Publications:

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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: rs17525809

PubMed Link: 37020014

Variant Present in the following documents:

• Main text
• 41598_2023_Article_32365.pdf

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: P2RX7: V76A; rs17525809

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 5
• can-22-2224_table_s8_suppst8.xlsx, sheet 2

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: rs17525809

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: P2RX7: V76A; rs17525809

PubMed Link: 36467077

Variant Present in the following documents:

• Main text
• fphar-13-1033135.pdf

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: rs17525809

PubMed Link: 36075891

Variant Present in the following documents:

• 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: rs17525809

PubMed Link: 35883539

Variant Present in the following documents:

• biomolecules-12-00983.pdf

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: P2RX7: V76A; rs17525809

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

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: rs17525809

PubMed Link: 35743029

Variant Present in the following documents:

• Main text
• ijms-23-06585.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: V76A

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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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: P2RX7: V76A

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.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: V76A; rs17525809

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: V76A; rs17525809

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: rs17525809

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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P2x7 receptors control demyelination and inflammation in the cuprizone model.

Brain, Behavior, & Immunity - Health

Bernal-Chico, Ana A; Manterola, Andrea A; Cipriani, Raffaela R; Katona, István I; Matute, Carlos C; Mato, Susana S

Publication Date: 2020-04

Variant appearance in text: rs17525809

PubMed Link: 34589847

Variant Present in the following documents:

• Main text
• main.pdf

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: 227T>C; Val76Ala; rs17525809

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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Autoinflammatory Features in Gouty Arthritis.

Journal Of Clinical Medicine

Galozzi, Paola P; Bindoli, Sara S; Doria, Andrea A; Oliviero, Francesca F; Sfriso, Paolo P

Publication Date: 2021-04-26

Variant appearance in text: rs17525809

PubMed Link: 33926105

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: rs17525809

PubMed Link: 33889073

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: rs17525809

PubMed Link: 33467215

Variant Present in the following documents:

• Main text
• ijms-22-00878.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: P2X7: Val76Ala; rs17525809

PubMed Link: 32825423

Variant Present in the following documents:

• Main text
• ijms-21-05996.pdf

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: rs17525809

PubMed Link: 32612634

Variant Present in the following documents:

• Main text

View BVdb publication page

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P2X7 in Cancer: From Molecular Mechanisms to Therapeutics.

Frontiers In Pharmacology

Lara, Romain R; Adinolfi, Elena E; Harwood, Catherine A CA; Philpott, Mike M; Barden, Julian A JA; Di Virgilio, Francesco F; McNulty, Shaun S

Publication Date: 2020

Variant appearance in text: P2X7: V76A

PubMed Link: 32581786

Variant Present in the following documents:

• Main text
• fphar-11-00793.pdf

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: P2X7: Val76Ala; rs17525809

PubMed Link: 32471261

Variant Present in the following documents:

• Main text
• ijms-21-03772.pdf

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: P2RX7: V76A; rs17525809

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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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: P2RX7: V76A; rs17525809

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

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: P2RX7: 227T>C

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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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: P2RX7: V76A; rs17525809

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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Development of an AmpliSeqTM Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting Pain.

Frontiers In Pharmacology

Kringel, Dario D; Kaunisto, Mari A MA; Lippmann, Catharina C; Kalso, Eija E; Lötsch, Jörn J

Publication Date: 2018

Variant appearance in text: rs17525809

PubMed Link: 30283335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.

The Open Rheumatology Journal

Zhu, Weifeng W; Deng, Yan Y; Zhou, Xiaodong X

Publication Date: 2018

Variant appearance in text: rs17525809

PubMed Link: 30123371

Variant Present in the following documents:

• Main text
• TORJ-12-94.pdf

View BVdb publication page

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Purinergic Receptors in Neurological Diseases With Motor Symptoms: Targets for Therapy.

Frontiers In Pharmacology

Oliveira-Giacomelli, Ágatha Á; Naaldijk, Yahaira Y; Sardá-Arroyo, Laura L; Gonçalves, Maria C B MCB; Corrêa-Velloso, Juliana J; Pillat, Micheli M MM; de Souza, Héllio D N HDN; Ulrich, Henning H

Publication Date: 2018

Variant appearance in text: rs17525809

PubMed Link: 29692728

Variant Present in the following documents:

• Main text
• fphar-09-00325.pdf

View BVdb publication page

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The P2X7 Receptor in Inflammatory Diseases: Angel or Demon?

