Associated Papers
The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.
Cappellani F et al.
Genes, 2026
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetics of Keratoconus: A Comprehensive Review.
Barcelo-Canton RH et al.
Genes, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.
Deva JP et al.
Indian Journal of Ophthalmology, 2023
Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China.
Zhang J et al.
Frontiers in Genetics, 2023
A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.
Chakravarty M et al.
European Journal of Ophthalmology, 2022
Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus.
Lopes AG et al.
Ophthalmic Genetics, 2022
Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis.
Veerappa AM
Ophthalmic Genetics, 2021
[Search for genetic markers for precise diagnostics of keratoconus].
Skorodumova LO et al.
Biomeditsinskaia Khimiia, 2019
Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.
Litke AM et al.
Investigative Ophthalmology & Visual Science, 2018
Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.
Loukovitis E et al.
Ophthalmology and Therapy, 2018
Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.
Bardak H et al.
Genetics and Molecular Research : Gmr, 2016
Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.
Karolak JA et al.
Ophthalmic Genetics, 2016
Lack of association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and keratoconus in a Polish subpopulation.
Synowiec E et al.
Archives of Medical Science : Ams, 2015
Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.
Shetty R et al.
Bmc Medical Genetics, 2015
Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.
Moschos MM et al.
Ophthalmic Genetics, 2015
The genetic and environmental factors for keratoconus.
Gordon-Shaag A et al.
Biomed Research International, 2015
Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.
Nowak DM et al.
Plos One, 2015
Genetics of keratoconus: where do we stand?
Abu-Amero KK et al.
Journal of Ophthalmology, 2014
Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.
Wang Y et al.
Ophthalmic Genetics, 2013
Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus.
Jeyabalan N et al.
Indian Journal of Ophthalmology, 2013
Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.
Verma A et al.
Bmc Research Notes, 2013
Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.
Dehkordi FA et al.
Acta Cytologica, 2013
VSX1 gene and keratoconus: genetic analysis in Korean patients.
Jeoung JW et al.
Cornea, 2012
The Genetics of Keratoconus: A Review.
Wheeler J et al.
Reproductive System & Sexual Disorders : Current Research, 2012
Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
Abu-Amero KK et al.
Molecular Vision, 2011
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
De Bonis P et al.
Molecular Vision, 2011
Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.
Saee-Rad S et al.
Molecular Vision, 2011
Mutational screening of VSX1 in keratoconus patients from the European population.
Dash DP et al.
Eye (london, England), 2010
Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.
Stabuc-Silih M et al.
Cornea, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?
Eran P et al.
Ophthalmic Genetics, 2008
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
Tang YG et al.
Cornea, 2008
VSX1 gene variants are associated with keratoconus in unrelated Korean patients.
Mok JW et al.
Journal of Human Genetics, 2008
Molecular analysis of the VSX1 gene in familial keratoconus.
Liskova P et al.
Molecular Vision, 2007
No VSX1 gene mutations associated with keratoconus.
Aldave AJ et al.
Investigative Ophthalmology & Visual Science, 2006
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Mintz-Hittner HA et al.
Ophthalmology, 2004
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Héon E et al.
Human Molecular Genetics, 2002
VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.
Nejabat M et al.
Journal of Ophthalmic & Vision Research, 0
Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.
da Silva DC et al.
Journal of Ophthalmic & Vision Research, 0