scholarly journals 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

2004 ◽  
Vol 88 (6) ◽  
pp. 752-756 ◽  
Author(s):  
M K Yoon
Keyword(s):  
Corneal Dystrophy ◽  
Insertion Mutation ◽  
Substitution Mutation ◽  
Keratin 12

scholarly journals Allele-Specific siRNA Silencing for the Common Keratin 12 Founder Mutation in Meesmann Epithelial Corneal Dystrophy

2013 ◽  
Vol 54 (1) ◽  
pp. 494 ◽  
Author(s):  
Edwin H. A. Allen ◽  
Sarah D. Atkinson ◽  
Haihui Liao ◽  
Jonathan E. Moore ◽  
Deena M. Leslie Pedrioli ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Corneal Dystrophy ◽  
Allele Specific ◽  
The Common ◽  
Sirna Silencing ◽  
Keratin 12

scholarly journals Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy

2016 ◽  
Vol 25 (6) ◽  
pp. 1176-1191 ◽  
Author(s):  
Edwin H.A. Allen ◽  
David G. Courtney ◽  
Sarah D. Atkinson ◽  
Johnny E. Moore ◽  
Laura Mairs ◽  
...  
Keyword(s):  
Unfolded Protein Response ◽  
Missense Mutation ◽  
Corneal Dystrophy ◽  
Unfolded Protein ◽  
The Unfolded Protein Response ◽  
Protein Response ◽  
Keratin 12

siRNA Silencing of the Mutant Keratin 12 Allele in Corneal Limbal Epithelial Cells Grown From Patients With Meesmann's Epithelial Corneal Dystrophy

2014 ◽  
Vol 55 (5) ◽  
pp. 3352 ◽  
Author(s):  
David G. Courtney ◽  
Sarah D. Atkinson ◽  
Edwin H. A. Allen ◽  
Johnny E. Moore ◽  
Colum P. Walsh ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Corneal Dystrophy ◽  
Sirna Silencing ◽  
Keratin 12

scholarly journals Severe Meesmann’s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12

Eye ◽  
2012 ◽  
Vol 27 (3) ◽  
pp. 367-373 ◽  
Author(s):  
H Hassan ◽  
C Thaung ◽  
N D Ebenezer ◽  
G Larkin ◽  
A J Hardcastle ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Corneal Dystrophy ◽  
Keratin 12

Molecular Genetics of Meesmann's Corneal Dystrophy: Ancestral and Novel Mutations in Keratin 12 (K12) and Complete Sequence of the Human KRT12 Gene

2000 ◽  
Vol 70 (1) ◽  
pp. 41-49 ◽  
Author(s):  
LAURA D. CORDEN ◽  
OLE SWENSSON ◽  
BEATE SWENSSON ◽  
FRANCES J.D. SMITH ◽  
RAINER ROCHELS ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Corneal Dystrophy ◽  
Complete Sequence ◽  
Novel Mutations ◽  
Keratin 12

Meesmann Corneal Dystrophy (MECD): Report of 2 Families and a Novel Mutation in the Cornea Specific Keratin 12 (KRT12) Gene

2005 ◽  
Vol 26 (4) ◽  
pp. 169-173 ◽  
Author(s):  
Olivia Nichini ◽  
Violaine d'Allèves Manzi ◽  
Francis L. Munier ◽  
Daniel F. Schorderet
Keyword(s):  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Keratin 12
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