Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract
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Maria K. Swift | B. Klein | Y. Teo | C. Klaver | P. Mitchell | J. Jonas | T. Wong | K. Small | E. Chew | A. C. Alves | Chaolong Wang | Jie-Jin Wang | Kristine E. Lee | A. Fletcher | G. Jun | Ching-Yu Cheng | X. Sim | T. Aung | C. Khor | Yuan Shi | Yih-Chung Tham | Y. X. Wang | L. Fritsche | Xinyi Su | C. Hammond | Jacqueline Chua | P. Bonnemaijer | E. Vithana | P. Hysi | K. Burdon | S. Iyengar | Miao-Ling Chee | Jiemin Liao | Preeti Gupta | J. Colijn | Wanting Zhao | R. Igo | S. Chee | A. Tan | Q. Fan | Periasamy Sundaresan | Xiaoran Chai | A. Chan | Zheng Li | R. Ravindran | Wenting Liu | A. Fong | E. Yonova-Doing | Q. Tan | Jaeyoon Chung | Mei-Chin Lee | Hengtong Li | M. Hilmy | Yang Shen | M. Tedja | J. Chung | Pieter W. M. Bonnemaijer | T. Wong | Ekaterina Yonova-Doing | T. Wong | Y. Tham | T. Wong
[1] A. Penman,et al. Prevalence of Age-Related Lens Opacities in a Population , 2020 .
[2] A. Auton,et al. Insights into the genetic basis of retinal detachment , 2019, Human molecular genetics.
[3] F. Woreta,et al. Preoperative evaluation for cataract surgery , 2019, Current opinion in ophthalmology.
[4] R. Klein,et al. Exome Array Analysis of Nuclear Lens Opacity , 2018, Ophthalmic epidemiology.
[5] Corey H Yu,et al. The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation , 2018, Scientific Reports.
[6] Nicola J. Rinaldi,et al. Genetic effects on gene expression across human tissues , 2017, Nature.
[7] C. Palmer,et al. A Genome-Wide Association Study Provides New Evidence That CACNA1C Gene is Associated With Diabetic Cataract , 2016, Investigative ophthalmology & visual science.
[8] Daniel Marbach,et al. Fast and Rigorous Computation of Gene and Pathway Scores from SNP-Based Summary Statistics , 2016, PLoS Comput. Biol..
[9] Latarsha J. Carithers,et al. The Genotype-Tissue Expression (GTEx) Project. , 2015, Biopreservation and biobanking.
[10] Y. Shui,et al. Quantitative proteomics analysis by iTRAQ in human nuclear cataracts of different ages and normal lens nuclei , 2015, Proteomics. Clinical applications.
[11] Dmitri D. Pervouchine,et al. The human transcriptome across tissues and individuals , 2015, Science.
[12] S. Rowan,et al. Altered ubiquitin causes perturbed calcium homeostasis, hyperactivation of calpain, dysregulated differentiation, and cataract , 2015, Proceedings of the National Academy of Sciences.
[13] Marylyn D. Ritchie,et al. Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci , 2014, Molecular vision.
[14] W. Boelens,et al. Cell biological roles of αB-crystallin. , 2014, Progress in biophysics and molecular biology.
[15] Y. Teo,et al. Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. , 2014, Human molecular genetics.
[16] M. Daly,et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies , 2014, Nature Genetics.
[17] J. M. Petrash,et al. Alpha-crystallin-mediated protection of lens cells against heat and oxidative stress-induced cell death. , 2014, Biochimica et biophysica acta.
[18] H. Deng,et al. Molecular genetics of congenital nuclear cataract. , 2014, European journal of medical genetics.
[19] Gretchen A. Stevens,et al. Causes of vision loss worldwide, 1990-2010: a systematic analysis. , 2013, The Lancet. Global health.
[20] Ellen T. Gelfand,et al. The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.
[21] Fuu-Jen Tsai,et al. Novel susceptibility genes associated with diabetic cataract in a Taiwanese population , 2013, Ophthalmic genetics.
[22] Jacqueline K. White,et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. , 2012, American journal of human genetics.
[23] Simon C. Potter,et al. Mapping cis- and trans-regulatory effects across multiple tissues in twins , 2012, Nature Genetics.
[24] L. Fan,et al. Down‐regulation and CpG island hypermethylation of CRYAA in age‐related nuclear cataract , 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
[25] J. Marchini,et al. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing , 2012, Nature Genetics.
[26] M. Stephens,et al. Genome-wide Efficient Mixed Model Analysis for Association Studies , 2012, Nature Genetics.
[27] Peter J Park,et al. iSyTE: integrated Systems Tool for Eye gene discovery. , 2012, Investigative ophthalmology & visual science.
[28] Jun Wang,et al. Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family , 2012, Molecular vision.
[29] D. Pascolini,et al. Global estimates of visual impairment: 2010 , 2011, British Journal of Ophthalmology.
[30] Manolis Kellis,et al. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants , 2011, Nucleic Acids Res..
[31] E. Agrón,et al. Risk factors associated with incident cataracts and cataract surgery in the Age-related Eye Disease Study (AREDS): AREDS report number 32. , 2011, Ophthalmology.
