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
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1
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
26289666 (PubMed )
Supplement: gt201582x1.xls › Sheet2
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
Chen JL et al.
Molecular Vision, 2015
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
Szaflik JP et al.
Molecular Vision, 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
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
Nichini O et al.
Ophthalmic Genetics, 2005
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
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
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