Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
A Novel Pathogenic Variant in the KRT3 Gene in a Family with Meesmann Corneal Dystrophy.
De Faria A et al.
Journal of Clinical Medicine, 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
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
Allen EH et al.
Human Molecular Genetics, 2016
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
Chen JL et al.
Molecular Vision, 2015
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.
Kubo A et al.
The Journal of Dermatology, 2013
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
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
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