Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: EXO1: E589K

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Association of Clinical Aspects and Genetic Variants with the Severity of Cisplatin-Induced Ototoxicity in Head and Neck Squamous Cell Carcinoma: A Prospective Cohort Study.

Cancers

Macedo, Ligia Traldi LT; Costa, Ericka Francislaine Dias EFD; Carvalho, Bruna Fernandes BF; Lourenço, Gustavo Jacob GJ; Calonga, Luciane L; Castilho, Arthur Menino AM; Chone, Carlos Takahiro CT; Lima, Carmen Silvia Passos CSP

Publication Date: 2023-03-14

Variant appearance in text: rs1047840

PubMed Link: 36980643

Variant Present in the following documents:

• Main text
• cancers-15-01759.pdf

View BVdb publication page

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: EXO1: E589K

PubMed Link: 36652909

Variant Present in the following documents:

• mmc3.xlsx, sheet 32

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology

Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H

Publication Date: 2022

Variant appearance in text: rs1047840

PubMed Link: 36632296

Variant Present in the following documents:

• rpor-27-6-1045.pdf

View BVdb publication page

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Exonuclease 1 genetic variant is associated with clinical outcomes of pemetrexed chemotherapy in lung adenocarcinoma.

Journal Of Cancer

Hong, Mi Jeong MJ; Park, Ji Eun JE; Lee, Shin Yup SY; Lee, Jang Hyuck JH; Choi, Jin Eun JE; Kang, Hyo-Gyoung HG; Do, Sook Kyung SK; Jeong, Ji Yun JY; Shin, Kyung Min KM; Lee, Won Ki WK; Seok, Yangki Y; Choi, Sun Ha SH; Lee, Yong Hoon YH; Seo, Hyewon H; Yoo, Seung Soo SS; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Park, Jae Yong JY

Publication Date: 2022

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 36606188

Variant Present in the following documents:

• jcav13p3701.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: EXO1: 1765G>A; E589K; rs1047840

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Frontiers In Oncology

Lei, Huimin H; He, Ading A; Jiang, Yingying Y; Ruan, Min M; Han, Nannan N

Publication Date: 2022

Variant appearance in text: rs1047840

PubMed Link: 36338767

Variant Present in the following documents:

• Main text
• fonc-12-1031944.pdf

View BVdb publication page

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Immune infiltration landscape on prognosis and therapeutic response and relevant epigenetic and transcriptomic mechanisms in lung adenocarcinoma.

Frontiers In Immunology

Zhang, Liangming L; Jiang, Biwang B; Lan, Zhuxiang Z; Yang, Chaomian C; Yao, Yien Y; Lin, Jie J; Wei, Qiu Q

Publication Date: 2022

Variant appearance in text: EXO1: Glu589Lys

PubMed Link: 36275753

Variant Present in the following documents:

• Main text
• fimmu-13-983570.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: EXO1: E589K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica

Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F

Publication Date: 2022-10

Variant appearance in text: EXO1: 1765G>A; Glu589Lys; rs1047840

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Oxidative Stress and Deregulated DNA Damage Response Network in Lung Cancer Patients.

Biomedicines

Stefanou, Dimitra T DT; Kouvela, Marousa M; Stellas, Dimitris D; Voutetakis, Konstantinos K; Papadodima, Olga O; Syrigos, Konstantinos K; Souliotis, Vassilis L VL

Publication Date: 2022-05-26

Variant appearance in text: rs1047840

PubMed Link: 35740268

Variant Present in the following documents:

• Main text
• biomedicines-10-01248.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: EXO1: 1765G>A; Glu589Lys

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 8

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: EXO1: E589K

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

The Pharmacogenomics Journal

Uppugunduri, C R S CRS; Huezo-Diaz Curtis, P P; Nava, T T; Rezgui, M A MA; Mlakar, V V; Mlakar, S Jurkovic SJ; Waespe, N N; Théoret, Y Y; Gumy-Pause, F F; Bernard, F F; Chalandon, Y Y; Boelens, J J JJ; Bredius, R G M RGM; Dalle, J H JH; Nath, C C; Corbacioglu, S S; Peters, C C; Bader, P P; Shaw, P P; Bittencourt, H H; Krajinovic, M M; Ansari, M M

Publication Date: 2022-02

Variant appearance in text: rs1047840

PubMed Link: 34711928

Variant Present in the following documents:

• Main text
• 41397_2021_Article_251.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 11

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: EXO1: 1765G>A; Glu589Lys; rs1047840

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: EXO1: Glu589Lys; rs1047840

