Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.H366D
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P2RX7

NM_002562.6:p.H366D

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

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

Wang BJ et al.

Bioscience Reports, 2021

P2X7 Variants in Oncogenesis.

Pegoraro A et al.

Cells, 2021

Association of P2X7R gene with serum lipid profiles in Chinese postmenopausal women with osteoporosis.

Xiao W et al.

Climacteric : the Journal of the International Menopause Society, 2019

A non-synonymous polymorphism in purinergic P2X7 receptor gene confers reduced susceptibility to essential hypertension in Chinese postmenopausal women.

Gong C et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2019

Genetic interaction of purinergic P2X7 receptor and ER-α polymorphisms in susceptibility to osteoporosis in Chinese postmenopausal women.

Wang H et al.

Journal of Bone and Mineral Metabolism, 2018

The presence of the 1068 G>A variant of P2X7 receptors is associated to an increase in IL-1Ra levels, insulin secretion and pancreatic β-cell function but not with glycemic control in type 2 diabetes patients.

Uresti-Rivera EE et al.

Gene, 2018

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to obesity in Chinese postmenopausal women.

Liu X et al.

Menopause (new York, N.y.), 2018

Purinergic P2X7 receptor functional genetic polymorphisms are associated with the susceptibility to osteoporosis in Chinese postmenopausal women.

Xu H et al.

Purinergic Signalling, 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

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

Yang YC et al.

Oncotarget, 2016

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

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 P2X7R gene polymorphisms with systemic lupus erythematosus in a Chinese population.

Chen GM et al.

Mutagenesis, 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

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

P2X7 receptor gene polymorphism analysis in rheumatoid arthritis.

Al-Shukaili A et al.

International Journal of Immunogenetics, 2011

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

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

The His155Tyr (489C>T) single nucleotide polymorphism of P2RX7 gene confers an enhanced function of P2X7 receptor in immune cells from patients with rheumatoid arthritis.

Portales-Cervantes L et al.

Cellular Immunology, 0

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