Publications:

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8-Oxoguanine DNA Glycosylase 1 Upregulation as a Risk Factor for Obesity and Colorectal Cancer.

International Journal Of Molecular Sciences

Pilo, Jesús J; García-Flores, Libia Alejandra LA; Clemente-Postigo, Mercedes M; Arranz-Salas, Isabel I; Alcaide, Julia J; Ramos-Fernandez, Maria M; Lozano, José J; Boughanem, Hatim H; Kompella, Pallavi P; Macías-González, Manuel M

Publication Date: 2023-03-13

Variant appearance in text: OGG1: R154H

PubMed Link: 36982562

Variant Present in the following documents:

• Main text
• ijms-24-05488.pdf

View BVdb publication page

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Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population.

Journal Of Personalized Medicine

Lin, Min-Rou MR; Chou, Po-Hsin PH; Huang, Kuei-Jung KJ; Ting, Jafit J; Liu, Chia-Ying CY; Chou, Wan-Hsuan WH; Lin, Gan-Hong GH; Chang, Jan-Gowth JG; Ikegawa, Shiro S; Wang, Shih-Tien ST; Chang, Wei-Chiao WC

Publication Date: 2022-12-23

Variant appearance in text: OGG1: 461G>A; Arg154His

PubMed Link: 36675693

Variant Present in the following documents:

• Main text
• jpm-13-00032.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: OGG1: R154H; rs56053615

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: OGG1: R154H

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Molecular dynamics approach to identification of new OGG1 cancer-associated somatic variants with impaired activity.

The Journal Of Biological Chemistry

Popov, Aleksandr V AV; Endutkin, Anton V AV; Yatsenko, Darya D DD; Yudkina, Anna V AV; Barmatov, Alexander E AE; Makasheva, Kristina A KA; Raspopova, Darya Yu DY; Diatlova, Evgeniia A EA; Zharkov, Dmitry O DO

Publication Date: 2021

Variant appearance in text: OGG1: R154H

PubMed Link: 33361155

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Structural and Functional Analysis of human lung cancer risk associated hOGG1 variant Ser326Cys in DNA repair gene by molecular dynamics simulation.

Non-Coding Rna Research

Abduljaleel, Zainularifeen Z

Publication Date: 2019-09

Variant appearance in text: rs56053615

PubMed Link: 31891019

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Thermostability and excision activity of polymorphic forms of hOGG1.

Bmc Research Notes

Mouzakis, Kathryn D KD; Wu, Tiffany T; Haushalter, Karl A KA

Publication Date: 2019-02-18

Variant appearance in text: OGG1: R154H

PubMed Link: 30777129

Variant Present in the following documents:

• Main text
• 13104_2019_Article_4111.pdf

View BVdb publication page

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Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Oncogene

Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN

Publication Date: 2019-03

Variant appearance in text: OGG1: 461G>A; Arg154His; rs56053615

PubMed Link: 30348992

Variant Present in the following documents:

• 41388_2018_536_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: OGG1: 461G>A; R154H; rs56053615

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Polymorphisms of DNA repair genes are associated with colorectal cancer in patients with Lynch syndrome.

Molecular Genetics & Genomic Medicine

Kamiza, Abram B AB; Hsieh, Ling-Ling LL; Tang, Reiping R; Chien, Huei-Tzu HT; Lai, Chih-Hsiung CH; Chiu, Li-Ling LL; Lo, Tsai-Ping TP; Hung, Kuan-Yi KY; You, Jeng-Fu JF; Wang, Wen-Chang WC; Hsiung, Chao A CA; Yeh, Chih-Ching CC

Publication Date: 2018-04-17

Variant appearance in text: OGG1: R154H

PubMed Link: 29664240

Variant Present in the following documents:

• MGG3-6-533.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: OGG1: 461G>A; Arg154His; rs56053615

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 12

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: OGG1: R154H

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 2

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: OGG1: 461G>A; Arg154His; rs56053615

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: OGG1: R154H

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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An active alternative splicing isoform of human mitochondrial 8-oxoguanine DNA glycosylase (OGG1).

Genes And Environment : The Official Journal Of The Japanese Environmental Mutagen Society

Furihata, Chie C

Publication Date: 2015

Variant appearance in text: OGG1: R154H

PubMed Link: 27350816

Variant Present in the following documents:

• 41021_2015_Article_21.pdf

View BVdb publication page

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Association between polymorphisms of APE1 and OGG1 and risk of colorectal cancer in Taiwan.