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Vulnerability to low-dose combination of irinotecan and niraparib in ATM-mutated colorectal cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Vitiello, Pietro Paolo PP; Martini, Giulia G; Mele, Luigi L; Giunta, Emilio Francesco EF; De Falco, Vincenzo V; Ciardiello, Davide D; Belli, Valentina V; Cardone, Claudia C; Matrone, Nunzia N; Poliero, Luca L; Tirino, Virginia V; Napolitano, Stefania S; Della Corte, Carminia C; Selvaggi, Francesco F; Papaccio, Gianpaolo G; Troiani, Teresa T; Morgillo, Floriana F; Desiderio, Vincenzo V; Ciardiello, Fortunato F; Martinelli, Erika E

Publication Date: 2021-01-06

Variant appearance in text: EXO1: E589K

PubMed Link: 33407715

Variant Present in the following documents:

• 13046_2020_1811_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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EXO1 Plays a Carcinogenic Role in Hepatocellular Carcinoma and is related to the regulation of FOXP3.

Journal Of Cancer

Yang, Guang G; Dong, Keshuai K; Zhang, Zunyi Z; Zhang, Erlei E; Liang, Binyong B; Chen, Xiaoping X; Huang, Zhiyong Z

Publication Date: 2020

Variant appearance in text: rs1047840

PubMed Link: 32626539

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.

The Application Of Clinical Genetics

Al-Khatib, Sohaib M SM; Abdo, Nour N; Al-Eitan, Laith N LN; Al-Mistarehi, Abdel-Hameed W AW; Zahran, Deeb Jamil DJ; Al Ajlouni, Marwan M; Kewan, Tariq Zuheir TZ

Publication Date: 2020

Variant appearance in text: rs1047840

PubMed Link: 32606887

Variant Present in the following documents:

• Main text
• tacg-13-115.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: EXO1: E589K

PubMed Link: 32300177

Variant Present in the following documents:

• Main text
• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
• 41388_2020_Article_1280.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: EXO1: E589K

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: EXO1: 1765G>A; Glu589Lys

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 2

View BVdb publication page

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The essentiality landscape of cell cycle related genes in human pluripotent and cancer cells.

Cell Division

Viner-Breuer, Ruth R; Yilmaz, Atilgan A; Benvenisty, Nissim N; Goldberg, Michal M

Publication Date: 2019

Variant appearance in text: EXO1: 1765G>A; E589K

PubMed Link: 31889988

Variant Present in the following documents:

• 13008_2019_58_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mechanisms of Cisplatin-Induced Ototoxicity and Prevention.

Seminars In Hearing

Rybak, Leonard P LP; Mukherjea, Debashree D; Ramkumar, Vickram V

Publication Date: 2019-05

Variant appearance in text: rs1047840

PubMed Link: 31036996

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of Mismatch Repair Pathway Genes Predict Clinical Outcomes in Oral Squamous Cell Carcinoma Patients Receiving Adjuvant Concurrent Chemoradiotherapy.

Cancers

Senghore, Thomas T; Wang, Wen-Chang WC; Chien, Huei-Tzu HT; Chen, You-Xin YX; Young, Chi-Kuang CK; Huang, Shiang-Fu SF; Yeh, Chih-Ching CC

Publication Date: 2019-04-29

Variant appearance in text: rs1047840

PubMed Link: 31035658

Variant Present in the following documents:

• Main text
• cancers-11-00598.pdf

View BVdb publication page

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Breast cancer quantitative proteome and proteogenomic landscape.

Nature Communications

Johansson, Henrik J HJ; Socciarelli, Fabio F; Vacanti, Nathaniel M NM; Haugen, Mads H MH; Zhu, Yafeng Y; Siavelis, Ioannis I; Fernandez-Woodbridge, Alejandro A; Aure, Miriam R MR; Sennblad, Bengt B; Vesterlund, Mattias M; Branca, Rui M RM; Orre, Lukas M LM; Huss, Mikael M; Fredlund, Erik E; Beraki, Elsa E; Garred, Øystein Ø; Boekel, Jorrit J; Sauer, Torill T; Zhao, Wei W; Nord, Silje S; Höglander, Elen K EK; Jans, Daniel C DC; Brismar, Hjalmar H; Haukaas, Tonje H TH; Bathen, Tone F TF; Schlichting, Ellen E; Naume, Bjørn B; , ; Luders, Torben T; Borgen, Elin E; Kristensen, Vessela N VN; Russnes, Hege G HG; Lingjærde, Ole Christian OC; Mills, Gordon B GB; Sahlberg, Kristine K KK; Børresen-Dale, Anne-Lise AL; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: EXO1: 1765G>A; E589K; rs1047840

PubMed Link: 30962452

Variant Present in the following documents:

• 41467_2019_9018_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: EXO1: 1765G>A; rs1047840

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: EXO1: E589K

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Single-nucleotide polymorphism of Exo1 gene is associated with risk of colorectal cancer based on robust Bayesian approach.

