Associated Papers
Phenome-wide association study of P2RX7 identifies schizophrenia and mood disorders as primary associated phenotypes.
Zhu L et al.
Journal of Affective Disorders, 2026
P2RX7, an adaptive immune response gene, is associated with Parkinson's disease risk and age at onset.
Shani S et al.
Journal of Parkinson's Disease, 2024
An improved understanding of pediatric chronic nonbacterial osteomyelitis pathophysiology informs current and future treatment.
Roberts E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
P2RX7 plays a critical role in extracellular vesicle-mediated secretion of pathogenic molecules from microglia and astrocytes.
Abdullah M et al.
Journal of Extracellular Biology, 2024
P2X7 Variants in Pathophysiology.
Pegoraro A et al.
International Journal of Molecular Sciences, 2024
Human P2X7 receptor variants Gly150Arg and Arg276His polymorphisms have differential effects on risk association and cellular functions in pancreatic cancer.
Magni L et al.
Cancer Cell International, 2024
P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).
Charras A et al.
Journal of Autoimmunity, 2024
Characterization of Common Genetic Variants in P2RX7 and Their Contribution to Chronic Pain Conditions.
Zorina-Lichtenwalter K et al.
The Journal of Pain, 2024
Evidence of a genetic background predisposing to complex regional pain syndrome type 1.
Shaikh SS et al.
Journal of Medical Genetics, 2024
Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis.
Guerini FR et al.
International Journal of Molecular Sciences, 2022
Origin, distribution, and function of three frequent coding polymorphisms in the gene for the human P2X7 ion channel.
Schäfer W et al.
Frontiers in Pharmacology, 2022
Association of P2X7 receptor genetic polymorphisms and expression with rheumatoid arthritis susceptibility in a sample of the Iranian population: a case-control study.
Bahari G et al.
Clinical Rheumatology, 2021
Advances in understanding the mechanisms of retinal degenerations.
Fletcher EL
Clinical & Experimental Optometry, 2021
Association between P2X7 Polymorphisms and Post-Transplant Outcomes in Allogeneic Haematopoietic Stem Cell Transplantation.
Koldej RM et al.
International Journal of Molecular Sciences, 2020
A P2RX7 single nucleotide polymorphism haplotype promotes exon 7 and 8 skipping and disrupts receptor function.
Skarratt KK et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.
Sadovnick AD et al.
Human Mutation, 2017
Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.
Ying Y et al.
Rheumatology International, 2017
Association Between P2RX7 Gene and Hepatocellular Carcinoma Susceptibility: A Case-Control Study in a Chinese Han Population.
Duan S et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2016
From genetic associations to functional studies in multiple sclerosis.
Bos SD et al.
European Journal of Neurology, 2016
A Highly Conserved Salt Bridge Stabilizes the Kinked Conformation of β2,3-Sheet Essential for Channel Function of P2X4 Receptors.
Zhao WS et al.
The Journal of Biological Chemistry, 2016
Co-Expression of Wild-Type P2X7R with Gln460Arg Variant Alters Receptor Function.
Aprile-Garcia F et al.
Plos One, 2016
A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.
Gu BJ et al.
Human Molecular Genetics, 2015
Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: association with diseases, impact on receptor functions and potential use as diagnosis biomarkers.
Caseley EA et al.
International Journal of Molecular Sciences, 2014
Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjögren's syndrome.
Lester S et al.
Arthritis Research & Therapy, 2013
Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.
Wesselius A et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2013
A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration.
Gu BJ et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Functional polymorphisms in the P2X7 receptor gene are associated with osteoporosis.
Husted LB et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2013
Insights into the Molecular Mechanisms Underlying Mammalian P2X7 Receptor Functions and Contributions in Diseases, Revealed by Structural Modeling and Single Nucleotide Polymorphisms.
Jiang LH et al.
Frontiers in Pharmacology, 2013
Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.
Jørgensen NR et al.
European Journal of Human Genetics : Ejhg, 2012
Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women.
Gartland A et al.
European Journal of Human Genetics : Ejhg, 2012
P2RX7: expression responds to sleep deprivation and associates with rapid cycling in bipolar disorder type 1.
Backlund L et al.
Plos One, 2012
Contribution of the P2X7 1513A/C loss-of-function polymorphism to extrapulmonary tuberculosis susceptibility in Tunisian populations.
Ben-Selma W et al.
Fems Immunology and Medical Microbiology, 2011
Role of purinergic receptor polymorphisms in human bone.
Wesselius A et al.
Frontiers in Bioscience (landmark Edition), 2011
The hyposensitive N187D P2X7 mutant promotes malignant progression in nude mice.
Chong JH et al.
The Journal of Biological Chemistry, 2010
Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.
Sun C et al.
Purinergic Signalling, 2010
Functional variants of the P2RX7 gene, aseptic osteolysis, and revision of the total hip arthroplasty: a preliminary study.
Mrazek F et al.
Human Immunology, 2010
Characterisation of the R276A gain-of-function mutation in the ectodomain of murine P2X7.
Adriouch S et al.
Purinergic Signalling, 2009
Single nucleotide polymorphisms in the P2X7 gene are associated to fracture risk and to effect of estrogen treatment.
Ohlendorff SD et al.
Pharmacogenetics and Genomics, 2007
Functional P2X7 receptor polymorphisms (His155Tyr, Arg307Gln, Glu496Ala) in patients with Crohn's disease.
Haas SL et al.
Scandinavian Journal of Immunology, 2007
Role of ATP in trauma-associated cytokine release and apoptosis by P2X7 ion channel stimulation.
Schneider EM et al.
Annals of the New York Academy of Sciences, 2006
A truncated P2X7 receptor variant (P2X7-j) endogenously expressed in cervical cancer cells antagonizes the full-length P2X7 receptor through hetero-oligomerization.
Feng YH et al.
The Journal of Biological Chemistry, 2006
Human P2X7 pore function predicts allele linkage disequilibrium.
Denlinger LC et al.
Clinical Chemistry, 2006
A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.
Shemon AN et al.
The Journal of Biological Chemistry, 2006
Gene dosage determines the negative effects of polymorphic alleles of the P2X7 receptor on adenosine triphosphate-mediated killing of mycobacteria by human macrophages.
Fernando SL et al.
The Journal of Infectious Diseases, 2005
A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.
Cabrini G et al.
Journal of Immunology (baltimore, Md. : 1950), 2005