标题
Update on the genetics of keratoconus
作者
关键词
Keratoconus, Genetics, GWAS, Variant, CXL, Polygenic risk score
出版物
EXPERIMENTAL EYE RESEARCH
Volume 202, Issue -, Pages 108398
出版商
Elsevier BV
发表日期
2020-12-13
DOI
10.1016/j.exer.2020.108398
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease
- (2020) Jonathan D. Mosley et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression
- (2020) Jamie E. Craig et al. NATURE GENETICS
- An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity
- (2020) Ayub Qassim et al. OPHTHALMOLOGY
- Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients
- (2020) Xiayan Xu et al. Scientific Reports
- Ten years experience of corneal collagen cross-linking
- (2020) Ahmed Elmassry et al. EUROPEAN JOURNAL OF OPHTHALMOLOGY
- Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases
- (2020) Mark J Simcoe et al. HUMAN MOLECULAR GENETICS
- The prevalence of corneal abnormalities in first‐degree relatives of patients with keratoconus: a prospective case‐control study
- (2020) Einat Shneor et al. OPHTHALMIC AND PHYSIOLOGICAL OPTICS
- RNA sequencing of corneas from two keratoconus patient groups identifies potential biomarkers and decreased NRF2-antioxidant responses
- (2020) Vishal Shinde et al. Scientific Reports
- Replication of the Association Between Keratoconus and Polymorphisms in PNPLA2 and MAML2 in a Han Chinese Population
- (2020) Jing Zhang et al. Frontiers in Genetics
- A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness
- (2020) Hélène Choquet et al. Communications Biology
- Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson
- (2020) Yoshikatsu Hosoda et al. Communications Biology
- Topographic screening reveals keratoconus to be extremely common in Down syndrome
- (2020) Joyce J. Mathan et al. CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
- Multi-omics study for interpretation of genome-wide association study
- (2020) Masato Akiyama JOURNAL OF HUMAN GENETICS
- Further evaluation of differential expression of keratoconus candidate genes in human corneas
- (2020) Justyna A. Karolak et al. PeerJ
- Association between Polygenic Risk Score and One-Year Outcomes Following As-Needed Aflibercept Therapy for Exudative Age-Related Macular Degeneration
- (2020) Taiyo Shijo et al. Pharmaceuticals
- Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations
- (2019) Wenlin Zhang et al. CORNEA
- Polygenic Risk Score Is Associated With Intraocular Pressure and Improves Glaucoma Prediction in the UK Biobank Cohort
- (2019) X. Raymond Gao et al. Translational Vision Science & Technology
- Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study
- (2019) Anthony P. Khawaja et al. JAMA Ophthalmology
- The Prevalence and Risk Factors for Keratoconus
- (2019) Hassan Hashemi et al. CORNEA
- Classification of Type 2 Diabetes Genetic Variants and a Novel Genetic Risk Score Association with Insulin Clearance
- (2019) Mark O Goodarzi et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The correlation between keratoconus and eye rubbing: a review
- (2019) Hatim Najmi International Journal of Ophthalmology
- Transcriptional profiling of corneal stromal cells derived from patients with keratoconus
- (2019) Rabab Sharif et al. Scientific Reports
- A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family
- (2019) Qinghong Lin et al. Journal of Ophthalmology
- Association Between Polygenic Risk Score and Risk of Myopia
- (2019) Neema Ghorbani Mojarrad et al. JAMA Ophthalmology
- PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus
- (2019) Mariam Lofty Khaled et al. Scientific Reports
- Association of Genetic Variation With Keratoconus
- (2019) Bennet J. McComish et al. JAMA Ophthalmology
- Prevalence of keratoconus in paediatric patients in Riyadh, Saudi Arabia
- (2018) Emilio Almeida Torres Netto et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Analysis of multiple genetic loci revealsMPDZ-NF1Brs1324183 as a putative genetic marker for keratoconus
- (2018) Yu Meng Wang et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Corneal Cross-Linking for Pediatric Keratcoconus Review
- (2018) Claudia Perez-Straziota et al. CORNEA
- Outcomes of Corneal Cross-Linking Correlate With Cone-Specific Lysyl Oxidase Expression in Patients With Keratoconus
- (2018) Rohit Shetty et al. CORNEA
- Effects of collagen cross-linking on the keratoconus metabolic network
- (2018) Rabab Sharif et al. EYE
- Histological and microRNA Signatures of Corneal Epithelium in Keratoconus
- (2018) Yu Meng Wang et al. JOURNAL OF REFRACTIVE SURGERY
- Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
- (2018) Sionne E. M. Lucas et al. PLoS One
- Collagen cross-linking impact on keratoconus extracellular matrix
- (2018) Rabab Sharif et al. PLoS One
- Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
- (2018) Adriana I. Iglesias et al. Nature Communications
- A nationwide population-based study of social demographic factors, associated diseases and mortality of keratoconus patients in Denmark from 1977 to 2015
- (2018) Sashia Bak-Nielsen et al. ACTA OPHTHALMOLOGICA
- Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