Gastroenterology And Hepatology From Bed To Bench

Nasserinejad, Maryam M; Pourhoseingholi, Mohamad Amin MA; Rezasoltani, Sama S; Akbari, Setareh S; Baghestani, Ahmad Reza AR; Shojaee, Sadjad S; Yaghoob-Taleghani, Mohammad M; Nazemalhosseini-Mojarad, Ehsan E

Publication Date: 2018

Variant appearance in text: EXO1: Glu589Lys; rs1047840

PubMed Link: 30774822

Variant Present in the following documents:

• Main text
• GHFBB-11-S146.pdf

View BVdb publication page

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Human Exonuclease 1 (EXO1) Regulatory Functions in DNA Replication with Putative Roles in Cancer.

International Journal Of Molecular Sciences

Keijzers, Guido G; Bakula, Daniela D; Petr, Michael Angelo MA; Madsen, Nils Gedsig Kirkelund NGK; Teklu, Amanuel A; Mkrtchyan, Garik G; Osborne, Brenna B; Scheibye-Knudsen, Morten M

Publication Date: 2018-12-25

Variant appearance in text: EXO1: 1765G>A; E589K; rs1047840

PubMed Link: 30585186

Variant Present in the following documents:

• Main text
• ijms-20-00074.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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EXO1 overexpression is associated with poor prognosis of hepatocellular carcinoma patients.

Cell Cycle (Georgetown, Tex.)

Dai, Yaoyao Y; Tang, Zuxiong Z; Yang, Zongguo Z; Zhang, Lan L; Deng, Qing Q; Zhang, Xiaofeng X; Yu, Yongchun Y; Liu, Xing X; Zhu, Junfeng J

Publication Date: 2018

Variant appearance in text: rs1047840

PubMed Link: 30328366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: EXO1: 1765G>A; Glu589Lys; rs1047840

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in DNA mismatch repair pathway genes predict toxicity and response to cisplatin chemoradiation in head and neck squamous cell carcinoma patients.

Oncotarget

Nogueira, Guilherme Augusto Silva GAS; Costa, Ericka Francislaine Dias EFD; Lopes-Aguiar, Leisa L; Lima, Tathiane Regine Penna TRP; Visacri, Marília Berlofa MB; Pincinato, Eder Carvalho EC; Lourenço, Gustavo Jacob GJ; Calonga, Luciane L; Mariano, Fernanda Viviane FV; Altemani, Albina Messias de Almeida Milani AMAM; Altemani, João Maurício Carrasco JMC; Moriel, Patrícia P; Chone, Carlos Takahiro CT; Ramos, Celso Dario CD; Lima, Carmen Silvia Passos CSP

Publication Date: 2018-07-03

Variant appearance in text: EXO1: 1765G>A; rs1047840

PubMed Link: 30038702

Variant Present in the following documents:

• Main text
• oncotarget-09-29538.pdf

View BVdb publication page

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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics

Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,

Publication Date: 2018-03-06

Variant appearance in text: EXO1: 1765G>A; Glu589Lys; rs1047840

PubMed Link: 29510755

Variant Present in the following documents:

• 12920_2018_338_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Association of DNA repair genes polymorphisms and mutations with increased risk of head and neck cancer: a review.

Medical Oncology (Northwood, London, England)

Dylawerska, Agata A; Barczak, Wojciech W; Wegner, Anna A; Golusinski, Wojciech W; Suchorska, Wiktoria Maria WM

Publication Date: 2017-11-15

Variant appearance in text: EXO1: 1765G>A

PubMed Link: 29143133

Variant Present in the following documents:

• Main text
• 12032_2017_Article_1057.pdf

View BVdb publication page

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Significant association of the EXO1 rs851797 polymorphism with clinical outcome of ovarian cancer.

Oncotargets And Therapy

Shi, Tingyan T; Jiang, Rong R; Wang, Pan P; Xu, Yuan Y; Yin, Sheng S; Cheng, Xi X; Zang, Rongyu R

Publication Date: 2017

Variant appearance in text: EXO1: Glu589Lys; rs1047840

PubMed Link: 29042795

Variant Present in the following documents:

• Main text
• ott-10-4841.pdf

View BVdb publication page

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Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports

Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y

Publication Date: 2017-08-21

Variant appearance in text: EXO1: 1765G>A; Glu589Lys; rs1047840

PubMed Link: 28827732

Variant Present in the following documents:

• 41598_2017_7737_MOESM1_ESM.pdf

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: EXO1: E589K; rs1047840

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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