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: G252R

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: G252R

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

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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: Gly252Arg

PubMed Link: 33214997

Variant Present in the following documents:

• Main text

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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: G252R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Updates on the molecular genetics of primary congenital glaucoma (Review).

Experimental And Therapeutic Medicine

Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X

Publication Date: 2020-08

Variant appearance in text: rs74315341

PubMed Link: 32742340

Variant Present in the following documents:

• Main text
• etm-20-02-0968.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: Gly252Arg

PubMed Link: 30483726

Variant Present in the following documents:

• Main text
• ijmm-43-02-0671.pdf

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A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma.

Plos One

Nazir, Sabeen S; Mukhtar, Maryam M; Shahnawaz, Maryam M; Farooqi, Shaima S; Fatima, Naz N; Mehmood, Rabia R; Sheikh, Nadeem N

Publication Date: 2018

Variant appearance in text: rs74315341

PubMed Link: 29630620

Variant Present in the following documents:

• Main text
• pone.0195157.pdf

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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: G252R

PubMed Link: 27092720

Variant Present in the following documents:

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

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Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Sharma, Reetika R; Dada, Rima R; Mohanty, Kuldeep K; Saluja, Daman D; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: MYOC: Gly252Arg

PubMed Link: 26997785

Variant Present in the following documents:

• Main text

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Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.

Journal Of Current Glaucoma Practice

Faiq, Muneeb M; Mohanty, Kuldeep K; Dada, Rima R; Dada, Tanuj T

Publication Date: 2013

Variant appearance in text: GLC1A: Gly252Arg

PubMed Link: 26997777

Variant Present in the following documents:

• Main text
• jocgp-07-025.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: G252R

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: G252R

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: G252R

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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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: G252R

PubMed Link: 25777973

Variant Present in the following documents:

• Main text
• ijmm-35-05-1230.pdf

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A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.

European Journal Of Medical Genetics

Kuchtey, John J; Chowdhury, Uttio Roy UR; Uptegraft, Colby C CC; Fautsch, Michael P MP; Kuchtey, Rachel W RW

Publication Date: 2013-06

Variant appearance in text: MYOC: G252R

PubMed Link: 23517641

Variant Present in the following documents:

• Main text

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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: Gly252Arg

PubMed Link: 22876119

Variant Present in the following documents:

• Main text
• mv-v18-1944.pdf

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Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.

Eye (London, England)

Gemenetzi, M M; Yang, Y Y; Lotery, A J AJ

Publication Date: 2012-03

Variant appearance in text: MYOC: Gly252Arg

PubMed Link: 22173078

Variant Present in the following documents:

• Main text

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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: G252R

PubMed Link: 20806035

Variant Present in the following documents:

• Main text
• mv-v16-1728.pdf

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Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Molecular Vision

Jia, Li-Yun LY; Tam, Pancy Oi-Sin PO; Chiang, Sylvia Wai-Yee SW; Ding, Ning N; Chen, Li Jia LJ; Yam, Gary Hin-Fai GH; Pang, Chi-Pui CP; Wang, Ning-Li NL

Publication Date: 2009

Variant appearance in text: MYOC: Gly252Arg

PubMed Link: 19145250

Variant Present in the following documents:

• Main text

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Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.

Molecular Vision

Hewitt, Alex W AW; Samples, John R JR; Allingham, R Rand RR; Järvelä, Irma I; Kitsos, George G; Krishnadas, Subbaiah R SR; Richards, Julia E JE; Lichter, Paul R PR; Petersen, Michael B MB; Sundaresan, Periasamy P; Wiggs, Janey L JL; Mackey, David A DA; Wirtz, Mary K MK

Publication Date: 2007-03-28

Variant appearance in text: GLC1A: Gly252Arg

PubMed Link: 17417609

Variant Present in the following documents:

• mv-v13-487.pdf

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Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

American Journal Of Human Genetics

Vincent, Andrea L AL; Billingsley, Gail G; Buys, Yvonne Y; Levin, Alex V AV; Priston, Megan M; Trope, Graham G; Williams-Lyn, Donna D; Héon, Elise E

Publication Date: 2002-02

Variant appearance in text: MYOC: Gly252Arg

PubMed Link: 11774072

Variant Present in the following documents:

• Main text

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Genetic screening in a large family with juvenile onset primary open angle glaucoma.

The British Journal Of Ophthalmology

Booth, A P AP; Anwar, R R; Chen, H H; Churchill, A J AJ; Jay, J J; Polansky, J J; Nguyen, T T; Markham, A F AF

Publication Date: 2000-07

Variant appearance in text: TIGR: Gly252Arg

PubMed Link: 10873982

Variant Present in the following documents:

• Main text

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