Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: PLG: R261H; rs4252187

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.

Frontiers In Genetics

Mathey, Carina M CM; Maj, Carlo C; Scheer, Annika B AB; Fazaal, Julia J; Wedi, Bettina B; Wieczorek, Dorothea D; Amann, Philipp M PM; Löffler, Harald H; Koch, Lukas L; Schöffl, Clemens C; Dickel, Heinrich H; Ganjuur, Nomun N; Hornung, Thorsten T; Forkel, Susann S; Greve, Jens J; Wurpts, Gerda G; Hallberg, Pär P; Bygum, Anette A; Von Buchwald, Christian C; Karawajczyk, Malgorzata M; Steffens, Michael M; Stingl, Julia J; Hoffmann, Per P; Heilmann-Heimbach, Stefanie S; Mangold, Elisabeth E; Ludwig, Kerstin U KU; Rasmussen, Eva R ER; Wadelius, Mia M; Sachs, Bernhardt B; Nöthen, Markus M MM; Forstner, Andreas J AJ

Publication Date: 2022

Variant appearance in text: PLG: 782G>A; R261H; rs4252187

PubMed Link: 35923707

Variant Present in the following documents:

• Main text
• fgene-13-914376.pdf

View BVdb publication page

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An overview of human proteins and genes involved in SARS-CoV-2 infection.

Gene

Jahanafrooz, Zohreh Z; Chen, Zhishan Z; Bao, Jiandong J; Li, Hongzhi H; Lipworth, Loren L; Guo, Xingyi X

Publication Date: 2022-01-15

Variant appearance in text: rs4252187

PubMed Link: 34530086

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host gene variability and SARS-CoV-2 infection: A review article.

Heliyon

Kaidashev, I I; Shlykova, O O; Izmailova, O O; Torubara, O O; Yushchenko, Ya Y; Tyshkovska, T T; Kyslyi, V V; Belyaeva, A A; Maryniak, D D

Publication Date: 2021-08

Variant appearance in text: PLG: Arg261His

PubMed Link: 34458641

Variant Present in the following documents:

• Main text
• main.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: PLG: Arg261His

PubMed Link: 33590936

Variant Present in the following documents:

• Main text
• CBIN-9999-0.pdf

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: PLG: 782G>A; R261H; rs4252187

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Markers Associated with COVID-19 Susceptibility, Resistance, and Severity.

Viruses

Fakhroo, Aisha D AD; Al Thani, Asmaa A AA; Yassine, Hadi M HM

Publication Date: 2020-12-30

Variant appearance in text: PLG: Arg261His

PubMed Link: 33396584

Variant Present in the following documents:

• Main text
• viruses-13-00045.pdf

View BVdb publication page

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Multi-omic studies on missense PLG variants in families with otitis media.

Scientific Reports

Bootpetch, Tori C TC; Hafrén, Lena L; Elling, Christina L CL; Baschal, Erin E EE; Manichaikul, Ani W AW; Pine, Harold S HS; Szeremeta, Wasyl W; Scholes, Melissa A MA; Cass, Stephen P SP; Larson, Eric D ED; Chan, Kenny H KH; Ishaq, Rafaqat R; Prager, Jeremy D JD; Shaikh, Rehan S RS; Gubbels, Samuel P SP; Yousaf, Ayesha A; , ; Wine, Todd M TM; Bamshad, Michael J MJ; Yoon, Patricia J PJ; Jenkins, Herman A HA; Nickerson, Deborah A DA; Streubel, Sven-Olrik SO; Friedman, Norman R NR; Frank, Daniel N DN; Einarsdottir, Elisabet E; Kere, Juha J; Riazuddin, Saima S; Daly, Kathleen A KA; Leal, Suzanne M SM; Ryan, Allen F AF; Mattila, Petri S PS; Ahmed, Zubair M ZM; Sale, Michele M MM; Chonmaitree, Tasnee T; Santos-Cortez, Regie Lyn P RLP

Publication Date: 2020-09-14

Variant appearance in text: PLG: Arg261His; rs4252187

PubMed Link: 32929111

Variant Present in the following documents:

• Main text
• 41598_2020_Article_70498.pdf
• 41598_2020_70498_MOESM1_ESM.pdf

View BVdb publication page

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Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Klaassen, Kristel K; Stankovic, Biljana B; Zukic, Branka B; Kotur, Nikola N; Gasic, Vladimir V; Pavlovic, Sonja S; Stojiljkovic, Maja M

Publication Date: 2020-10

Variant appearance in text: PLG: Arg261His; rs4252187

PubMed Link: 32771700

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: PLG: R261H

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: PLG: R261H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 11

View BVdb publication page

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The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.

Scientific Reports

Martin-Fernandez, Laura L; Marco, Pascual P; Corrales, Irene I; Pérez, Raquel R; Ramírez, Lorena L; López, Sonia S; Vidal, Francisco F; Soria, José Manuel JM

Publication Date: 2016-12-15

Variant appearance in text: PLG: Arg261His; rs4252187

PubMed Link: 27976734

Variant Present in the following documents:

• Main text
• srep39255.pdf

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: rs4252187

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

G3 (Bethesda, Md.)

Sadovnick, A Dessa AD; Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Ross, Jay P JP; Forwell, Amanda L AL; Yee, Irene M IM; Guillot-Noel, Lena L; Fontaine, Bertrand B; Cournu-Rebeix, Isabelle I; Alcina, Antonio A; Fedetz, Maria M; Izquierdo, Guillermo G; Matesanz, Fuencisla F; Hilven, Kelly K; Dubois, Bénédicte B; Goris, An A; Astobiza, Ianire I; Alloza, Iraide I; Antigüedad, Alfredo A; Vandenbroeck, Koen K; Akkad, Denis A DA; Aktas, Orhan O; Blaschke, Paul P; Buttmann, Mathias M; Chan, Andrew A; Epplen, Joerg T JT; Gerdes, Lisa-Ann LA; Kroner, Antje A; Kubisch, Christian C; Kümpfel, Tania T; Lohse, Peter P; Rieckmann, Peter P; Zettl, Uwe K UK; Zipp, Frauke F; Bertram, Lars L; Lill, Christina M CM; Fernandez, Oscar O; Urbaneja, Patricia P; Leyva, Laura L; Alvarez-Cermeño, Jose Carlos JC; Arroyo, Rafael R; Garagorri, Aroa M AM; García-Martínez, Angel A; Villar, Luisa M LM; Urcelay, Elena E; Malhotra, Sunny S; Montalban, Xavier X; Comabella, Manuel M; Berger, Thomas T; Fazekas, Franz F; Reindl, Markus M; Schmied, Mascha C MC; Zimprich, Alexander A; Vilariño-Güell, Carles C

Publication Date: 2016-07-07

Variant appearance in text: PLG: R261H; rs4252187

PubMed Link: 27194806

Variant Present in the following documents:

• 2073.pdf
• supp_g3.116.030841_TableS5.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: PLG: R261H; rs4252187

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

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: rs4252187

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: PLG: R261H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: PLG: R261H; rs4252187

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 26

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: PLG: R261H; rs4252187

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: PLG: R261H; rs4252187

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 5

View BVdb publication page

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