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KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia.
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KC can co-exist with GCD. The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD.
we show that the two PAX6 (显示 PAX6 抗体) isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 (显示 PAX6 抗体) isoform-a induced KRT3 expression by targeting its upstream region. KLF4 (显示 KLF4 抗体) enhanced this induction. A combination of PAX6 (显示 PAX6 抗体) isoform-b, KLF4 (显示 KLF4 抗体), and OCT4 (显示 POU5F1 抗体) induced KRT12 expression
Combined with an effective delivery vehicle this siRNA approach represents a viable treatment option for prevention of the MECD pathology observed in K12-Leu132Pro heterozygous individuals.
We identified a novel missense mutation of the KRT12 gene in Meesmann corneal dystrophy. The in vivo confocal microscopy examinations revealed previously unreported depth-dependent ultrastructural changes in the living cornea.
Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy.
The Leu132Pro missense mutation is within the helix-initiation motif of the keratin and is predicted to result in a significant structural change of the K12 protein.
The lead siRNA, with an IC(50) of thirty picomolar, showed no keratin off-target effects or activation of TLR3 (显示 TLR3 抗体) in the concentration ranges tested.
Novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann's corneal dystrophy in a German family.
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
A novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families.
data revealed that the early corneal epithelial progenitor cells expressing keratin-12 originated from limbus, and gave rise to the transit amplifying cells that migrated centripetally to differentiate into corneal epithelial cells
clonal limbal stem cells randomly activate Krt12 alleles in the process of terminal differentiation in cornea
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy.
, type I keratin
, keratin 12 (Meesmann corneal dystrophy)
, keratin, type I cytoskeletal 12
, Keratin, type I cytoskeletal 12 (Cytokeratin 12)
, keratin complex 1, acidic, gene 12
, keratin K12
, type I keratin KA12
, keratin, type I cytoskeletal 47 kDa
, B2 keratin