P2RX7 c.809G>A ;(p.R270H)

Variant ID: 12-121605355-G-A

NM_002562.5(P2RX7):c.809G>A;(p.R270H)

This variant was identified in 97 publications

View GRCh38 version.




Publications:


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: R270H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: P2RX7: R270H; rs7958311
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



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: rs7958311
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 36467077
Variant Present in the following documents:
  • Main text
  • fphar-13-1033135.pdf
View BVdb publication page



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: P2RX7: 809G>A; R270H
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Emerging roles of the P2X7 receptor in cancer pain.

Purinergic Signalling
Wu, Ping P; Wang, Yin Y; Liu, Yansong Y; Liu, Yan Y; Zhou, Guohua G; Wu, Xiaoqi X; Wen, Qingping Q
Publication Date: 2022-11-19

Variant appearance in text: rs7958311
PubMed Link: 36400869
Variant Present in the following documents:
  • Main text
  • 11302_2022_Article_9902.pdf
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: P2RX7: R270H; rs7958311
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



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: rs7958311
PubMed Link: 35572362
Variant Present in the following documents:
  • Main text
  • UCJP_6_2021799.pdf
View BVdb publication page



Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight
Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F
Publication Date: 2022-06-08

Variant appearance in text: P2RX7: 809G>A; Arg270His; rs7958311
PubMed Link: 35511434
Variant Present in the following documents:
  • jciinsight-7-155804-s149.xlsx, sheet 1
View BVdb publication page



The Role of Purinergic P2X7 Receptor in Inflammation and Cancer: Novel Molecular Insights and Clinical Applications.

Cancers
Rotondo, John Charles JC; Mazziotta, Chiara C; Lanzillotti, Carmen C; Stefani, Chiara C; Badiale, Giada G; Campione, Giulia G; Martini, Fernanda F; Tognon, Mauro M
Publication Date: 2022-02-22

Variant appearance in text: P2X7: R270H; rs7958311
PubMed Link: 35267424
Variant Present in the following documents:
  • cancers-14-01116.pdf
View BVdb publication page



A Possible Causal Involvement of Neuroinflammatory, Purinergic P2X7 Receptors in Psychiatric Disorders.

Current Neuropharmacology
Zhang, Ying Y; Yin, Hai-Yan HY; Rubini, Patrizia P; Tang, Yong Y; Illes, Peter P
Publication Date: 2022

Variant appearance in text: P2RX7: R270H; rs7958311
PubMed Link: 35236262
Variant Present in the following documents:
  • Main text
  • CN-20-2142.pdf
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 35075119
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_4526.pdf
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 35075119
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_4526.pdf
View BVdb publication page



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: rs7958311
PubMed Link: 34862210
Variant Present in the following documents:
  • Main text
  • 268527_2_supp_7525223_r2sknd.pdf
  • 352.pdf
View BVdb publication page



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: rs7958311
PubMed Link: 34795692
Variant Present in the following documents:
  • Main text
  • fgene-12-730991.pdf
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Monocyte-derived and M1 macrophages from ankylosing spondylitis patients released higher TNF-α and expressed more IL1B in response to BzATP than macrophages from healthy subjects.

Scientific Reports
Akhtari, Maryam M; Zargar, Seyed Jalal SJ; Vojdanian, Mahdi M; Jamshidi, Ahmadreza A; Mahmoudi, Mahdi M
Publication Date: 2021-09-08

Variant appearance in text: rs7958311
PubMed Link: 34497300
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_96262.pdf
View BVdb publication page



P2X Receptors: Potential Therapeutic Targets for Symptoms Associated With Lung Cancer - A Mini Review.

Frontiers In Oncology
Mai, Yonglin Y; Guo, Zhihua Z; Yin, Weiqiang W; Zhong, Nanshan N; Dicpinigaitis, Peter V PV; Chen, Ruchong R
Publication Date: 2021

Variant appearance in text: rs7958311
PubMed Link: 34268121
Variant Present in the following documents:
  • Main text
  • fonc-11-691956.pdf
View BVdb publication page



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: 809G>A; R270H; rs7958311
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Synonymous mutations that regulate translation speed might play a non-negligible role in liver cancer development.

Bmc Cancer
Li, Qun Q; Li, Jian J; Yu, Chun-Peng CP; Chang, Shuai S; Xie, Ling-Ling LL; Wang, Song S
Publication Date: 2021-04-09

Variant appearance in text: rs7958311
PubMed Link: 33836673
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8131.pdf
View BVdb publication page



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: Arg270His; rs7958311
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Predicted the P2RX7 rs3751143 polymorphism is associated with cancer risk: a meta-analysis and systematic review.

