Publications:

---

Development of a Corneal Bioluminescence Mouse for Real-Time In Vivo Evaluation of Gene Therapies.

Translational Vision Science & Technology

Fu, Dun Jack DJ; Allen, Edwin H A EHA; Hickerson, Robyn P RP; Leslie Pedrioli, Deena M DM; McLean, W H Irwin WHI

Publication Date: 2020-12

Variant appearance in text: KRT3: 1525G>A; E509K

PubMed Link: 33442498

Variant Present in the following documents:

• Main text
• tvst-9-13-44.pdf

View BVdb publication page

---

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: KRT3: E509K; rs57872071

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: KRT3: 1525G>A; Glu509Lys

PubMed Link: 26788030

Variant Present in the following documents:

• Main text
• mv-v21-1378.pdf

View BVdb publication page

---

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

Human Molecular Genetics

Allen, Edwin H A EH; Courtney, David G DG; Atkinson, Sarah D SD; Moore, Johnny E JE; Mairs, Laura L; Poulsen, Ebbe Toftgaard ET; Schiroli, Davide D; Maurizi, Eleonora E; Cole, Christian C; Hickerson, Robyn P RP; James, John J; Murgatroyd, Helen H; Smith, Frances J D FJ; MacEwen, Carrie C; Enghild, Jan J JJ; Nesbit, M Andrew MA; Leslie Pedrioli, Deena M DM; McLean, W H Irwin WH; Moore, C B Tara CB

Publication Date: 2016-03-15

Variant appearance in text: KRT3: 1525G>A; Glu509Lys

PubMed Link: 26758872

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs57872071

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: KRT3: E509K

PubMed Link: 26289666

Variant Present in the following documents:

• gt201582x1.xls, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KRT3: E509K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

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: KRT3: 1525G>A; Glu509Lys

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: KRT3: E509K

PubMed Link: 18806880

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: KRT3: E509K

PubMed Link: 17653038

Variant Present in the following documents:

• Main text
• mv-v13-975.pdf

View BVdb publication page

---