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: E300K

PubMed Link: 36579626

Variant Present in the following documents:

• Main text
• dmm-16-049816-s1.pdf

View BVdb publication page

---

Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.

International Journal Of Ophthalmology

Moon, Sangwoo S; Kim, Namhee N; Lee, Jiwoong J

Publication Date: 2020

Variant appearance in text: MYOC: Glu300Lys

PubMed Link: 33214997

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: E300K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.

International Journal Of Ophthalmology

Yao, Yi-Hua YH; Wang, Ya-Qin YQ; Fang, Wei-Fang WF; Zhang, Liu L; Yang, Ju-Hua JH; Zhu, Yi-Hua YH

Publication Date: 2018

Variant appearance in text: MYOC: 898G>A; E300K

PubMed Link: 29600168

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.

Investigative Ophthalmology & Visual Science

Zadoo, Serena S; Nguyen, Annie A; Zode, Gulab G; Hulleman, John D JD

Publication Date: 2016-04-01

Variant appearance in text: MYOC: E300K

PubMed Link: 27092720

Variant Present in the following documents:

• Main text
• i1552-5783-57-4-1939.pdf

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: E300K

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: E300K

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: E300K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

International Journal Of Molecular Medicine

Wang, Fengyun F; Li, Yang Y; Lan, Lan L; Li, Bo B; Lin, Li L; Lu, Xiaohe X; Li, Jiping J

Publication Date: 2015-05

Variant appearance in text: MYOC: E300K

PubMed Link: 25777973

Variant Present in the following documents:

• Main text
• ijmm-35-05-1230.pdf

View BVdb publication page

---

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.

Molecular Vision

Zhao, Xin X; Yang, Chaoshan C; Tong, Yi Y; Zhang, Xiaohui X; Xu, Liang L; Li, Yang Y

Publication Date: 2010-08-25

Variant appearance in text: MYOC: E300K

PubMed Link: 20806035

Variant Present in the following documents:

• Main text

View BVdb publication page

---