Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: ERAP2: R751C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Genome-wide association study of SARS-CoV-2 infection in Chinese population.

European Journal Of Clinical Microbiology & Infectious Diseases : Official Publication Of The European Society Of Clinical Microbiology

Fan, Jie J; Long, Quan-Xin QX; Ren, Ji-Hua JH; Chen, Hao H; Li, Meng-Meng MM; Cheng, Zheng Z; Chen, Juan J; Zhou, Li L; Huang, Ai-Long AL

Publication Date: 2022-09

Variant appearance in text: rs150892504

PubMed Link: 35927536

Variant Present in the following documents:

• Main text
• 10096_2022_Article_4478.pdf

View BVdb publication page

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Role of genetic variants and host polymorphisms on COVID-19: From viral entrance mechanisms to immunological reactions.

Journal Of Medical Virology

Adli, Abolfazl A; Rahimi, Mandana M; Khodaie, Reza R; Hashemzaei, Niloofar N; Hosseini, Sayed M SM

Publication Date: 2022-05

Variant appearance in text: rs150892504

PubMed Link: 35076118

Variant Present in the following documents:

• Main text
• JMV-94-1846.pdf

View BVdb publication page

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ERAP2 Is Associated With Immune Infiltration and Predicts Favorable Prognosis in SqCLC.

Frontiers In Immunology

Yang, Zhenlin Z; Tian, He H; Bie, Fenglong F; Xu, Jiachen J; Zhou, Zheng Z; Yang, Junhui J; Li, Renda R; Peng, Yue Y; Bai, Guangyu G; Tian, Yanhua Y; Chen, Ying Y; Liu, Lei L; Fan, Tao T; Xiao, Chu C; Zheng, Yujia Y; Zheng, Bo B; Wang, Jie J; Li, Chunxiang C; Gao, Shugeng S; He, Jie J

Publication Date: 2021

Variant appearance in text: rs150892504

PubMed Link: 34992605

Variant Present in the following documents:

• Main text
• fimmu-12-788985.pdf

View BVdb publication page

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Genetic Risk Factors for the Development of COVID-19 Coronavirus Infection.

Russian Journal Of Genetics

Glotov, O S OS; Chernov, A N AN; Scherbak, S G SG; Baranov, V S VS

Publication Date: 2021

Variant appearance in text: ERAP2: Arg751Cys; rs150892504

PubMed Link: 34483599

Variant Present in the following documents:

• Main text
• 11177_2021_Article_1482.pdf

View BVdb publication page

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Update on human genetic susceptibility to COVID-19: susceptibility to virus and response.

Human Genomics

Colona, Vito Luigi VL; Vasiliou, Vasilis V; Watt, Jessica J; Novelli, Giuseppe G; Reichardt, Juergen K V JKV

Publication Date: 2021-08-25

Variant appearance in text: rs150892504

PubMed Link: 34429158

Variant Present in the following documents:

• Main text
• 40246_2021_Article_356.pdf

View BVdb publication page

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Antigen presentation in SARS-CoV-2 infection: the role of class I HLA and ERAP polymorphisms.

Human Immunology

Saulle, Irma I; Vicentini, Chiara C; Clerici, Mario M; Biasin, Mara M

Publication Date: 2021-08

Variant appearance in text: rs150892504

PubMed Link: 34116863

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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COVID-19 one year into the pandemic: from genetics and genomics to therapy, vaccination, and policy.

Human Genomics

Novelli, Giuseppe G; Biancolella, Michela M; Mehrian-Shai, Ruty R; Colona, Vito Luigi VL; Brito, Anderson F AF; Grubaugh, Nathan D ND; Vasiliou, Vasilis V; Luzzatto, Lucio L; Reichardt, Juergen K V JKV

Publication Date: 2021-05-10

Variant appearance in text: rs150892504

PubMed Link: 33966626

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunogenetic Predictors of Severe COVID-19.

Vaccines

Malkova, Anna A; Kudlay, Dmitriy D; Kudryavtsev, Igor I; Starshinova, Anna A; Yablonskiy, Piotr P; Shoenfeld, Yehuda Y

Publication Date: 2021-03-03

Variant appearance in text: rs150892504

PubMed Link: 33802310

Variant Present in the following documents:

• Main text
• vaccines-09-00211.pdf

View BVdb publication page

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Genetic and epigenetic factors associated with increased severity of Covid-19.

