Publications:

---

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: D380A

PubMed Link: 36579626

Variant Present in the following documents:

• Main text
• dmm-16-049816-s1.pdf

View BVdb publication page

---

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: D380A

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

View BVdb publication page

---

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: GLC1A: Asp380Ala

PubMed Link: 30483726

Variant Present in the following documents:

• Main text
• ijmm-43-02-0671.pdf

View BVdb publication page

---

Metabolic engineering for the microbial production of isoprenoids: Carotenoids and isoprenoid-based biofuels.

Synthetic And Systems Biotechnology

Niu, Fu-Xing FX; Lu, Qian Q; Bu, Yi-Fan YF; Liu, Jian-Zhong JZ

Publication Date: 2017-09

Variant appearance in text: TIGR: D380A

PubMed Link: 29318197

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D380A

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: D380A

PubMed Link: 26302411

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: D380A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

The olfactomedin domain from gliomedin is a β-propeller with unique structural properties.

The Journal Of Biological Chemistry

Han, Huijong H; Kursula, Petri P

Publication Date: 2015-02-06

Variant appearance in text: MYOC: D380A

PubMed Link: 25525261

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.

Journal Of Ocular Pharmacology And Therapeutics : The Official Journal Of The Association For Ocular Pharmacology And Therapeutics

Borrás, Teresa T

Publication Date: 2014

Variant appearance in text: MYOC: D380A

PubMed Link: 24564495

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A role for myocilin in receptor-mediated endocytosis.

Plos One

McKay, Brian S BS; Congrove, Nicole R NR; Johnson, Adiv A AA; Dismuke, W Michael WM; Bowen, Trent J TJ; Stamer, W Daniel WD

Publication Date: 2013

Variant appearance in text: TIGR: Asp380Ala

PubMed Link: 24367514

Variant Present in the following documents:

• pone.0082301.pdf

View BVdb publication page

---

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: TIGR: Asp380Ala

PubMed Link: 22876119

Variant Present in the following documents:

• mv-v18-1944.pdf

View BVdb publication page

---

Cystatin a, a potential common link for mutant myocilin causative glaucoma.

Plos One

Kennedy, K David KD; AnithaChristy, S A SA; Buie, Lakisha K LK; Borrás, Teresa T

Publication Date: 2012

Variant appearance in text: MYOC: D380A

PubMed Link: 22615763

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.

Molecular Vision

Wei, Yan-Tao YT; Li, Yi-Qing YQ; Bai, Yu-Jing YJ; Wang, Mei M; Chen, Jun-Hong JH; Ge, Jian J; Zhuo, Ye-Hong YH

Publication Date: 2011

Variant appearance in text: MYOC: D380A

PubMed Link: 21677793

Variant Present in the following documents:

• Main text
• mv-v17-1449.pdf

View BVdb publication page

---

The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

Molecular Vision

Avisar, Inbal I; Lusky, Moshe M; Robinson, Anat A; Shohat, Mordechai M; Dubois, Stéphane S; Raymond, Vincent V; Gaton, Dan D DD

Publication Date: 2009-09-24

Variant appearance in text: MYOC: D380A

PubMed Link: 19784393

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.

Molecular Vision

Aroca-Aguilar, José-Daniel JD; Sánchez-Sánchez, Francisco F; Martínez-Redondo, Francisco F; Coca-Prados, Miguel M; Escribano, Julio J

Publication Date: 2008

Variant appearance in text: MYOC: D380A

PubMed Link: 19023451

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Glaucoma-associated myocilin: a better understanding but much more to learn.

Experimental Eye Research

Resch, Zachary T ZT; Fautsch, Michael P MP

Publication Date: 2009-04

Variant appearance in text: MYOC: D380A

PubMed Link: 18804106

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Asp380Ala

PubMed Link: 18776955

Variant Present in the following documents:

• Main text
• mv-v14-1666.pdf

View BVdb publication page

---

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

American Journal Of Ophthalmology

Wirtz, Mary K MK; Samples, John R JR; Choi, Dongseok D; Gaudette, N Donna ND

Publication Date: 2007-07

Variant appearance in text: MYOC: Asp380Ala

PubMed Link: 17499207

Variant Present in the following documents:

• Main text

View BVdb publication page

---