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: T377M

PubMed Link: 36579626

Variant Present in the following documents:

• Main text
• dmm-16-049816-s1.pdf

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Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Frontiers In Genetics

Zhou, Biting B; Lin, Xiaojia X; Li, Zhong Z; Yao, Yihua Y; Yang, Juhua J; Zhu, Yihua Y

Publication Date: 2022

Variant appearance in text: MYOC: T377M

PubMed Link: 36267417

Variant Present in the following documents:

• Main text
• fgene-13-1019208.pdf

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Whole exome sequencing of known eye genes reveals genetic causes for high myopia.

Human Molecular Genetics

Haarman, Annechien E G AEG; Thiadens, Alberta A H J AAHJ; van Tienhoven, Marianne M; Loudon, Sjoukje E SE; de Klein, J E M M Annelies JEMMA; Brosens, Erwin E; Polling, Jan Roelof JR; van der Schoot, Vyne V; Bouman, Arjan A; Kievit, Anneke J A AJA; Hoefsloot, Lies H LH; Klaver, Caroline C W CCW; Verhoeven, Virginie J M VJM

Publication Date: 2022-09-29

Variant appearance in text: MYOC: 1130C>T; Thr377Met; rs566289099

PubMed Link: 35567543

Variant Present in the following documents:

• supplemental_table_1_ddac113.xlsx, sheet 1

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Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?

Journal Of Clinical Medicine

Belamkar, Aditya A; Harris, Alon A; Oddone, Francesco F; Verticchio Vercellin, Alice A; Fabczak-Kubicka, Anna A; Siesky, Brent B

Publication Date: 2022-04-28

Variant appearance in text: MYOC: 1130C>T; Thr377Met

PubMed Link: 35566612

Variant Present in the following documents:

• jcm-11-02486.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: T377M

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: Thr377Met

PubMed Link: 33214997

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transient commensal clonal interactions can drive tumor metastasis.

Nature Communications

Naffar-Abu Amara, Suha S; Kuiken, Hendrik J HJ; Selfors, Laura M LM; Butler, Timothy T; Leung, Marco L ML; Leung, Cheuk T CT; Kuhn, Elaine P EP; Kolarova, Teodora T; Hage, Carina C; Ganesh, Kripa K; Panayiotou, Richard R; Foster, Rosemary R; Rueda, Bo R BR; Aktipis, Athena A; Spellman, Paul P; Ince, Tan A TA; Xiu, Joanne J; Oberley, Matthew M; Gatalica, Zoran Z; Navin, Nicholas N; Mills, Gordon B GB; Bronson, Rodrick T RT; Brugge, Joan S JS

Publication Date: 2020-11-16

Variant appearance in text: MYOC: T377M

PubMed Link: 33199705

Variant Present in the following documents:

• 41467_2020_19584_MOESM4_ESM.xlsx, sheet 1
• 41467_2020_19584_MOESM4_ESM.xlsx, sheet 2

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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: T377M

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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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: Thr377Met

PubMed Link: 31619716

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51281.pdf

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Myocilin Mutations in Patients With Normal-Tension Glaucoma.

Jama Ophthalmology

Alward, Wallace L M WLM; van der Heide, Carly C; Khanna, Cheryl L CL; Roos, Ben R BR; Sivaprasad, Sobha S; Kam, Jason J; Ritch, Robert R; Lotery, Andrew A; Igo, Robert P RP; Cooke Bailey, Jessica N JN; Stone, Edwin M EM; Scheetz, Todd E TE; Kwon, Young H YH; Pasquale, Louis R LR; Wiggs, Janey L JL; Fingert, John H JH; ,

Publication Date: 2019-05-01

Variant appearance in text: MYOC: THR377MET

PubMed Link: 30816940

Variant Present in the following documents:

• Main text

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: Thr377Met

PubMed Link: 30483726

Variant Present in the following documents:

• Main text

View BVdb publication page

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Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.

The Journal Of Biological Chemistry

Lynch, Jeffrey M JM; Li, Bing B; Katoli, Parvaneh P; Xiang, Chuanxi C; Leehy, Barrett B; Rangaswamy, Nalini N; Saenz-Vash, Veronica V; Wang, Y Karen YK; Lei, Hong H; Nicholson, Thomas B TB; Meredith, Erik E; Rice, Dennis S DS; Prasanna, Ganesh G; Chen, Amy A

Publication Date: 2018-12-28

Variant appearance in text: MYOC: T377M

PubMed Link: 30389787

Variant Present in the following documents:

• Main text

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: T377M

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: T377M

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: T377M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.

Molecular Vision

Mimivati, Z Z; Nurliza, K K; Marini, M M; Liza-Sharmini, At A

Publication Date: 2014

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 24883016

Variant Present in the following documents:

• Main text
• mv-v20-714.pdf

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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: T377M

PubMed Link: 24564495

Variant Present in the following documents:

• Main text

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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: MYOC: T377M

PubMed Link: 24367514

Variant Present in the following documents:

• Main text
• pone.0082301.pdf

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Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma.