Cell Biology International

Yildirim, Zafer Z; Sahin, Oyku Semahat OS; Yazar, Seyhan S; Bozok Cetintas, Vildan V

Publication Date: 2021-06

Variant appearance in text: rs150892504

PubMed Link: 33590936

Variant Present in the following documents:

• Main text
• CBIN-9999-0.pdf

View BVdb publication page

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Evolutionary medical insights into the SARS-CoV-2 pandemic.

Evolution, Medicine, And Public Health

Crespi, Bernard B

Publication Date: 2020

Variant appearance in text: rs150892504

PubMed Link: 33335737

Variant Present in the following documents:

• Main text
• eoaa036.pdf

View BVdb publication page

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Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Cell Reports

Xie, Shaozhen S; Ni, Jing J; McFaline-Figueroa, J Ricardo JR; Wang, Yanzhi Y; Bronson, Roderick T RT; Ligon, Keith L KL; Wen, Patrick Y PY; Roberts, Thomas M TM; Zhao, Jean J JJ

Publication Date: 2020-09-29

Variant appearance in text: ERAP2: R751C

PubMed Link: 32997991

Variant Present in the following documents:

• NIHMS1633676-supplement-2.xlsx, sheet 1

View BVdb publication page

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The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Virus Research

Elhabyan, Abdelazeem A; Elyaacoub, Saja S; Sanad, Ehab E; Abukhadra, Abdelwahab A; Elhabyan, Asmaa A; Dinu, Valentin V

Publication Date: 2020-11

Variant appearance in text: rs150892504

PubMed Link: 32918943

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A New ERAP2/Iso3 Isoform Expression Is Triggered by Different Microbial Stimuli in Human Cells. Could It Play a Role in the Modulation of SARS-CoV-2 Infection?

Cells

Saulle, Irma I; Vanetti, Claudia C; Goglia, Sara S; Vicentini, Chiara C; Tombetti, Enrico E; Garziano, Micaela M; Clerici, Mario M; Biasin, Mara M

Publication Date: 2020-08-24

Variant appearance in text: rs150892504

PubMed Link: 32847031

Variant Present in the following documents:

• Main text
• cells-09-01951.pdf

View BVdb publication page

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Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: ERAP2: R751C; rs150892504

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, sheet 1

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: ERAP2: 2251C>T; rs150892504

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.

Nature Communications

Momozawa, Yukihide Y; Dmitrieva, Julia J; Théâtre, Emilie E; Deffontaine, Valérie V; Rahmouni, Souad S; Charloteaux, Benoît B; Crins, François F; Docampo, Elisa E; Elansary, Mahmoud M; Gori, Ann-Stephan AS; Lecut, Christelle C; Mariman, Rob R; Mni, Myriam M; Oury, Cécile C; Altukhov, Ilya I; Alexeev, Dmitry D; Aulchenko, Yuri Y; Amininejad, Leila L; Bouma, Gerd G; Hoentjen, Frank F; Löwenberg, Mark M; Oldenburg, Bas B; Pierik, Marieke J MJ; Vander Meulen-de Jong, Andrea E AE; Janneke van der Woude, C C; Visschedijk, Marijn C MC; , ; Lathrop, Mark M; Hugot, Jean-Pierre JP; Weersma, Rinse K RK; De Vos, Martine M; Franchimont, Denis D; Vermeire, Severine S; Kubo, Michiaki M; Louis, Edouard E; Georges, Michel M

Publication Date: 2018-06-21

Variant appearance in text: ERAP2: Arg751Cys; rs150892504

PubMed Link: 29930244

Variant Present in the following documents:

• 41467_2018_4365_MOESM8_ESM.xlsx, sheet 1

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: ERAP2: 2251C>T; Arg751Cys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: ERAP2: 2251C>T; R751C; rs150892504

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: ERAP2: R751C

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: ERAP2: R751C; rs150892504

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ERAP2: R751C

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ERAP2: R751C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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