Associated Papers
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
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
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
PKC412 normalizes mutation-related keratin filament disruption and hepatic injury in mice by promoting keratin-myosin binding.
Kwan R et al.
Hepatology (baltimore, Md.), 2015
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
Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.
Liao H et al.
Plos One, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family.
Ehlers N et al.
Acta Ophthalmologica, 2008
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
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
Corden LD et al.
Experimental Eye Research, 2000
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
Coleman CM et al.
American Journal of Ophthalmology, 1999
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
Nishida K et al.
American Journal of Human Genetics, 1997
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
Irvine AD et al.
Nature Genetics, 1997
Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.
Vincent AL
Clinical & Experimental Ophthalmology, 0