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: G246R

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: G246R

PubMed Link: 34828408

Variant Present in the following documents:

• Main text
• genes-12-01802.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MYOC: 736G>A; G246R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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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: Gly246Arg

PubMed Link: 33214997

Variant Present in the following documents:

• Main text

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: MYOC: 736G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MYOC: 736G>A; G246R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: G246R

PubMed Link: 27092720

Variant Present in the following documents:

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

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: G246R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: MYOC: 736G>A; G246R

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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: G246R

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

View BVdb publication page

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Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation.

International Journal Of Ophthalmology

Li, Chun-Mei CM; Zhang, Yue-Hong YH; Ye, Rong-Hua RH; Yi, Chang-Xian CX; Zhong, Yi-Min YM; Cao, Dan D; Liu, Xing X

Publication Date: 2014

Variant appearance in text: MYOC: G246R

PubMed Link: 24634862

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G246R

PubMed Link: 23517641

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Gly246Arg

PubMed Link: 21677793

Variant Present in the following documents:

• Main text
• mv-v17-1449.pdf

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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: Gly246Arg

PubMed Link: 19784393

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: Gly246Arg

PubMed Link: 18776955

Variant Present in the following documents:

• Main text
• mv-v14-1666.pdf

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Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.

American Journal Of Human Genetics

Copin, Bruno B; Brézin, Antoine P AP; Valtot, Françoise F; Dascotte, Jean-Claude JC; Béchetoille, Alain A; Garchon, Henri-Jean HJ

Publication Date: 2002-06

Variant appearance in text: MYOC: G246R

PubMed Link: 11992263

Variant Present in the following documents:

• Main text

View BVdb publication page

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