Publications:

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Molecular Vision

Chen, Judy L JL; Lin, Benjamin R BR; Gee, Katherine M KM; Gee, Jessica A JA; Chung, Duk-Won D DW; Frausto, Ricardo F RF; Deng, Sophie X SX; Aldave, Anthony J AJ

Publication Date: 2015

Variant appearance in text: KRT12: 1276A>G; Ile426Val

PubMed Link: 26788030

Variant Present in the following documents:

• Main text
• mv-v21-1378.pdf

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy

Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB

Publication Date: 2016-01

Variant appearance in text: KRT12: I426V

PubMed Link: 26289666

Variant Present in the following documents:

• gt201582x1.xls, sheet 1

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: KRT12: 1276A>G; I426V

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

Molecular Vision

Szaflik, Jacek P JP; Ołdak, Monika M; Maksym, Radosław B RB; Kamińska, Anna A; Pollak, Agnieszka A; Udziela, Monika M; Płoski, Rafał R; Szaflik, Jerzy J

Publication Date: 2008-09-15

Variant appearance in text: KRT12: I426V

PubMed Link: 18806880

Variant Present in the following documents:

• Main text

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A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Molecular Vision

Sullivan, Lori S LS; Baylin, Eric B EB; Font, Ramon R; Daiger, Stephen P SP; Pepose, Jay S JS; Clinch, Thomas E TE; Nakamura, Hisashi H; Zhao, Xinping C XC; Yee, Richard W RW

Publication Date: 2007-06-21

Variant appearance in text: KRT12: I426V

PubMed Link: 17653038

Variant Present in the following documents:

• Main text
• mv-v13-975.pdf

View BVdb publication page