Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.L450W
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COL8A2

NM_005202.4:p.L450W

Associated Papers

TAZ ( Wwtr1 ) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs' endothelial corneal dystrophy.

Park S et al.

Biorxiv : the Preprint Server for Biology, 2026

Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene.

Oyama Y et al.

Investigative Ophthalmology & Visual Science, 2025

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

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

Shi H et al.

Frontiers in Bioengineering and Biotechnology, 2025

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

RNA-Seq-based transcriptome analysis of corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy.

Nakagawa T et al.

Scientific Reports, 2023

37244951 (PubMed )
Supplement: 41598_2023_35468_MOESM2_ESM.pdf

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

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

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

TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.

Viberg A et al.

Acta Ophthalmologica, 2022

Descemet membrane endothelial keratoplasty in eyes with COL8A2-associated corneal dystrophy.

Dzhaber D et al.

American Journal of Ophthalmology Case Reports, 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

REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.

Nanda GG et al.

Molecular Vision, 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

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

Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2.

Eghrari AO et al.

Cornea, 2016

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Courtney DG et al.

Gene Therapy, 2016

26289666 (PubMed )
Supplement: gt201582x1.xls › Sheet2

Fuchs endothelial corneal dystrophy: current perspectives.

Vedana G et al.

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

IC3D classification of corneal dystrophies--edition 2.

Weiss JS et al.

Cornea, 2015

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

Zhang J et al.

Experimental Eye Research, 2015

Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.

Gupta R et al.

Molecular Vision, 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

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

Aldave AJ et al.

Clinical Genetics, 2013

The genetics of Fuchs' corneal dystrophy.

Iliff BW et al.

Expert Review of Ophthalmology, 2012

Molecular bases of corneal endothelial dystrophies.

Schmedt T et al.

Experimental Eye Research, 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

Age-severity relationships in families linked to FCD2 with retroillumination photography.

McGlumphy EJ et al.

Investigative Ophthalmology & Visual Science, 2010

Evidence of oxidative stress in the pathogenesis of fuchs endothelial corneal dystrophy.

Jurkunas UV et al.

The American Journal of Pathology, 2010

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

Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus.

Meadows DN et al.

Investigative Ophthalmology & Visual Science, 2009

Genetics of corneal endothelial dystrophies.

Kannabiran C

Journal of Genetics, 2009

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

Corneal dystrophies.

Klintworth GK

Orphanet Journal of Rare Diseases, 2009

Essential role for the alpha 1 chain of type VIII collagen in zebrafish notochord formation.

Gansner JM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2008

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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."