Frontiers In Pharmacology

Savio, Luiz E B LEB; de Andrade Mello, Paola P; da Silva, Cleide Gonçalves CG; Coutinho-Silva, Robson R

Publication Date: 2018

Variant appearance in text: rs17525809

PubMed Link: 29467654

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-nucleotide Agonists Triggering P2X7 Receptor Activation and Pore Formation.

Frontiers In Pharmacology

Di Virgilio, Francesco F; Giuliani, Anna L AL; Vultaggio-Poma, Valentina V; Falzoni, Simonetta S; Sarti, Alba C AC

Publication Date: 2018

Variant appearance in text: P2X7: V76A; rs17525809

PubMed Link: 29449813

Variant Present in the following documents:

• Main text
• fphar-09-00039.pdf

View BVdb publication page

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Structural insights into the competitive inhibition of the ATP-gated P2X receptor channel.

Nature Communications

Kasuya, Go G; Yamaura, Toshiaki T; Ma, Xiao-Bo XB; Nakamura, Ryoki R; Takemoto, Mizuki M; Nagumo, Hiromitsu H; Tanaka, Eiichi E; Dohmae, Naoshi N; Nakane, Takanori T; Yu, Ye Y; Ishitani, Ryuichiro R; Matsuzaki, Osamu O; Hattori, Motoyuki M; Nureki, Osamu O

Publication Date: 2017-10-12

Variant appearance in text: P2X7: V76A; rs17525809

PubMed Link: 29026074

Variant Present in the following documents:

• 41467_2017_887_MOESM1_ESM.pdf

View BVdb publication page

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Single nucleotide polymorphisms associated with P2X7R function regulate the onset of gouty arthritis.

Plos One

Tao, Jin-Hui JH; Cheng, Miao M; Tang, Jiang-Ping JP; Dai, Xiao-Juan XJ; Zhang, Yong Y; Li, Xiang-Pei XP; Liu, Qin Q; Wang, Ya-Ling YL

Publication Date: 2017

Variant appearance in text: rs17525809

PubMed Link: 28797095

Variant Present in the following documents:

• Main text
• pone.0181685.pdf

View BVdb publication page

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Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Human Mutation

Sadovnick, A Dessa AD; Gu, Ben J BJ; Traboulsee, Anthony L AL; Bernales, Cecily Q CQ; Encarnacion, Mary M; Yee, Irene M IM; Criscuoli, Maria G MG; Huang, Xin X; Ou, Amber A; Milligan, Carol J CJ; Petrou, Steven S; Wiley, James S JS; Vilariño-Güell, Carles C

Publication Date: 2017-06

Variant appearance in text: P2RX7: 227T>C; rs17525809

PubMed Link: 28326637

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional variant of the P2X7 receptor gene is associated with human papillomavirus-16 positive cervical squamous cell carcinoma.

Oncotarget

Yang, Yuh-Cheng YC; Chang, Tzu-Yang TY; Chen, Tze-Chien TC; Lin, Wen-Shan WS; Chang, Shih-Chuan SC; Lee, Yann-Jinn YJ

Publication Date: 2016-12-13

Variant appearance in text: P2X7: V76A; rs17525809

PubMed Link: 27779103

Variant Present in the following documents:

• Main text
• oncotarget-07-82798.pdf

View BVdb publication page

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Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury.

Purinergic Signalling

Varley, Ian I; Greeves, Julie P JP; Sale, Craig C; Friedman, Eitan E; Moran, Daniel S DS; Yanovich, Ran R; Wilson, Peter J PJ; Gartland, Alison A; Hughes, David C DC; Stellingwerff, Trent T; Ranson, Craig C; Fraser, William D WD; Gallagher, James A JA

Publication Date: 2016-03

Variant appearance in text: P2X7: Val76Ala; rs17525809

PubMed Link: 26825304

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: rs17525809

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Multiplicative interaction of functional inflammasome genetic variants in determining the risk of gout.

Arthritis Research & Therapy

McKinney, Cushla C; Stamp, Lisa K LK; Dalbeth, Nicola N; Topless, Ruth K RK; Day, Richard O RO; Kannangara, Diluk Rw DR; Williams, Kenneth M KM; Janssen, Matthijs M; Jansen, Timothy L TL; Joosten, Leo A LA; Radstake, Timothy R TR; Riches, Philip L PL; Tausche, Anne-Kathrin AK; Lioté, Frederic F; So, Alexander A; Merriman, Tony R TR

Publication Date: 2015-10-13

Variant appearance in text: rs17525809

PubMed Link: 26462562

Variant Present in the following documents:

• Main text

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: P2RX7: V76A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs17525809

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

View BVdb publication page

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Variation in glucose homeostasis traits associated with P2RX7 polymorphisms in mice and humans.