- (2018) Anubha Mahajan et al. NATURE GENETICS
- Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo and Wnt pathways in keratoconus corneas
- (2017) Michal Kabza et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Replication of SNP associations with keratoconus in a Czech cohort
- (2017) Petra Liskova et al. PLoS One
- A review of keratoconus: Diagnosis, pathophysiology, and genetics
- (2017) Veronica Mas Tur et al. SURVEY OF OPHTHALMOLOGY
- Genetic associations for keratoconus: a systematic review and meta-analysis
- (2017) Shi Song Rong et al. Scientific Reports
- Nonsurgical Procedures for Keratoconus Management
- (2017) L. Rico-Del-Viejo et al. Journal of Ophthalmology
- Transcriptome-wide Investigation of mRNA/circRNA in miR-184 and Its r.57c > u Mutant Type Treatment of Human Lens Epithelial Cells
- (2017) Yueqiu Luo et al. Molecular Therapy-Nucleic Acids
- Correlation of Clinical and Biomechanical Outcomes of Accelerated Crosslinking (9 mW/cm2 in 10 minutes) in Keratoconus with Molecular Expression of Ectasia-Related Genes
- (2016) Natasha Pahuja et al. CURRENT EYE RESEARCH
- Corneal Collagen Crosslinking for Corneal Ectasias: A Review
- (2016) David P.S. O’Brart EUROPEAN JOURNAL OF OPHTHALMOLOGY
- Non-coding RNAs in Development and Disease: Background, Mechanisms, and Therapeutic Approaches
- (2016) Julia Beermann et al. PHYSIOLOGICAL REVIEWS
- The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review
- (2016) Jessica Cooke Bailey et al. Journal of Clinical Medicine
- lncRNA-RNA Interactions across the Human Transcriptome
- (2016) Michał Wojciech Szcześniak et al. PLoS One
- Evaluation of Possible Relationship Between COL4A4 Gene Polymorphisms and Risk of Keratoconus
- (2015) Ramin Saravani et al. CORNEA
- Global Consensus on Keratoconus and Ectatic Diseases
- (2015) José A. P. Gomes et al. CORNEA
- Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent
- (2015) Lubica Dudakova et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness
- (2015) Gabriel Cuellar-Partida et al. HUMAN MOLECULAR GENETICS
- Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus
- (2015) A. E. Davidson et al. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
- Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population
- (2015) Xiao-Dan Hao et al. OPHTHALMIC GENETICS
- Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci
- (2015) Dorota M. Nowak et al. PLoS One
- Association of Common Variants in LOX with Keratoconus: A Meta-Analysis
- (2015) Jing Zhang et al. PLoS One
- Association ofLysyl oxidase (LOX)Polymorphisms with the Risk of Keratoconus in an Iranian Population
- (2014) Farzaneh Hasanian-Langroudi et al. OPHTHALMIC GENETICS
- Association of the Hepatocyte Growth Factor Gene with Keratoconus in an Australian Population
- (2014) Srujana Sahebjada et al. PLoS One
- Bilateral keratoconus in tuberous sclerosis: is there a molecular link?
- (2013) Douglas A.M. Lyall et al. CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
- An Association Between the Calpastatin (CAST) Gene and Keratoconus
- (2013) Xiaohui Li et al. CORNEA
- Keratoconus and corneal collagen cross-linking
- (2013) Rohit Shetty INDIAN JOURNAL OF OPHTHALMOLOGY
- Contact lens in keratoconus
- (2013) VarshaM Rathi et al. INDIAN JOURNAL OF OPHTHALMOLOGY
- The paradigm change in keratoconus therapy
- (2013) Theo Seiler INDIAN JOURNAL OF OPHTHALMOLOGY
- Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
- (2013) Yi Lu et al. NATURE GENETICS
- Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population
- (2013) Yani Wang et al. OPHTHALMIC GENETICS
- C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain
- (2013) Yelena Bykhovskaya et al. OPHTHALMIC GENETICS
- VSX1 Gene and Keratoconus
- (2012) Jin Wook Jeoung et al. CORNEA
- The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population
- (2012) Tao Guan et al. GENE
- Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract
- (2011) Anne E. Hughes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
- (2011) Marta Czugala et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries
- (2011) Xiaohui Li et al. HUMAN MOLECULAR GENETICS
- Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
- (2011) Georg B. Ehret et al. NATURE
- Collagen-related genes influence the glaucoma risk factor, central corneal thickness
- (2010) Eranga N. Vithana et al. HUMAN MOLECULAR GENETICS
- New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8
- (2010) Veronique Vitart et al. HUMAN MOLECULAR GENETICS
- Prevalence and Associations of Keratoconus in Rural Maharashtra in Central India: The Central India Eye and Medical Study
- (2009) Jost B. Jonas et al. AMERICAN JOURNAL OF OPHTHALMOLOGY
- The genetics of central corneal thickness
- (2009) D. P. Dimasi et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Three VSX1 Gene Mutations, L159M, R166W, and H244R, Are Not Associated With Keratoconus
- (2009) Yongming G Tang et al. CORNEA
- Permanent Corneal Haze After Riboflavin-UVA-Induced Cross-Linking in Keratoconus
- (2009) Frederik Raiskup et al. JOURNAL OF REFRACTIVE SURGERY
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