Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.Q130P
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KRT12

NM_000223.4:p.Q130P

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

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

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

Chen JL et al.

Molecular Vision, 2015

KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.

Ogasawara M et al.

American Journal of Ophthalmology, 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

Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.

Clausen I et al.

Molecular Vision, 2010

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Sullivan LS et al.

Molecular Vision, 2007

Genetics of corneal dystrophies: the evolving landscape.

Pieramici SF et al.

Current Opinion in Ophthalmology, 2006

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Chen YT et al.

Cornea, 2005

A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

Yoon MK et al.

The British Journal of Ophthalmology, 2004

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

Corden LD et al.

The British Journal of Ophthalmology, 2000

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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."