World Journal Of Gastroenterology

Lai, Ching-Yu CY; Hsieh, Ling-Ling LL; Tang, Reiping R; Santella, Regina M RM; Chang-Chieh, Chung Rong CR; Yeh, Chih-Ching CC

Publication Date: 2016-03-28

Variant appearance in text: OGG1: Arg154His

PubMed Link: 27022219

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: rs56053615

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: OGG1: R154H

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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8-oxoguanine DNA glycosylases: one lesion, three subfamilies.

International Journal Of Molecular Sciences

Faucher, Frédérick F; Doublié, Sylvie S; Jia, Zongchao Z

Publication Date: 2012

Variant appearance in text: OGG1: Arg154His

PubMed Link: 22837659

Variant Present in the following documents:

• Main text
• ijms-13-06711.pdf

View BVdb publication page

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8-oxoguanine DNA glycosylases: one lesion, three subfamilies.

International Journal Of Molecular Sciences

Faucher, Frédérick F; Doublié, Sylvie S; Jia, Zongchao Z

Publication Date: 2012

Variant appearance in text: OGG1: Arg154His

PubMed Link: 22837659

Variant Present in the following documents:

• Main text
• ijms-13-06711.pdf

View BVdb publication page

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Base excision repair and cancer.

Cancer Letters

Wallace, Susan S SS; Murphy, Drew L DL; Sweasy, Joann B JB

Publication Date: 2012-12-31

Variant appearance in text: OGG1: Arg154His

PubMed Link: 22252118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Involvement of oxidatively damaged DNA and repair in cancer development and aging.

American Journal Of Translational Research

Tudek, Barbara B; Winczura, Alicja A; Janik, Justyna J; Siomek, Agnieszka A; Foksinski, Marek M; Oliński, Ryszard R

Publication Date: 2010-05-15

Variant appearance in text: OGG1: Arg154His

PubMed Link: 20589166

Variant Present in the following documents:

• Main text

View BVdb publication page

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The C-terminal lysine of Ogg2 DNA glycosylases is a major molecular determinant for guanine/8-oxoguanine distinction.

Journal Of Molecular Biology

Faucher, Frédérick F; Wallace, Susan S SS; Doublié, Sylvie S

Publication Date: 2010-03-19

Variant appearance in text: OGG1: R154H

PubMed Link: 20083120

Variant Present in the following documents:

• Main text

View BVdb publication page

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Substrate specificity and excision kinetics of natural polymorphic variants and phosphomimetic mutants of human 8-oxoguanine-DNA glycosylase.

The Febs Journal

Sidorenko, Viktoriya S VS; Grollman, Arthur P AP; Jaruga, Pawel P; Dizdaroglu, Miral M; Zharkov, Dmitry O DO

Publication Date: 2009-09

Variant appearance in text: OGG1: R154H

PubMed Link: 19674107

Variant Present in the following documents:

• Main text

View BVdb publication page

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The R46Q, R131Q and R154H polymorphs of human DNA glycosylase/beta-lyase hOgg1 severely distort the active site and DNA recognition site but do not cause unfolding.

Journal Of The American Chemical Society

Anderson, Peter C PC; Daggett, Valerie V

Publication Date: 2009-07-15

Variant appearance in text: OGG1: R154H

PubMed Link: 19537786

Variant Present in the following documents:

• Main text

View BVdb publication page

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MUTYH Associated Polyposis (MAP).

Current Genomics

Poulsen, M L M ML; Bisgaard, M L ML

Publication Date: 2008-09

Variant appearance in text: OGG1: R154H

PubMed Link: 19506731

Variant Present in the following documents:

• CG-9-420.pdf

View BVdb publication page

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Crystal structures of two archaeal 8-oxoguanine DNA glycosylases provide structural insight into guanine/8-oxoguanine distinction.

Structure (London, England : 1993)

Faucher, Frédérick F; Duclos, Stéphanie S; Bandaru, Viswanath V; Wallace, Susan S SS; Doublié, Sylvie S

Publication Date: 2009-05-13

Variant appearance in text: OGG1: Arg154His

PubMed Link: 19446526

Variant Present in the following documents:

• Main text

View BVdb publication page

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Base excision repair, aging and health span.

Mechanisms Of Ageing And Development

Xu, Guogang G; Herzig, Maryanne M; Rotrekl, Vladimir V; Walter, Christi A CA

Publication Date: 2008

Variant appearance in text: OGG1: arg154his

PubMed Link: 18423806

Variant Present in the following documents:

• Main text

View BVdb publication page

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