Publications:

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Variation along P2RX7 interacts with early traumas on severity of anxiety suggesting a role for neuroinflammation.

Scientific Reports

Kristof, Zsuliet Z; Gal, Zsofia Z; Torok, Dora D; Eszlari, Nora N; Sutori, Sara S; Erdelyi-Hamza, Berta B; Petschner, Peter P; Sperlagh, Beata B; Anderson, Ian M IM; Deakin, John Francis William JFW; Bagdy, Gyorgy G; Juhasz, Gabriella G; Gonda, Xenia X

Publication Date: 2023-05-12

Variant appearance in text: rs208294

PubMed Link: 37173368

Variant Present in the following documents:

• Main text
• 41598_2023_Article_34781.pdf

View BVdb publication page

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The functional change of the P2X7R containing the Ala348 to Thr polymorphism is associated with the pathogenesis of gout.

Scientific Reports

Li, Man-Yun MY; Fang, Xuan X; Ma, Yan Y; Pan, Xian-Yang XY; Dai, Xiao-Juan XJ; Li, Xiao-Mei XM; Li, Xiao-Ling XL; Wang, Yi-Ping YP; Tao, Jin-Hui JH; Li, Xiang-Pei XP

Publication Date: 2023-04-05

Variant appearance in text: rs208294

PubMed Link: 37020014

Variant Present in the following documents:

• Main text
• 41598_2023_Article_32365.pdf

View BVdb publication page

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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: P2RX7: Y155H

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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The P2X7 Receptor as a Mechanistic Biomarker for Epilepsy.

International Journal Of Molecular Sciences

Engel, Tobias T

Publication Date: 2023-03-12

Variant appearance in text: rs208294

PubMed Link: 36982485

Variant Present in the following documents:

• Main text
• ijms-24-05410.pdf

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: P2RX7: Y155H; rs208294

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

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: rs208294

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Origin, distribution, and function of three frequent coding polymorphisms in the gene for the human P2X7 ion channel.

Frontiers In Pharmacology

Schäfer, Waldemar W; Stähler, Tobias T; Pinto Espinoza, Carolina C; Danquah, Welbeck W; Knop, Jan Hendrik JH; Rissiek, Björn B; Haag, Friedrich F; Koch-Nolte, Friedrich F

Publication Date: 2022

Variant appearance in text: P2X7: Y155H; rs208294

PubMed Link: 36467077

Variant Present in the following documents:

• Main text
• fphar-13-1033135.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: rs208294

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs208294

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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P2 Receptors: Novel Disease Markers and Metabolic Checkpoints in Immune Cells.

Biomolecules

Vultaggio-Poma, Valentina V; Di Virgilio, Francesco F

Publication Date: 2022-07-14

Variant appearance in text: rs208294

PubMed Link: 35883539

Variant Present in the following documents:

• biomolecules-12-00983.pdf

View BVdb publication page

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Microglial Inflammatory-Metabolic Pathways and Their Potential Therapeutic Implication in Major Depressive Disorder.

Frontiers In Psychiatry

Rahimian, Reza R; Belliveau, Claudia C; Chen, Rebecca R; Mechawar, Naguib N

Publication Date: 2022

Variant appearance in text: rs208294

PubMed Link: 35782423

Variant Present in the following documents:

• Main text
• fpsyt-13-871997.pdf

View BVdb publication page

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Platelets and the Role of P2X Receptors in Nociception, Pain, Neuronal Toxicity and Thromboinflammation.

International Journal Of Molecular Sciences

Rawish, Elias E; Langer, Harald F HF

Publication Date: 2022-06-13

Variant appearance in text: rs208294

PubMed Link: 35743029

Variant Present in the following documents:

• Main text
• ijms-23-06585.pdf

View BVdb publication page

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Genetic and epigenetic mechanisms influencing acute to chronic postsurgical pain transitions in pediatrics: Preclinical to clinical evidence.

Canadian Journal Of Pain = Revue Canadienne De La Douleur

Dourson, Adam J AJ; Willits, Adam A; Raut, Namrata G R NGR; Kader, Leena L; Young, Erin E; Jankowski, Michael P MP; Chidambaran, Vidya V

Publication Date: 2022

Variant appearance in text: rs208294

PubMed Link: 35572362

Variant Present in the following documents:

• Main text
• UCJP_6_2021799.pdf

View BVdb publication page

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The Interleukin-1 (IL-1) Superfamily Cytokines and Their Single Nucleotide Polymorphisms (SNPs).

Journal Of Immunology Research

Behzadi, Payam P; Sameer, Aga Syed AS; Nissar, Saniya S; Banday, Mujeeb Zafar MZ; Gajdács, Márió M; García-Perdomo, Herney Andrés HA; Akhtar, Kulsum K; Pinheiro, Marina M; Magnusson, Peter P; Sarshar, Meysam M; Ambrosi, Cecilia C

Publication Date: 2022

Variant appearance in text: rs208294

PubMed Link: 35378905

Variant Present in the following documents:

• Main text
• JIR2022-2054431.pdf

View BVdb publication page

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Beyond Seizure Control: Treating Comorbidities in Epilepsy via Targeting of the P2X7 Receptor.

