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: R272G

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: R272G

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

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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: Arg272Gly

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: R272G

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: R272G

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: R272G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.

Molecular Vision

Cai, Su-ping SP; Muhemaiti, Paerheti P; Yin, Yan Y; Cheng, Hongbo H; Di Ya, A A; Keyimu, Maliyamu M; Cao, Xu X; Fan, Ning N; Jiang, Liqiong L; Yan, Naihong N; Zhou, Xiaomin X; Wang, Yun Y; Liu, Xuyang X

Publication Date: 2012

Variant appearance in text: MYOC: Arg272Gly

PubMed Link: 22876119

Variant Present in the following documents:

• Main text
• mv-v18-1944.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: R272G

PubMed Link: 11992263

Variant Present in the following documents:

• Main text

View BVdb publication page

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