Clinical Genetics

Wiggs, J L JL; Howell, G R GR; Linkroum, K K; Abdrabou, W W; Hodges, E E; Braine, C E CE; Pasquale, L R LR; Hannon, G J GJ; Haines, J L JL; John, S W M SW

Publication Date: 2013-08

Variant appearance in text: MYOC: T377M

PubMed Link: 23621901

Variant Present in the following documents:

• Main text

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Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.

Molecular Vision

Young, Thomas K TK; Souzeau, Emmanuelle E; Liu, Lance L; Kearns, Lisa S LS; Burdon, Kathryn P KP; Craig, Jamie E JE; Ruddle, Jonathan B JB

Publication Date: 2012

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 23304066

Variant Present in the following documents:

• Main text

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Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision

Liu, Wenjing W; Liu, Yutao Y; Challa, Pratap P; Herndon, Leon W LW; Wiggs, Janey L JL; Girkin, Christopher A CA; Allingham, R Rand RR; Hauser, Michael A MA

Publication Date: 2012

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 22933836

Variant Present in the following documents:

• Main text
• mv-v18-2241.pdf

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Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.

Molecular Vision

Chen, Li Jia LJ; Ng, Tsz Kin TK; Fan, Alex H AH; Leung, Dexter Y L DY; Zhang, Mingzhi M; Wang, Ningli N; Zheng, Yuqian Y; Liang, Xiao Ying XY; Chiang, Sylvia W Y SW; Tam, Pancy O S PO; Pang, Chi Pui CP

Publication Date: 2012

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 22815630

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Thr377Met

PubMed Link: 22173078

Variant Present in the following documents:

• Main text

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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: Thr377Met

PubMed Link: 21677793

Variant Present in the following documents:

• Main text
• mv-v17-1449.pdf

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Complex genetic mechanisms in glaucoma: an overview.

Indian Journal Of Ophthalmology

Rao, Kollu N KN; Nagireddy, Srujana S; Chakrabarti, Subhabrata S

Publication Date: 2011-01

Variant appearance in text: MYOC: T377M

PubMed Link: 21150032

Variant Present in the following documents:

• Main text
• IJO-59-31.pdf

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Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.

Clinical Ophthalmology (Auckland, N.Z.)

Kitsos, George G; Petrou, Zacharias Z; Grigoriadou, Maria M; Samples, John R JR; Hewitt, Alex W AW; Kokotas, Haris H; Giannoulia-Karantana, Aglaia A; Mackey, David A DA; Wirtz, Mary K MK; Moschou, Marilita M; Ioannidis, John P A JP; Petersen, Michael B MB

Publication Date: 2010-03-24

Variant appearance in text: MYOC: T377M

PubMed Link: 20390039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population.

Investigative Ophthalmology & Visual Science

Wirtz, Mary K MK; Samples, John R JR; Toumanidou, Victoria V; Charlesworth, Jac J; Mikropoulos, Dimitrios G DG; Kaltsos, Konstantinos K; Economou, Athanasios A; Dimopoulos, Antonios A; Georgiadou, Irene N IN; Moumtzis, Georgios G; Papanastasiou, Athanasios A; Kramer, Patricia L PL; Dyer, Tom T; Blangero, John J; Konstas, Anastasios G P AG

Publication Date: 2010-06

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 20107173

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Thr377Met

PubMed Link: 19145250

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: T377M

PubMed Link: 19023451

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Thr377Met

PubMed Link: 18776955

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.

Molecular Vision

Zhuo, Ye-Hong YH; Wei, Yan-Tao YT; Bai, Yu-Jing YJ; Duan, Shan S; Lin, Ming-Kai MK; Saragovi, H Uri HU; Ge, Jian J

Publication Date: 2008-08-22

Variant appearance in text: GLC1A: Thr377Met

PubMed Link: 18728751

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.

Molecular Vision

Wirtz, Mary K MK; Konstas, Anastasios G P AG; Samples, John R JR; Kaltsos, Kostantinos K; Economou, Athanasios A; Dimopoulos, Antonios A; Georgiadou, Irene I; Petersen, Michael B MB

Publication Date: 2008-04-25

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 18449353

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MYOC: Thr377Met

PubMed Link: 17417609

Variant Present in the following documents:

• Main text
• mv-v13-487.pdf

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The role of the Met98Lys optineurin variant in inherited optic nerve diseases.

The British Journal Of Ophthalmology

Craig, J E JE; Hewitt, A W AW; Dimasi, D P DP; Howell, N N; Toomes, C C; Cohn, A C AC; Mackey, D A DA

Publication Date: 2006-11

Variant appearance in text: MYOC: Thr377Met

PubMed Link: 16885188

Variant Present in the following documents:

• Main text

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Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Investigative Ophthalmology & Visual Science

Allingham, R Rand RR; Wiggs, Janey L JL; Hauser, Elizabeth R ER; Larocque-Abramson, Karen R KR; Santiago-Turla, Cecilia C; Broomer, Bob B; Del Bono, Elizabeth A EA; Graham, Felicia L FL; Haines, Jonathan L JL; Pericak-Vance, Margaret A MA; Hauser, Michael A MA

Publication Date: 2005-06

Variant appearance in text: GLC1A: Thr377Met

PubMed Link: 15914615

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Thr377Met

PubMed Link: 11774072

Variant Present in the following documents:

• Main text

View BVdb publication page

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