International Journal Of Molecular Sciences

Gil, Beatriz B; Smith, Jonathon J; Tang, Yong Y; Illes, Peter P; Engel, Tobias T

Publication Date: 2022-02-21

Variant appearance in text: rs208294

PubMed Link: 35216493

Variant Present in the following documents:

• Main text
• ijms-23-02380.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: P2RX7: Y155H

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Irradiation causes senescence, ATP release, and P2X7 receptor isoform switch in glioblastoma.

Cell Death & Disease

Zanoni, Michele M; Sarti, Alba Clara AC; Zamagni, Alice A; Cortesi, Michela M; Pignatta, Sara S; Arienti, Chiara C; Tebaldi, Michela M; Sarnelli, Anna A; Romeo, Antonino A; Bartolini, Daniela D; Tosatto, Luigino L; Adinolfi, Elena E; Tesei, Anna A; Di Virgilio, Francesco F

Publication Date: 2022-01-24

Variant appearance in text: P2X7: Y155H; rs208294

PubMed Link: 35075119

Variant Present in the following documents:

• Main text
• 41419_2022_Article_4526.pdf

View BVdb publication page

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Irradiation causes senescence, ATP release, and P2X7 receptor isoform switch in glioblastoma.

Cell Death & Disease

Zanoni, Michele M; Sarti, Alba Clara AC; Zamagni, Alice A; Cortesi, Michela M; Pignatta, Sara S; Arienti, Chiara C; Tebaldi, Michela M; Sarnelli, Anna A; Romeo, Antonino A; Bartolini, Daniela D; Tosatto, Luigino L; Adinolfi, Elena E; Tesei, Anna A; Di Virgilio, Francesco F

Publication Date: 2022-01-24

Variant appearance in text: P2X7: Y155H; rs208294

PubMed Link: 35075119

Variant Present in the following documents:

• Main text
• 41419_2022_Article_4526.pdf

View BVdb publication page

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Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J

Publication Date: 2022-02

Variant appearance in text: rs208294

PubMed Link: 34862210

Variant Present in the following documents:

• Main text
• 268527_2_supp_7525223_r2sknd.pdf
• 352.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: P2RX7: Y155H

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Associations Between the Purinergic Receptor P2X7 and Leprosy Disease.

Frontiers In Genetics

Souza, Rebeka da Conceição RDC; Louvain de Souza, Thaís T; Ferreira, Cristina Dos Santos CDS; Nascimento, Letícia Silva LS; Nahn, Edilbert Pellegrini EP; Peixoto-Rangel, Alba Lucínia AL

Publication Date: 2021

Variant appearance in text: rs208294

PubMed Link: 34795692

Variant Present in the following documents:

• Main text
• fgene-12-730991.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: 2021-10-19

Variant appearance in text: P2RX7: Y155H; rs208294

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

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: P2RX7: Y155H; rs208294

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

View BVdb publication page

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: P2RX7: Y155H

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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To inhibit or to boost the ATP/P2RX7 pathway to fight cancer-that is the question.

Purinergic Signalling

Janho Dit Hreich, Serena S; Benzaquen, Jonathan J; Hofman, Paul P; Vouret-Craviari, Valérie V

Publication Date: 2021-08-04

Variant appearance in text: rs208294

PubMed Link: 34347213

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alzheimer and Purinergic Signaling: Just a Matter of Inflammation?

Cells

Merighi, Stefania S; Poloni, Tino Emanuele TE; Terrazzan, Anna A; Moretti, Eva E; Gessi, Stefania S; Ferrari, Davide D

Publication Date: 2021-05-20

Variant appearance in text: rs208294

PubMed Link: 34065393

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: P2RX7: 463T>C; Y155H; rs208294

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: P2RX7: 463T>C; Tyr155His; rs208294

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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P2X7 Receptor-Mediated Inflammation in Cardiovascular Disease.

Frontiers In Pharmacology

Zhou, Junteng J; Zhou, Zhichao Z; Liu, Xiaojing X; Yin, Hai-Yan HY; Tang, Yong Y; Cao, Xin X

Publication Date: 2021

Variant appearance in text: rs208294

PubMed Link: 33995071

Variant Present in the following documents:

• Main text

View BVdb publication page

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P2X7 Receptors in Neurodegeneration: Potential Therapeutic Applications From Basic to Clinical Approaches.

Frontiers In Cellular Neuroscience

Territo, Paul R PR; Zarrinmayeh, Hamideh H

Publication Date: 2021

Variant appearance in text: rs208294

PubMed Link: 33889073

Variant Present in the following documents:

• Main text

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: P2RX7: Y155H; rs208294

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: P2RX7: 463T>C; Y155H; rs208294

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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P2X7 Variants in Oncogenesis.