The Journal Of Clinical Endocrinology And Metabolism

Todd, Jennifer N JN; Poon, Wenny W; Lyssenko, Valeriya V; Groop, Leif L; Nichols, Brendan B; Wilmot, Michael M; Robson, Simon S; Enjyoji, Keiichi K; Herman, Mark A MA; Hu, Cheng C; Zhang, Rong R; Jia, Weiping W; Ma, Ronald R; Florez, Jose C JC; Friedman, David J DJ

Publication Date: 2015-05

Variant appearance in text: P2RX7: V76A; rs17525809

PubMed Link: 25719930

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl.

Molecular Pain

Ide, Soichiro S; Nishizawa, Daisuke D; Fukuda, Ken-ichi K; Kasai, Shinya S; Hasegawa, Junko J; Hayashida, Masakazu M; Minami, Masabumi M; Ikeda, Kazutaka K

Publication Date: 2014-12-03

Variant appearance in text: rs17525809

PubMed Link: 25472448

Variant Present in the following documents:

• Main text
• 12990_2014_Article_678.pdf

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: P2RX7: V76A; rs17525809

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: association with diseases, impact on receptor functions and potential use as diagnosis biomarkers.

International Journal Of Molecular Sciences

Caseley, Emily A EA; Muench, Stephen P SP; Roger, Sebastien S; Mao, Hong-Ju HJ; Baldwin, Stephen A SA; Jiang, Lin-Hua LH

Publication Date: 2014-07-30

Variant appearance in text: P2X7: V76A; rs17525809

PubMed Link: 25079442

Variant Present in the following documents:

• Main text
• ijms-15-13344.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: P2RX7: V76A; rs17525809

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjögren's syndrome.

Arthritis Research & Therapy

Lester, Susan S; Stokes, Leanne L; Skarratt, Kristen K KK; Gu, Ben J BJ; Sivils, Kathy L KL; Lessard, Christopher J CJ; Wiley, James S JS; Rischmueller, Maureen M

Publication Date: 2013-06-02

Variant appearance in text: P2RX7: V76A; rs17525809

PubMed Link: 23819992

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into the Molecular Mechanisms Underlying Mammalian P2X7 Receptor Functions and Contributions in Diseases, Revealed by Structural Modeling and Single Nucleotide Polymorphisms.

Frontiers In Pharmacology

Jiang, Lin-Hua LH; Baldwin, Jocelyn M JM; Roger, Sebastien S; Baldwin, Stephen A SA

Publication Date: 2013

Variant appearance in text: P2X7: V76A

PubMed Link: 23675347

Variant Present in the following documents:

• Main text

View BVdb publication page

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The P2X(7) loss-of-function Glu496Ala polymorphism affects ex vivo cytokine release and protects against the cytotoxic effects of high ATP-levels.

Bmc Immunology

Wesselius, Anke A; Bours, Martijn J L MJ; Arts, Ilja C W IC; Theunisz, Esther H E EH; Geusens, Piet P; Dagnelie, Pieter C PC

Publication Date: 2012-12-04

Variant appearance in text: P2X7: Val76Ala

PubMed Link: 23210974

Variant Present in the following documents:

• Main text
• 1471-2172-13-64.pdf

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Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa

Wesselius, A A; Bours, M J L MJ; Henriksen, Z Z; Syberg, S S; Petersen, S S; Schwarz, P P; Jørgensen, N R NR; van Helden, S S; Dagnelie, P C PC

Publication Date: 2013-04

Variant appearance in text: P2RX7: Val76Ala; rs17525809

PubMed Link: 22776862

Variant Present in the following documents:

• Main text

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A common missense variant in the ATP receptor P2X7 is associated with reduced risk of cardiovascular events.

Plos One

Gidlöf, Olof O; Smith, J Gustav JG; Melander, Olle O; Lövkvist, Håkan H; Hedblad, Bo B; Engström, Gunnar G; Nilsson, Peter P; Carlson, Joyce J; Berglund, Göran G; Olsson, Sandra S; Jood, Katarina K; Jern, Christina C; Norrving, Bo B; Lindgren, Arne A; Erlinge, David D

Publication Date: 2012

Variant appearance in text: P2RX7: Val76Ala; rs17525809

PubMed Link: 22662160

Variant Present in the following documents:

• Main text
• pone.0037491.pdf

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