Bioscience Reports
Wang, Bi-Jun BJ; Chen, Jun-Yi JY; Guan, Yu Y; Liu, Da-Chao DC; Cao, Zi-Chuan ZC; Kong, Jin J; Wu, Zheng-Sheng ZS; Wu, Wen-Yong WY
Publication Date: 2021-02-26

Variant appearance in text: P2X7: Arg270His; rs7958311
PubMed Link: 33501930
Variant Present in the following documents:
  • Main text
View BVdb publication page



P2X7 Variants in Oncogenesis.

Cells
Pegoraro, Anna A; De Marchi, Elena E; Adinolfi, Elena E
Publication Date: 2021-01-19

Variant appearance in text: rs7958311
PubMed Link: 33477845
Variant Present in the following documents:
  • Main text
  • cells-10-00189.pdf
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: P2RX7: 809G>A; R270H; rs7958311
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Lorusso, Lorenzo L; Manganotti, Paolo P; Caruso, Paola P; Mazzon, Giulia G; Cecchin, Stefano S; Marceddu, Giuseppe G; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: P2RX7: Arg270His; rs7958311
PubMed Link: 33170156
Variant Present in the following documents:
  • Main text
  • ACTA-91-10.pdf
View BVdb publication page



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: rs7958311
PubMed Link: 32848594
Variant Present in the following documents:
  • Main text
  • fnmol-13-00124.pdf
View BVdb publication page



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: Arg270His; rs7958311
PubMed Link: 32825423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Where there's smoke, there's fire: Cannabis, P2RX7 and inflammatory pathways intersect to increase psychosis susceptibility.

Brain, Behavior, And Immunity
Goldsmith, David R DR
Publication Date: 2020-10

Variant appearance in text: rs7958311
PubMed Link: 32629043
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs7958311
PubMed Link: 32612634
Variant Present in the following documents:
  • Main text
  • fgene-11-00551.pdf
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



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: Arg270His; rs7958311
PubMed Link: 32471261
Variant Present in the following documents:
  • Main text
  • ijms-21-03772.pdf
View BVdb publication page



Single nucleotide polymorphisms associated with postoperative inadequate analgesia after single-port VATS in Chinese population.

Bmc Anesthesiology
Xing, Xiufang X; Bai, Yongyu Y; Sun, Kai K; Yan, Min M
Publication Date: 2020-02-05

Variant appearance in text: rs7958311
PubMed Link: 32024468
Variant Present in the following documents:
  • Main text
  • 12871_2020_Article_949.pdf
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pleiotropic Roles of P2X7 in the Central Nervous System.

Frontiers In Cellular Neuroscience
Kanellopoulos, Jean M JM; Delarasse, Cécile C
Publication Date: 2019

Variant appearance in text: P2X7: R270H
PubMed Link: 31551714
Variant Present in the following documents:
  • Main text
  • fncel-13-00401.pdf
View BVdb publication page



The Research Progress of Host Genes and Tuberculosis Susceptibility.

Oxidative Medicine And Cellular Longevity
Cai, Li L; Li, Zhan Z; Guan, Xuhua X; Cai, Kun K; Wang, Lei L; Liu, Jiafa J; Tong, Yeqing Y
Publication Date: 2019

Variant appearance in text: rs7958311
PubMed Link: 31485302
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between P2X7 Polymorphisms and Susceptibility to Tuberculosis: An Updated Meta-Analysis of Case-Control Studies.

Medicina (Kaunas, Lithuania)
Taheri, Mohsen M; Sarani, Hosna H; Moazeni-Roodi, Abdolkarim A; Naderi, Mohammad M; Hashemi, Mohammad M
Publication Date: 2019-06-21

Variant appearance in text: P2X7: Arg270His; rs7958311
PubMed Link: 31234470
Variant Present in the following documents:
  • Main text
  • medicina-55-00298.pdf
View BVdb publication page



Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain.

The Journal Of Pain
Chidambaran, Vidya V; Gang, Yang Y; Pilipenko, Valentina V; Ashton, Maria M; Ding, Lili L
Publication Date: 2020

Variant appearance in text: P2RX7: R270H; rs7958311
PubMed Link: 31129315
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



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: rs7958311
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
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



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: P2RX7: R270H; rs7958311
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R270H; rs7958311
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: P2RX7: 809G>A; Arg270His; rs7958311
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



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: rs7958311
PubMed Link: 30283335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports
Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL
Publication Date: 2018-08-21

Variant appearance in text: P2RX7: R270H; rs7958311
PubMed Link: 30134176
Variant Present in the following documents:
  • NIHMS1520774-supplement-Table_S2.xlsx, sheet 1
View BVdb publication page



New Insights Into Permeation of Large Cations Through ATP-Gated P2X Receptors.

Frontiers In Molecular Neuroscience
Peverini, Laurie L; Beudez, Juline J; Dunning, Kate K; Chataigneau, Thierry T; Grutter, Thomas T
Publication Date: 2018

Variant appearance in text: P2X7: R270H
PubMed Link: 30108481
Variant Present in the following documents:
  • fnmol-11-00265.pdf
View BVdb publication page