Cells

Pegoraro, Anna A; De Marchi, Elena E; Adinolfi, Elena E

Publication Date: 2021-01-19

Variant appearance in text: rs208294

PubMed Link: 33477845

Variant Present in the following documents:

• Main text

View BVdb publication page

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Computational Functional Genomics-Based AmpliSeq™ Panel for Next-Generation Sequencing of Key Genes of Pain.

International Journal Of Molecular Sciences

Kringel, Dario D; Malkusch, Sebastian S; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2021-01-16

Variant appearance in text: rs208294

PubMed Link: 33467215

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of Encoding Genes IL1RN and P2RX7 in Apical Root Resorption in Patients after Orthodontic Treatment.

International Journal Of Molecular Sciences

Ciurla, Agata A; Szymańska, Jolanta J; Płachno, Bartosz J BJ; Bogucka-Kocka, Anna A

Publication Date: 2021-01-14

Variant appearance in text: P2RX7: Tyr155His; rs208294

PubMed Link: 33466672

Variant Present in the following documents:

• Main text
• ijms-22-00777.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: P2RX7: 463T>C; Y155H; rs208294

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Immunogenic cell death pathway polymorphisms for predicting oxaliplatin efficacy in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer

Arai, Hiroyuki H; Xiao, Yi Y; Loupakis, Fotios F; Kawanishi, Natsuko N; Wang, Jingyuan J; Battaglin, Francesca F; Soni, Shivani S; Zhang, Wu W; Mancao, Christoph C; Salhia, Bodour B; Mumenthaler, Shannon M SM; Weisenberger, Daniel J DJ; Liang, Gangning G; Cremolini, Chiara C; Falcone, Alfredo A; Millstein, Joshua J; Lenz, Heinz-Josef HJ

Publication Date: 2020-11

Variant appearance in text: rs208294

PubMed Link: 33172883

Variant Present in the following documents:

• Main text

View BVdb publication page

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External apical root resorption in orthodontic patients: molecular and genetic basis.

Journal Of Family Medicine And Primary Care

Kalra, Shilpa S; Gupta, Prateek P; Tripathi, Tulika T; Rai, Priyank P

Publication Date: 2020-08

Variant appearance in text: rs208294

PubMed Link: 33110782

Variant Present in the following documents:

• Main text
• JFMPC-9-3872.pdf

View BVdb publication page

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The P2X7 Receptor: Central Hub of Brain Diseases.

Frontiers In Molecular Neuroscience

Andrejew, Roberta R; Oliveira-Giacomelli, Ágatha Á; Ribeiro, Deidiane Elisa DE; Glaser, Talita T; Arnaud-Sampaio, Vanessa Fernandes VF; Lameu, Claudiana C; Ulrich, Henning H

Publication Date: 2020

Variant appearance in text: rs208294

PubMed Link: 32848594

Variant Present in the following documents:

• Main text
• fnmol-13-00124.pdf

View BVdb publication page

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P2X7 Receptors Amplify CNS Damage in Neurodegenerative Diseases.

International Journal Of Molecular Sciences

Illes, Peter P

Publication Date: 2020-08-20

Variant appearance in text: rs208294

PubMed Link: 32825423

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic Review and Meta-Analysis of Candidate Gene Association Studies With Fracture Risk in Physically Active Participants.

Frontiers In Genetics

Ryan-Moore, Edward E; Mavrommatis, Yiannis Y; Waldron, Mark M

Publication Date: 2020

Variant appearance in text: rs208294

PubMed Link: 32612634

Variant Present in the following documents:

• Main text
• fgene-11-00551.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: P2RX7: Y155H; rs208294

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Association between P2X7 Polymorphisms and Post-Transplant Outcomes in Allogeneic Haematopoietic Stem Cell Transplantation.

International Journal Of Molecular Sciences

Koldej, Rachel M RM; Perera, Travis T; Collins, Jenny J; Ritchie, David S DS

Publication Date: 2020-05-27

Variant appearance in text: rs208294

PubMed Link: 32471261

Variant Present in the following documents:

• Main text
• ijms-21-03772.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs208294

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The P2X7 Receptor 489C>T Gain of Function Polymorphism Favors HHV-6A Infection and Associates With Female Idiopathic Infertility.

Frontiers In Pharmacology

Pegoraro, Anna A; Bortolotti, Daria D; Marci, Roberto R; Caselli, Elisabetta E; Falzoni, Simonetta S; De Marchi, Elena E; Di Virgilio, Francesco F; Rizzo, Roberta R; Adinolfi, Elena E

Publication Date: 2020

Variant appearance in text: rs208294

PubMed Link: 32153407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Hypomorphic P2X7 Receptor Genotype With Age.

Frontiers In Molecular Neuroscience

Sanz, Juana Maria JM; Falzoni, Simonetta S; Morieri, Mario Luca ML; Passaro, Angelina A; Zuliani, Giovanni G; Di Virgilio, Francesco F

Publication Date: 2020

Variant appearance in text: rs208294

PubMed Link: 32116543

Variant Present in the following documents:

• Main text
• fnmol-13-00008.pdf

View BVdb publication page

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