Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.L132P
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KRT12

NM_000223.4:p.L132P

Associated Papers

Topical mutant allele-specific siRNA delivery for treatment of Meesmann epithelial corneal dystrophy and elucidation of disease biomarkers.

McLain A et al.

Journal of Controlled Release : Official Journal of the Controlled Release Society, 2025

Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.

Roshandel D et al.

The Ocular Surface, 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

Update on the Corneal Dystrophies-Genetic Testing and Therapy.

Weiss JS et al.

Cornea, 2022

Development of a Corneal Bioluminescence Mouse for Real-Time In Vivo Evaluation of Gene Therapies.

Fu DJ et al.

Translational Vision Science & Technology, 2020

Allele-specific genome targeting in the development of precision medicine.

Wu J et al.

Theranostics, 2020

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

Allen EH et al.

Human Molecular Genetics, 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

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Chen JL et al.

Molecular Vision, 2015

siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.

Courtney DG et al.

Investigative Ophthalmology & Visual Science, 2014

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Courtney DG et al.

Investigative Ophthalmology & Visual Science, 2014

Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.

Cao W et al.

The Journal of International Medical Research, 2013

Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

Hassan H et al.

Eye (london, England), 2013

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.

Allen EHA et al.

Investigative Ophthalmology & Visual Science, 2013

Keratin disorders: from gene to therapy.

McLean WH et al.

Human Molecular Genetics, 2011

Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.

Liao H et al.

Plos One, 2011

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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."