[32] L. Kessel. Can we meet the future demands for cataract surgery? , 2011, Acta ophthalmologica.
[33] P. Mitchell,et al. Metabolic syndrome components and age-related cataract: the Singapore Malay eye study. , 2011, Investigative ophthalmology & visual science.
[34] A. Santana,et al. The genetic and molecular basis of congenital cataract. , 2011, Arquivos brasileiros de oftalmologia.
[35] Johnny S. H. Kwan,et al. GATES: a rapid and powerful gene-based association test using extended Simes procedure. , 2011, American journal of human genetics.
[36] Usha Chakravarthy,et al. Prevalence of Cataract in an Older Population in India , 2011, Ophthalmology.
[37] P. Visscher,et al. GCTA: a tool for genome-wide complex trait analysis. , 2011, American journal of human genetics.
[38] G. Abecasis,et al. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes , 2010, Genetic epidemiology.
[39] Yun Li,et al. METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..
[40] R. Wallace,et al. Healthy diets and the subsequent prevalence of nuclear cataract in women. , 2010, Archives of ophthalmology.
[41] Nicholas Katsanis,et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. , 2010, American journal of human genetics.
[42] P. Mitchell,et al. Methodology of the Singapore Indian Chinese Cohort (SICC) Eye Study: Quantifying ethnic variations in the epidemiology of eye diseases in Asians , 2009, Ophthalmic epidemiology.
[43] U. Andley. Effects of α-Crystallin on Lens Cell Function and Cataract Pathology , 2009 .
[44] P. Donnelly,et al. A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies , 2009, PLoS genetics.
[45] Liang Xu,et al. The Beijing Eye Study , 2009, Acta ophthalmologica.
[46] Praveen Vashist,et al. Current status of cataract blindness and Vision 2020: The right to sight initiative in India , 2008, Indian journal of ophthalmology.
[47] Xiaoling Liang,et al. Novel SOX2 mutation associated with ocular coloboma in a Chinese family. , 2008, Archives of ophthalmology.
[48] Ronald Klein,et al. Incidence of age-related cataract over a 15-year interval the Beaver Dam Eye Study. , 2008, Ophthalmology.
[49] Monique M. B. Breteler,et al. The Rotterdam Study: 2016 objectives and design update , 2015, European Journal of Epidemiology.
[50] A. Hofman,et al. The Rotterdam Study: objectives and design update , 2007, European Journal of Epidemiology.
[51] D. Kiel,et al. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study , 2007, BMC Medical Genetics.
[52] R. Maas,et al. Sox2 and Pou2f1 interact to control lens and olfactory placode development. , 2007, Developmental biology.
[53] T. Wong,et al. Rationale and Methodology for a Population-Based Study of Eye Diseases in Malay People: The Singapore Malay Eye Study (SiMES) , 2007, Ophthalmic epidemiology.
[54] Tim D Spector,et al. The UK Adult Twin Registry (TwinsUK) , 2006, Twin Research and Human Genetics.
[55] B. Lorenz,et al. SOX2 anophthalmia syndrome , 2005, American journal of medical genetics. Part A.
[56] H. Kondoh,et al. Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. , 2004, The International journal of developmental biology.
[57] Jun Wang,et al. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. , 2004, Molecular vision.
[58] C. Hayward,et al. Mutations in SOX2 cause anophthalmia , 2003, Nature Genetics.
[59] K. Yasuda,et al. Cooperative action between L-Maf and Sox2 on δ-crystallin gene expression during chick lens development , 2003, Mechanisms of Development.
[60] M. Boehnke,et al. Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. , 2003, American journal of ophthalmology.
[61] R. Cumming,et al. Hormone replacement therapy, reproductive factors, and the incidence of cataract and cataract surgery: the Blue Mountains Eye Study. , 2002, American journal of epidemiology.
[62] A. Foster,et al. Should antiproliferatives be used in filtering surgery of normal tension glaucoma? , 2001, The British journal of ophthalmology.
[63] T. Spector,et al. Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins. , 2000, The New England journal of medicine.
[64] P. Wilson,et al. A longitudinal study of body mass index and lens opacities. The Framingham Studies. , 1998, Ophthalmology.
[65] P. Kramer,et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. , 1998, Human molecular genetics.
[66] R. Cumming,et al. Prevalence of cataract in Australia: the Blue Mountains eye study. , 1997, Ophthalmology.
[67] V. Uebele,et al. A Novel K+ Channel β-Subunit (hKvβ1.3) Is Produced via Alternative mRNA Splicing (*) , 1995, The Journal of Biological Chemistry.
[68] K L Linton,et al. Prevalence of age-related lens opacities in a population. The Beaver Dam Eye Study. , 1992, Ophthalmology.
[69] A. Cvekl,et al. Lens Development and Crystallin Gene Expression. , 2015, Progress in molecular biology and translational science.
[70] U. Andley. Effects of alpha-crystallin on lens cell function and cataract pathology. , 2009, Current molecular medicine.
[71] H. Kodama,et al. Copper metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment , 2009 .