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: T293K

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: T293K

PubMed Link: 36267417

Variant Present in the following documents:

• Main text
• fgene-13-1019208.pdf
• Table2.xlsx, sheet 1

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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: Thr293Lys

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: T293K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Molecular Vision

Hadrami, Mouna M; Bonnet, Crystel C; Zeitz, Christina C; Veten, Fatimetou F; Biya, Med M; Hamed, Cheikh T CT; Condroyer, Christel C; Wang, Panfeng P; Sidi, Med Mahmoud MM; Cheikh, Sidi S; Zhang, Qingjiong Q; Audo, Isabelle I; Petit, Christine C; Houmeida, Ahmed A

Publication Date: 2019

Variant appearance in text: MYOC: 878C>A; Thr293Lys; rs139122673

PubMed Link: 31367175

Variant Present in the following documents:

• Main text
• mv-v25-373.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: MYOC: T293K

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 62

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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: 878C>A; T293K

PubMed Link: 29600168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: MYOC: 878C>A; Thr293Lys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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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: T293K

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: T293K

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: T293K

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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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: MYOC: T293K

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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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: Thr293Lys

PubMed Link: 23922489

Variant Present in the following documents:

• Main text
• mv-v19-1707.pdf

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Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.

Molecular Vision

Hilal, Latifa L; Boutayeb, Soraya S; Serrou, Aziza A; Refass-Buret, Loubna L; Shisseh, Hafsa H; Bencherifa, Fatiha F; El Mzibri, Mohammed M; Benazzouz, Bouchra B; Berraho, Amina A

Publication Date: 2010-07-02

Variant appearance in text: MYOC: T293K

PubMed Link: 20664688

Variant Present in the following documents:

• Main text
• mv-v16-1215.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: Thr293Lys

PubMed Link: 19145250

Variant Present in the following documents:

• Main text
• mv-v15-89.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: Thr293Lys

PubMed Link: 11774072

Variant Present in the following documents:

• Main text

View BVdb publication page

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