye Res; 2009 Feb; 88(2):173-89. PubMed ID: 19007775
[TBL] [Abstract][Full Text] [Related]
7. Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W; Xiao X; Li S; Guo X; Zhang Q
Mol Vis; 2011; 17():2197-206. PubMed ID: 21866213
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.
Wang KJ; Wang S; Cao NQ; Yan YB; Zhu SQ
Hum Mutat; 2011 Mar; 32(3):E2050-60. PubMed ID: 21972112
[TBL] [Abstract][Full Text] [Related]
9. Heteromeric formation with βA3 protects the low thermal stability of βB1-L116P.
Xu J; Zhang Y; Liu J; Hu L; Luo C; Yao K; Chen X
Br J Ophthalmol; 2023 Nov; 107(12):1936-1942. PubMed ID: 36126102
[TBL] [Abstract][Full Text] [Related]
10. Truncation of motifs III and IV in human lens betaA3-crystallin destabilizes the structure.
Gupta R; Srivastava K; Srivastava OP
Biochemistry; 2006 Aug; 45(33):9964-78. PubMed ID: 16906755
[TBL] [Abstract][Full Text] [Related]
11. Interaction of βA3-Crystallin with Deamidated Mutants of αA- and αB-Crystallins.
Tiwary E; Hegde S; Purushotham S; Deivanayagam C; Srivastava O
PLoS One; 2015; 10(12):e0144621. PubMed ID: 26657544
[TBL] [Abstract][Full Text] [Related]
12. Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
Siggs OM; Javadiyan S; Sharma S; Souzeau E; Lower KM; Taranath DA; Black J; Pater J; Willoughby JG; Burdon KP; Craig JE
Eur J Hum Genet; 2017 Jun; 25(6):711-718. PubMed ID: 28272538
[TBL] [Abstract][Full Text] [Related]
13. Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.
Yu Y; Qiao Y; Ye Y; Li J; Yao K
Mol Genet Genomic Med; 2021 Mar; 9(3):e1617. PubMed ID: 33594837
[TBL] [Abstract][Full Text] [Related]
14. A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
Zhou G; Zhou N; Hu S; Zhao L; Zhang C; Qi Y
Mol Vis; 2010 Jun; 16():1019-24. PubMed ID: 20577656
[TBL] [Abstract][Full Text] [Related]
15. Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M; Agarwal T; Kaur P; Kumar M; Khokhar S; Dada R
Mol Vis; 2013; 19():2436-50. PubMed ID: 24319337
[TBL] [Abstract][Full Text] [Related]
16. Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.
Yang J; Zhou S; Guo M; Li Y; Gu J
BMC Ophthalmol; 2016 May; 16():67. PubMed ID: 27234311
[TBL] [Abstract][Full Text] [Related]
17. CRISPR/Cas9-Mediated Mutation of αA-Crystallin Gene Induces Congenital Cataracts in Rabbits.
Yuan L; Yao H; Xu Y; Chen M; Deng J; Song Y; Sui T; Wang Y; Huang Y; Li Z; Lai L
Invest Ophthalmol Vis Sci; 2017 May; 58(6):BIO34-BIO41. PubMed ID: 28475701
[TBL] [Abstract][Full Text] [Related]
18. A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.
Zhang X; Liang C; Liu M; Wang Z; Leng X; Xie S; Tan X; Yang Y; Liu Y
Int Ophthalmol; 2023 Jan; 43(1):43-50. PubMed ID: 35840783
[TBL] [Abstract][Full Text] [Related]
19. Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers.
Limi S; Zhao Y; Guo P; Lopez-Jones M; Zheng D; Singer RH; Skoultchi AI; Cvekl A
Invest Ophthalmol Vis Sci; 2019 Jan; 60(1):234-244. PubMed ID: 30646012
[TBL] [Abstract][Full Text] [Related]
20. A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes.
Si N; Song Z; Meng X; Li X; Xiao W; Zhang X
Gene; 2019 Apr; 692():113-118. PubMed ID: 30659945
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]