| We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystrophy patients. This mutation has been independently reported in an American Meesmann corneal dystrophy patient, confirming its pathogenicity. | In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.
Nishino T, Kobayashi A, Mori N, Masaki T, Yokogawa H, Fujiki K, Yanagawa A, Murakami A, Sugiyama K. | 02/2/2019 |
| RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations. | Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.
Latta L, Viestenz A, Stachon T, Colanesi S, Szentmáry N, Seitz B, Käsmann-Kellner B. | 10/6/2018 |
| 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. | Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.
Du X, Chen P, Sun D. | 04/28/2018 |
| we show that the two PAX6 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 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression | PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes.
Sasamoto Y, Hayashi R, Park SJ, Saito-Adachi M, Suzuki Y, Kawasaki S, Quantock AJ, Nakai K, Tsujikawa M, Nishida K., Free PMC Article | 12/24/2016 |
| 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. | siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.
Courtney DG, Atkinson SD, Allen EH, Moore JE, Walsh CP, Pedrioli DM, MacEwen CJ, Pellegrini G, Maurizi E, Serafini C, Fantacci M, Liao H, Irvine AD, McLean WH, Moore CB. | 07/26/2014 |
| 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. | KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
Ogasawara M, Matsumoto Y, Hayashi T, Ohno K, Yamada H, Kawakita T, Dogru M, Shimazaki J, Tsubota K, Tsuneoka H. | 03/1/2014 |
| 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. | Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
Cao W, Yan M, Hao Q, Wang S, Wu L, Liu Q, Li M, Biddle FG, Wu W. | 01/18/2014 |
| 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. | Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
Hassan H, Thaung C, Ebenezer ND, Larkin G, Hardcastle AJ, Tuft SJ., Free PMC Article | 08/3/2013 |
| 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. | Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.
Allen EHA, Atkinson SD, Liao H, Moore JE, Pedrioli DML, Smith FJD, McLean WHI, Moore CBT., Free PMC Article | 03/23/2013 |
| Novel missense mutation within the highly conserved helix-initiation motif of KRT12 causing Meesmann's corneal dystrophy in a German family. | Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
Clausen I, Duncker GI, Grünauer-Kloevekorn C., Free PMC Article | 08/30/2010 |
| The novel L433R mutation of the KRT12 gene found in two members of this Japanese family caused Meesmann corneal dystrophy (MECD). | A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
Seto T, Fujiki K, Kishishita H, Fujimaki T, Murakami A, Kanai A. | 01/21/2010 |
| 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. | A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
Nielsen K, Orntoft T, Hjortdal J, Rasmussen T, Ehlers N. | 01/21/2010 |
| 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. | A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW., Free PMC Article | 01/21/2010 |
| A novel missense mutation (Y429C) in KRT12 lead to MCD in 2 unrelated Taiwanese families. | Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
Chen YT, Tseng SH, Chao SC. | 01/21/2010 |
| Mutation in the KRT12 gene is associated with Meesmann corneal dystrophy | Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
Nichini O, Manzi Vd, Munier FL, Schorderet DF. | 01/21/2010 |
| Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. | Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A. | 01/21/2010 |