244 related articles for article (PubMed ID: 32143568)
1. In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.
Zhang M; Huang C; Wang Z; Lv H; Li X
BMC Mol Cell Biol; 2020 Mar; 21(1):12. PubMed ID: 32143568
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family.
Zhang L; Qu X; Su S; Guan L; Liu P
Mol Vis; 2012; 18():2114-8. PubMed ID: 22876138
[TBL] [Abstract][Full Text] [Related]
4. Identification of
Li H; Jiang H; Rong R; Jiang J; Ji D; Song W; Xia X
DNA Cell Biol; 2020 Oct; 39(10):1760-1766. PubMed ID: 32808810
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
Jiang H; Jin Y; Bu L; Zhang W; Liu J; Cui B; Kong X; Hu L
Mol Vis; 2003 Oct; 9():579-83. PubMed ID: 14627959
[TBL] [Abstract][Full Text] [Related]
6. Novel Homozygous Missense Variant in
Hassan AY; Yousaf S; Levin MR; Saeedi OJ; Riazuddin S; Alexander JL; Ahmed ZM
Int J Mol Sci; 2021 Dec; 23(1):. PubMed ID: 35008666
[TBL] [Abstract][Full Text] [Related]
7. Predicting the functional and structural consequences of nsSNPs in human methionine synthase gene using computational tools.
Desai M; Chauhan JB
Syst Biol Reprod Med; 2019 Aug; 65(4):288-300. PubMed ID: 30676783
[TBL] [Abstract][Full Text] [Related]
8. Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ; Parves MR; Mahmud S; Tithi FA; Reza MA
Comput Biol Chem; 2019 Jun; 80():31-45. PubMed ID: 30884445
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches.
Zhao J; Zhang S; Jiang Y; Liu Y; Zhu Q
Sci Rep; 2023 Apr; 13(1):6774. PubMed ID: 37185285
[TBL] [Abstract][Full Text] [Related]
10. Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract.
Wang L; Chen Y; Chen X; Sun X
Indian J Ophthalmol; 2016 Jul; 64(7):508-12. PubMed ID: 27609163
[TBL] [Abstract][Full Text] [Related]
11. A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
Yao K; Wang W; Zhu Y; Jin C; Shentu X; Jiang J; Zhang Y; Ni S
Hum Mutat; 2011 Dec; 32(12):1367-70. PubMed ID: 21681855
[TBL] [Abstract][Full Text] [Related]
12. Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
Zhou Z; Wang B; Hu S; Zhang C; Ma X; Qi Y
Mol Vis; 2011 Feb; 17():621-6. PubMed ID: 21386927
[TBL] [Abstract][Full Text] [Related]
13. Identification of a novel mutation of the gene for gap junction protein α3 (GJA3) in a Chinese family with congenital cataract.
Hu Y; Gao L; Feng Y; Yang T; Huang S; Shao Z; Yuan H
Mol Biol Rep; 2014 Jul; 41(7):4753-8. PubMed ID: 24728566
[TBL] [Abstract][Full Text] [Related]
14. Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D; Ionides A; Kibar Z; Rouleau G; Berry V; Moore A; Shiels A; Bhattacharya S
Am J Hum Genet; 1999 May; 64(5):1357-64. PubMed ID: 10205266
[TBL] [Abstract][Full Text] [Related]
15. Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
Li B; Liu Y; Liu Y; Guo H; Hu Z; Xia K; Jin X
DNA Cell Biol; 2016 Mar; 35(3):135-9. PubMed ID: 26683566
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel GJA3 mutation in congenital nuclear cataract.
Yuan L; Guo Y; Yi J; Xiao J; Yuan J; Xiong W; Xu H; Yang Z; Zhang J; Deng H
Optom Vis Sci; 2015 Mar; 92(3):337-42. PubMed ID: 25635993
[TBL] [Abstract][Full Text] [Related]
17. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
Al Mehdi K; Fouad B; Zouhair E; Boutaina B; Yassine N; Chaimaa AEC; Najat S; Hassan R; Rachida R; Abdelhamid B; Halima N
Biomed Res Int; 2019; 2019():4872101. PubMed ID: 31976320
[TBL] [Abstract][Full Text] [Related]
18. A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.
Guleria K; Vanita V; Singh D; Singh JR
Mol Vis; 2007 Jun; 13():797-803. PubMed ID: 17615540
[TBL] [Abstract][Full Text] [Related]
19. Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.
Badgujar NV; Tarapara BV; Shah FD
PLoS One; 2019; 14(8):e0220711. PubMed ID: 31398194
[TBL] [Abstract][Full Text] [Related]
20. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.
Bennett TM; Mackay DS; Knopf HL; Shiels A
Mol Vis; 2004 Jun; 10():376-82. PubMed ID: 15208569
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
