Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.R469G
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P2RX7

NM_002562.6:p.R469G

Associated Papers

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

Association of Hypomorphic P2X7 Receptor Genotype With Age.

Sanz JM et al.

Frontiers in Molecular Neuroscience, 2020

Bipolar disorder and 1513A>C P2RX7 polymorphism frequency.

Gubert C et al.

Neuroscience Letters, 2019

Heterozygosity for the Mood Disorder-Associated Variant Gln460Arg Alters P2X7 Receptor Function and Sleep Quality.

Metzger MW et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

Genetic determinants and postorthodontic external apical root resorption in Czech children.

Borilova Linhartova P et al.

Oral Diseases, 2017

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

Yang YC et al.

Oncotarget, 2016

Co-Expression of Wild-Type P2X7R with Gln460Arg Variant Alters Receptor Function.

Aprile-Garcia F et al.

Plos One, 2016

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

P2RX7 genotype association in severe sepsis identified by a novel Multi-Individual Array for rapid screening and replication of risk SNPs.

Geistlinger J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Role of purinergic receptor polymorphisms in human bone.

Wesselius A et al.

Frontiers in Bioscience (landmark Edition), 2011

Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.

Stokes L et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis.

Jamieson SE et al.

Genes and Immunity, 2010

Genetics of the P2X7 receptor and human disease.

Fuller SJ et al.

Purinergic Signalling, 2009

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

Human P2X7 pore function predicts allele linkage disequilibrium.

Denlinger LC et al.

Clinical Chemistry, 2006

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."