Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.R547C
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LOXHD1

NM_001384474.1:p.R547C

Associated Papers

Transcriptome analyses of human corneal endothelial cell lines derived from patients with Fuchs endothelial corneal dystrophy.

Ashraf S et al.

Scientific Reports, 2025

41298634 (PubMed )
Supplement: 41598_2025_26025_MOESM4_ESM.pdf

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

Tsedilina TR et al.

International Journal of Molecular Sciences, 2025

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

Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.

Kim BJ et al.

Journal of Medical Genetics, 2022

Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Liu X et al.

Eye and Vision (london, England), 2021

Diseases of the corneal endothelium.

Jeang LJ et al.

Experimental Eye Research, 2021

The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.

Zhang J et al.

Molecular Diagnosis & Therapy, 2019

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

Nanda GG et al.

Molecular Vision, 2019

CTG18.1 Expansion is the Best Classifier of Late-Onset Fuchs' Corneal Dystrophy Among 10 Biomarkers in a Cohort From the European Part of Russia.

Skorodumova LO et al.

Investigative Ophthalmology & Visual Science, 2018

The genetics of Fuchs' corneal dystrophy.

Iliff BW et al.

Expert Review of Ophthalmology, 2012

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.

Riazuddin SA et al.

American Journal of Human Genetics, 2012

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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."