Publications:

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: MYOC: W286R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Myocilin Mutations in Patients With Normal-Tension Glaucoma.

Jama Ophthalmology

Alward, Wallace L M WLM; van der Heide, Carly C; Khanna, Cheryl L CL; Roos, Ben R BR; Sivaprasad, Sobha S; Kam, Jason J; Ritch, Robert R; Lotery, Andrew A; Igo, Robert P RP; Cooke Bailey, Jessica N JN; Stone, Edwin M EM; Scheetz, Todd E TE; Kwon, Young H YH; Pasquale, Louis R LR; Wiggs, Janey L JL; Fingert, John H JH; ,

Publication Date: 2019-05-01

Variant appearance in text: MYOC: TRP286ARG

PubMed Link: 30816940

Variant Present in the following documents:

• Main text

View BVdb publication page

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Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).

International Journal Of Molecular Medicine

Wang, Hongwei H; Li, Mingzhe M; Zhang, Zhenzhen Z; Xue, Haifeng H; Chen, Xing X; Ji, Yong Y

Publication Date: 2019-02

Variant appearance in text: MYOC: Trp286Arg

PubMed Link: 30483726

Variant Present in the following documents:

• Main text
• ijmm-43-02-0671.pdf

View BVdb publication page

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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: GLC1A: W286R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.

Experimental Eye Research

Stothert, Andrew R AR; Fontaine, Sarah N SN; Sabbagh, Jonathan J JJ; Dickey, Chad A CA

Publication Date: 2016-03

Variant appearance in text: MYOC: W286R

PubMed Link: 26302411

Variant Present in the following documents:

• Main text

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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: MYOC: W286R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma.

Human Molecular Genetics

Stothert, Andrew R AR; Suntharalingam, Amirthaa A; Huard, Dustin J E DJ; Fontaine, Sarah N SN; Crowley, Vincent M VM; Mishra, Sanket S; Blagg, Brian S J BS; Lieberman, Raquel L RL; Dickey, Chad A CA

Publication Date: 2014-12-15

Variant appearance in text: MYOC: W286R

PubMed Link: 25027323

Variant Present in the following documents:

• Main text

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Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.

Molecular Vision

Mendoza-Reinoso, Veronica V; Patil, Teja S TS; Guevara-Fujita, Maria L ML; Fernández, Silvia S; Vargas, Enrique E; Castillo-Herrera, Wilder W; Perez-Grossmann, Rodolfo R; Lizaraso-Caparó, Frank F; Richards, Julia E JE; Fujita, Ricardo R

Publication Date: 2012

Variant appearance in text: MYOC: Trp286Arg

PubMed Link: 22879734

Variant Present in the following documents:

• Main text
• mv-v18-2067.pdf

View BVdb publication page

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