Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis.
International Journal Of Molecular Sciences
Guerini, Franca Rosa FR; Agliardi, Cristina C; Bolognesi, Elisabetta E; Zanzottera, Milena M; Caputo, Domenico D; Pasanisi, Maria Barbara MB; Rovaris, Marco M; Clerici, Mario M
Publication Date: 2022-12-06
Variant appearance in text: P2X7: Arg307Gln; rs28360457
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: R307Q; rs28360457
Identification of Leukocyte Surface P2X7 as a Biomarker Associated with Alzheimer's Disease.
International Journal Of Molecular Sciences
Li, Yihan Y; Huang, Xin X; Fowler, Christopher C; Lim, Yen Y YY; Laws, Simon M SM; Faux, Noel N; Doecke, James D JD; Trounson, Brett B; Pertile, Kelly K; Rumble, Rebecca R; Doré, Vincent V; Villemagne, Victor L VL; Rowe, Christopher C CC; Wiley, James S JS; Maruff, Paul P; Masters, Colin L CL; Gu, Ben J BJ
P2X7 receptor is essential for cross-dressing of bone marrow-derived dendritic cells.
Iscience
Barrera-Avalos, Carlos C; Briceño, Pedro P; Valdés, Daniel D; Imarai, Mónica M; Leiva-Salcedo, Elías E; Rojo, Leonel E LE; Milla, Luis A LA; Huidobro-Toro, Juan Pablo JP; Robles-Planells, Claudia C; Escobar, Alejandro A; Di Virgilio, Francesco F; Morón, Gabriel G; Sauma, Daniela D; Acuña-Castillo, Claudio C
Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.
Frontiers In Oncology
Bao, Chaohui C; An, Na N; Xie, Hong H; Xu, Ling L; Zhou, Boping B; Luo, Jun J; Huang, Wanqiu W; Huang, Jian J
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: P2RX7: R307Q; rs28360457
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
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: P2RX7: R307Q; rs28360457
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: 920G>A; rs28360457
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: P2RX7: R307Q; rs28360457
Co-Expression of Wild-Type P2X7R with Gln460Arg Variant Alters Receptor Function.
Plos One
Aprile-Garcia, Fernando F; Metzger, Michael W MW; Paez-Pereda, Marcelo M; Stadler, Herbert H; Acuña, Matías M; Liberman, Ana C AC; Senin, Sergio A SA; Gerez, Juan J; Hoijman, Esteban E; Refojo, Damian D; Mitkovski, Mišo M; Panhuysen, Markus M; Stühmer, Walter W; Holsboer, Florian F; Deussing, Jan M JM; Arzt, Eduardo E
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: Arg307Gln; rs28360457
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: R307Q; rs28360457
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: P2RX7: R307Q; rs28360457
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: R307Q; rs28360457
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
P2X7-regulated protection from exacerbations and loss of control is independent of asthma maintenance therapy.
American Journal Of Respiratory And Critical Care Medicine
Denlinger, Loren C LC; Manthei, David M DM; Seibold, Max A MA; Ahn, Kwangmi K; Bleecker, Eugene E; Boushey, Homer A HA; Calhoun, William J WJ; Castro, Mario M; Chinchili, Vernon M VM; Fahy, John V JV; Hawkins, Greg A GA; Icitovic, Nicolina N; Israel, Elliot E; Jarjour, Nizar N NN; King, Tonya T; Kraft, Monica M; Lazarus, Stephen C SC; Lehman, Erik E; Martin, Richard J RJ; Meyers, Deborah A DA; Peters, Stephen P SP; Sheerar, Dagna D; Shi, Lei L; Sutherland, E Rand ER; Szefler, Stanley J SJ; Wechsler, Michael E ME; Sorkness, Christine A CA; Lemanske, Robert F RF; ,
P2RX7: expression responds to sleep deprivation and associates with rapid cycling in bipolar disorder type 1.
Plos One
Backlund, Lena L; Lavebratt, Catharina C; Frisén, Louise L; Nikamo, Pernilla P; Hukic Sudic, Dzana D; Träskman-Bendz, Lil L; Landén, Mikael M; Edman, Gunnar G; Vawter, Marquis P MP; Ösby, Urban U; Schalling, Martin M
Publication Date: 2012
Variant appearance in text: P2RX7: Arg307Gln; rs28360457
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: P2X7: Arg307Gln; rs28360457
Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.
European Journal Of Human Genetics : Ejhg
Jørgensen, Niklas R NR; Husted, Lise B LB; Skarratt, Kristen K KK; Stokes, Leanne L; Tofteng, Charlotte L CL; Kvist, Torben T; Jensen, Jens-Erik B JE; Eiken, Pia P; Brixen, Kim K; Fuller, Stephen S; Clifton-Bligh, Rory R; Gartland, Alison A; Schwarz, Peter P; Langdahl, Bente L BL; Wiley, James S JS
Publication Date: 2012-06
Variant appearance in text: P2X7: Arg307Gln; rs28360457
Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women.
European Journal Of Human Genetics : Ejhg
Gartland, Alison A; Skarratt, Kristen K KK; Hocking, Lynne J LJ; Parsons, Claire C; Stokes, Leanne L; Jørgensen, Niklas Rye NR; Fraser, William D WD; Reid, David M DM; Gallagher, James A JA; Wiley, James S JS
Publication Date: 2012-05
Variant appearance in text: P2RX7: R307Q; rs28360457
The role of the P2X₇ receptor in infectious diseases.
Plos Pathogens
Miller, Catherine M CM; Boulter, Nicola R NR; Fuller, Stephen J SJ; Zakrzewski, Alana M AM; Lees, Michael P MP; Saunders, Bernadette M BM; Wiley, James S JS; Smith, Nicholas C NC