KRT12 Antibody

1. 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. PMID: 28567551
2. 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. PMID: 24801514
3. 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. PMID: 24099278
4. 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. PMID: 23222558
5. The lead siRNA, with an IC(50) of thirty picomolar, showed no keratin off-target effects or activation of TLR3 in the concentration ranges tested. PMID: 23233254
6. Novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann's corneal dystrophy in a German family. PMID: 20577595
7. Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. PMID: 12543196
8. A novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. PMID: 16227835
9. Mutation in the KRT12 gene is associated with Meesmann corneal dystrophy PMID: 16352477
10. Mutation associated with symptomatic phenotype of Meesmann's corneal dystrophy. Results in substitution of proline for arginine in helix termination motif that may disrupt normal helix, leading to dramatic structural change of keratin 12 protein. PMID: 17653038
11. This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic. PMID: 18245975
12. The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused Meesmann corneal dystrophy (MECD). PMID: 18661274

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HGNC: 6414

OMIM: 122100

KEGG: hsa:3859

STRING: 9606.ENSP00000251643

UniGene: Hs.66739