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: V426F

PubMed Link: 36579626

Variant Present in the following documents:

• dmm-16-049816-s1.pdf

View BVdb publication page

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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: V426F

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

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Normal tension glaucoma-like degeneration of the visual system in aged marmosets.

Scientific Reports

Noro, Takahiko T; Namekata, Kazuhiko K; Kimura, Atsuko A; Azuchi, Yuriko Y; Hashimoto, Nanako N; Moriya-Ito, Keiko K; Komaki, Yuji Y; Lee, Chia-Ying CY; Okahara, Norio N; Guo, Xiaoli X; Harada, Chikako C; Kim, Euido E; Nakano, Tadashi T; Tsuneoka, Hiroshi H; Inoue, Takashi T; Sasaki, Erika E; Tokuno, Hironobu H; Harada, Takayuki T

Publication Date: 2019-10-16

Variant appearance in text: MYOC: Val426Phe

PubMed Link: 31619716

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51281.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: Val426Phe

PubMed Link: 30483726

Variant Present in the following documents:

• Main text
• ijmm-43-02-0671.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: V426F

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: V426F

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: V426F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Molecular Vision

Millá, Elena E; Mañé, Begoña B; Duch, Susana S; Hernan, Imma I; Borràs, Emma E; Planas, Ester E; Dias, Miguel de Sousa Mde S; Carballo, Miguel M; Gamundi, María José MJ; ,

Publication Date: 2013

Variant appearance in text: MYOC: Val426Phe

PubMed Link: 23922489

Variant Present in the following documents:

• Main text
• mv-v19-1707.pdf

View BVdb publication page

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