Publications:

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Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Frontiers In Genetics

Zhou, Biting B; Lin, Xiaojia X; Li, Zhong Z; Yao, Yihua Y; Yang, Juhua J; Zhu, Yihua Y

Publication Date: 2022

Variant appearance in text: MYOC: R126W

PubMed Link: 36267417

Variant Present in the following documents:

• Main text
• fgene-13-1019208.pdf
• Table2.xlsx, sheet 1

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Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.

Molecular Vision

Yan, Xuejing X; Wu, Shen S; Liu, Qian Q; Li, Yang Y; Zhu, Wei W; Zhang, Jingxue J

Publication Date: 2020

Variant appearance in text: MYOC: R126W

PubMed Link: 32818018

Variant Present in the following documents:

• Main text
• mv-v26-563.pdf

View BVdb publication page

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Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Scientific Reports

O'Gorman, Luke L; Cree, Angela J AJ; Ward, Daniel D; Griffiths, Helen L HL; Sood, Roshan R; Denniston, Alastair K AK; Self, Jay E JE; Ennis, Sarah S; Lotery, Andrew J AJ; Gibson, Jane J

Publication Date: 2019-02-28

Variant appearance in text: MYOC: R126W; rs200120115

PubMed Link: 30816137

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38760.pdf
• 41598_2019_38760_MOESM1_ESM.pdf

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Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.

The Journal Of Biological Chemistry

Lynch, Jeffrey M JM; Li, Bing B; Katoli, Parvaneh P; Xiang, Chuanxi C; Leehy, Barrett B; Rangaswamy, Nalini N; Saenz-Vash, Veronica V; Wang, Y Karen YK; Lei, Hong H; Nicholson, Thomas B TB; Meredith, Erik E; Rice, Dennis S DS; Prasanna, Ganesh G; Chen, Amy A

Publication Date: 2018-12-28

Variant appearance in text: MYOC: R126W

PubMed Link: 30389787

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: MYOC: 376C>T; R126W

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: R126W

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: R126W

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: R126W

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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Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma.

International Journal Of Ophthalmology

Zhou, Xiao-Min XM; Yin, Yan Y; Fan, Ning N; Cheng, Hong-Bo HB; Li, Xiao-Hong XH; Wang, Yun Y; Yu, Wen-Han WH; Cai, Su-Ping SP; Liu, Xu-Yang XY

Publication Date: 2013

Variant appearance in text: MYOC: R126W

PubMed Link: 23826516

Variant Present in the following documents:

• Main text

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Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.

Molecular Vision

Young, Thomas K TK; Souzeau, Emmanuelle E; Liu, Lance L; Kearns, Lisa S LS; Burdon, Kathryn P KP; Craig, Jamie E JE; Ruddle, Jonathan B JB

Publication Date: 2012

Variant appearance in text: MYOC: Arg126Trp

PubMed Link: 23304066

Variant Present in the following documents:

• Main text
• mv-v18-3064.pdf

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Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.

Molecular Vision

Rose, Rajiv R; Balakrishnan, Anandan A; Muthusamy, Karthikeyan K; Arumugam, Paramasivam P; Shanmugam, Sambandham S; Gopalswamy, Jayaraman J

Publication Date: 2011

Variant appearance in text: MYOC: Arg126Trp

PubMed Link: 22194650

Variant Present in the following documents:

• Main text
• mv-v17-3243.pdf

View BVdb publication page

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