Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.Q455K
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COL8A2

NM_005202.4:p.Q455K

Associated Papers

Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.

Fechner J et al.

Human Genetics, 2025

40353861 (PubMed )
Supplement: 439_2025_2749_MOESM2_ESM.xlsx › Tabelle1

From Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.

Tsedilina TR et al.

International Journal of Molecular Sciences, 2025

Heterozygous Tcf4 Deficiency Mitigates Fuchs Endothelial Corneal Dystrophy Progression in a Mouse Model.

Ito S et al.

Investigative Ophthalmology & Visual Science, 2025

Iron-Sulfur Clusters and Iron Responsive Element Binding Proteins Mediate Iron Accumulation in Corneal Endothelial Cells in Fuchs Dystrophy.

Hartness EM et al.

Investigative Ophthalmology & Visual Science, 2025

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Liskova P et al.

Clinical & Experimental Ophthalmology, 2025

Preclinical Models for Studying Fuchs Endothelial Corneal Dystrophy.

Sun F et al.

Cells, 2025

MiR-23a-3p targets PTEN as a novel anti-ferroptosis regulator in Fuchs endothelial corneal dystrophy.

Chi M et al.

Experimental Eye Research, 2025

Type VIII collagen: advances in matrix biology and translational promise.

Shi H et al.

Frontiers in Bioengineering and Biotechnology, 2025

Exploring single-cell RNA sequencing as a decision-making tool in the clinical management of Fuchs' endothelial corneal dystrophy.

Yang GN et al.

Progress in Retinal and Eye Research, 2024

Characterization of a Novel Mouse Model for Fuchs Endothelial Corneal Dystrophy.

Murugan S et al.

Investigative Ophthalmology & Visual Science, 2024

Squishy matters - Corneal mechanobiology in health and disease.

Thomasy SM et al.

Progress in Retinal and Eye Research, 2024

Fuchs endothelial corneal dystrophy: an updated review.

Altamirano F et al.

International Ophthalmology, 2024

Novel Mechanisms Guide Innovative Molecular-Based Therapeutic Strategies for Fuchs Endothelial Corneal Dystrophy.

Chan MF et al.

Cornea, 2023

Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs' Endothelial Corneal Dystrophy.

Leonard BC et al.

Investigative Ophthalmology & Visual Science, 2023

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

AUTOPHAGY IN THE EYE: FROM PHYSIOLOGY TO PATHOPHYSOLOGY.

Liton PB et al.

Autophagy Reports, 2023

Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.

Tsedilina TR et al.

Frontiers in Medicine, 2023

Update on the genetics of corneal endothelial dystrophies.

Kannabiran C et al.

Indian Journal of Ophthalmology, 2022

Endothelial corneal dystrophy with annular stromal clefts.

Koay SY et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2021

Mitochondrial Dysfunction and Mitophagy in Fuchs Endothelial Corneal Dystrophy.

Kumar V et al.

Cells, 2021

Start codon disruption with CRISPR/Cas9 prevents murine Fuchs' endothelial corneal dystrophy.

Uehara H et al.

Elife, 2021

Diseases of the corneal endothelium.

Jeang LJ et al.

Experimental Eye Research, 2021

Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Ong Tone S et al.

Progress in Retinal and Eye Research, 2021

Molecular Mechanisms of Fuchs and Congenital Hereditary Endothelial Corneal Dystrophies.

Malhotra D et al.

Reviews of Physiology, Biochemistry and Pharmacology, 2020

Biomechanical changes to Descemet's membrane precede endothelial cell loss in an early-onset murine model of Fuchs endothelial corneal dystrophy.

Leonard BC et al.

Experimental Eye Research, 2019

The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Zhang J et al.

Molecular Diagnosis & Therapy, 2019

Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology.

Shull OR et al.

Cornea, 2018

Perspective of Future Potent Therapies for Fuchs Endothelial Corneal Dystrophy.

Okumura N et al.

The Open Ophthalmology Journal, 2018

Mutational spectrum of Korean patients with corneal dystrophy.

Chae H et al.

Clinical Genetics, 2016

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.

Tang H et al.

International Journal of Molecular Medicine, 2016

Fuchs endothelial corneal dystrophy: current perspectives.

Vedana G et al.

Clinical Ophthalmology (auckland, N.z.), 2016

The pathophysiology of Fuchs' endothelial dystrophy--a review of molecular and cellular insights.

Zhang J et al.

Experimental Eye Research, 2015

Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.

Kuot A et al.

Clinical & Experimental Ophthalmology, 2014

Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.

Mootha VV et al.

Investigative Ophthalmology & Visual Science, 2014

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ et al.

Clinical Genetics, 2013

Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.

Matthaei M et al.

Investigative Ophthalmology & Visual Science, 2013

Endothelial Cdkn1a (p21) overexpression and accelerated senescence in a mouse model of Fuchs endothelial corneal dystrophy.

Matthaei M et al.

Investigative Ophthalmology & Visual Science, 2012

The genetics of Fuchs' corneal dystrophy.

Iliff BW et al.

Expert Review of Ophthalmology, 2012

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Jun AS et al.

Human Molecular Genetics, 2012

Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Igo RP et al.

Plos One, 2012

A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.

Kelliher C et al.

Experimental Eye Research, 2011

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

Li YJ et al.

Plos One, 2011

Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

Desronvil T et al.

Molecular Vision, 2010

Fuchs endothelial corneal dystrophy.

Elhalis H et al.

The Ocular Surface, 2010

Fuchs' corneal dystrophy.

Eghrari AO et al.

Expert Review of Ophthalmology, 2010

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Hemadevi B et al.

Bmc Ophthalmology, 2010

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

Mok JW et al.

Eye (london, England), 2009

Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Afshari NA et al.

Investigative Ophthalmology & Visual Science, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."