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Quoted phrase not found in phrase index: "Corneal dystrophy, Meesmann, 1"
Page 1
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. Hassan H, et al. Eye (Lond). 2013 Mar;27(3):367-73. doi: 10.1038/eye.2012.261. Epub 2012 Dec 7. Eye (Lond). 2013. PMID: 23222558 Free PMC article.
PURPOSE: To describe a severe phenotype of Meesmann's epithelial corneal dystrophy (MECD) and to determine the underlying molecular cause. ...In some individuals, the cornea became superficially vascularized, a change accompanied by the loss of clinica …
PURPOSE: To describe a severe phenotype of Meesmann's epithelial corneal dystrophy (MECD) and to determine the u …
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. Chen YT, et al. Cornea. 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. Cornea. 2005. PMID: 16227835
PURPOSE: To analyze mutations of the keratin 3 gene (KRT3) and keratin 12 gene (KRT12) in 2 Taiwanese families with Meesmann corneal dystrophy (MCD). METHODS: Diagnosis of MCD was confirmed by slit-lamp examination of the cornea in 4 members of family 1 and 6 …
PURPOSE: To analyze mutations of the keratin 3 gene (KRT3) and keratin 12 gene (KRT12) in 2 Taiwanese families with Meesmann corne …
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, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH. Corden LD, et al. Exp Eye Res. 2000 Jan;70(1):41-9. doi: 10.1006/exer.1999.0769. Exp Eye Res. 2000. PMID: 10644419
Recently, we identified the first mutations in corneal keratins K3 and K12 in families with Meesmann's corneal dystrophy (MCD). ...A novel mutation was detected in an American kindred, 410T-->C, which predicts the amino acid substitution M129 …
Recently, we identified the first mutations in corneal keratins K3 and K12 in families with Meesmann's corneal dystr …
Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
Chen JL, Lin BR, Gee KM, Gee JA, Chung DW, Frausto RF, Deng SX, Aldave AJ. Chen JL, et al. Mol Vis. 2015 Dec 31;21:1378-86. eCollection 2015. Mol Vis. 2015. PMID: 26788030 Free PMC article.
PURPOSE: To report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD). METHODS: Slit-lamp examination was performed on the probands and available …
PURPOSE: To report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically …
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH. Coleman CM, et al. Am J Ophthalmol. 1999 Dec;128(6):687-91. doi: 10.1016/s0002-9394(99)00317-7. Am J Ophthalmol. 1999. PMID: 10612503
PURPOSE: Meesmann corneal dystrophy is an autosomal dominant disorder characterized by fragility of the anterior corneal epithelium. ...CONCLUSION: We report a novel mutation in a critical molecular overlap region of K12 in a United States family with …
PURPOSE: Meesmann corneal dystrophy is an autosomal dominant disorder characterized by fragility of the anterior cor …
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. Allen EHA, et al. Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):494-502. doi: 10.1167/iovs.12-10528. Invest Ophthalmol Vis Sci. 2013. PMID: 23233254 Free PMC article.
PURPOSE: To identify an allele-specific short interfering RNA (siRNA), against the common KRT12 mutation Arg135Thr in Meesmann epithelial corneal dystrophy (MECD) as a personalized approach to treatment. ...We confirmed siRNA-mediated knockdown by the …
PURPOSE: To identify an allele-specific short interfering RNA (siRNA), against the common KRT12 mutation Arg135Thr in Meesmann epi …