Publications:

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Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Disease Models & Mechanisms

Scelsi, Hailee F HF; Hill, Kamisha R KR; Barlow, Brett M BM; Martin, Mackenzie D MD; Lieberman, Raquel L RL

Publication Date: 2022-12-29

Variant appearance in text: MYOC: I477S

PubMed Link: 36579626

Variant Present in the following documents:

• dmm-16-049816-s1.pdf

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Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.

Genes

Tanji, Tarin T; Cohen, Emily E; Shen, Darrick D; Zhang, Chi C; Yu, Fei F; Coleman, Anne L AL; Zheng, Jie J JJ

Publication Date: 2021-11-16

Variant appearance in text: MYOC: I477S

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

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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: I477S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: Ile477Ser

PubMed Link: 30483726

Variant Present in the following documents:

• Main text
• ijmm-43-02-0671.pdf

View BVdb publication page

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A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.

Plos One

Nazir, Sabeen S; Mukhtar, Maryam M; Shahnawaz, Maryam M; Farooqi, Shaima S; Fatima, Naz N; Mehmood, Rabia R; Sheikh, Nadeem N

Publication Date: 2018

Variant appearance in text: rs74315331

PubMed Link: 29630620

Variant Present in the following documents:

• Main text
• pone.0195157.pdf

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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: I477S

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: I477S

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: I477S

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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Myocilin, a glaucoma-associated protein, promotes cell migration through activation of integrin-focal adhesion kinase-serine/threonine kinase signaling pathway.

Journal Of Cellular Physiology

Kwon, Heung Sun HS; Tomarev, Stanislav I SI

Publication Date: 2011-12

Variant appearance in text: MYOC: Ile477Ser

PubMed Link: 21656515

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Molecular Vision

Xie, Xiaobing X; Zhou, Xin X; Qu, Xiying X; Wen, Jing J; Tian, Yanli Y; Zheng, Fang F

Publication Date: 2008-09-05

Variant appearance in text: MYOC: Ile477Ser

PubMed Link: 18776955

Variant Present in the following documents:

• Main text
• mv-v14-1666.pdf

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Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.

American Journal Of Human Genetics

Copin, Bruno B; Brézin, Antoine P AP; Valtot, Françoise F; Dascotte, Jean-Claude JC; Béchetoille, Alain A; Garchon, Henri-Jean HJ

Publication Date: 2002-06

Variant appearance in text: MYOC: I477S

PubMed Link: 11992263

Variant Present in the following documents:

• Main text

View BVdb publication page

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