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: A427T

PubMed Link: 36579626

Variant Present in the following documents:

• Main text
• dmm-16-049816-s1.pdf

View BVdb publication page

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Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

The Journal Of Pathology

Cyrta, Joanna J; Prandi, Davide D; Arora, Arshi A; Hovelson, Daniel H DH; Sboner, Andrea A; Rodriguez, Antonio A; Fedrizzi, Tarcisio T; Beltran, Himisha H; Robinson, Dan R DR; Gopalan, Anuradha A; True, Lawrence L; Nelson, Peter S PS; Robinson, Brian D BD; Mosquera, Juan Miguel JM; Tomlins, Scott A SA; Shen, Ronglai R; Demichelis, Francesca F; Rubin, Mark A MA

Publication Date: 2022-07

Variant appearance in text: MYOC: A427T

PubMed Link: 35220606

Variant Present in the following documents:

• PATH-257-274-s001.xlsx, sheet 4

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: A427T

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

View BVdb publication page

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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: A427T

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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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: Ala427Thr

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: A427T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Glaucomatous MYOC mutations activate the IL-1/NF-κB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.

Molecular Vision

Itakura, Tatsuo T; Peters, Donna M DM; Fini, M Elizabeth ME

Publication Date: 2015

Variant appearance in text: MYOC: A427T

PubMed Link: 26396484

Variant Present in the following documents:

• Main text
• mv-v21-1071.pdf

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: A427T

PubMed Link: 26302411

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A427T

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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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: Ala427Thr

PubMed Link: 23922489

Variant Present in the following documents:

• Main text
• mv-v19-1707.pdf

View BVdb publication page

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Comprehensive analysis of myocilin variants in east Indian POAG patients.

Molecular Vision

Banerjee, Deblina D; Bhattacharjee, Ashima A; Ponda, Archisman A; Sen, Abhijit A; Ray, Kunal K

Publication Date: 2012

Variant appearance in text: MYOC: 1279G>A; Ala427Thr

PubMed Link: 22736945

Variant Present in the following documents:

• Main text
• mv-v18-1548.pdf

View BVdb publication page

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