Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.R276H
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P2RX7

NM_002562.6:p.R276H

Associated Papers

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

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

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

Structural basis for the functional properties of the P2X7 receptor for extracellular ATP.

Jiang LH et al.

Purinergic Signalling, 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

P2X7 polymorphisms and stem cell mobilisation.

Koldej R et al.

Leukemia, 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 receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 2017

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.

Gu BJ et al.

Human Molecular Genetics, 2015

Haplotypes of P2RX7 gene polymorphisms are associated with both cold pain sensitivity and analgesic effect of fentanyl.

Ide S et al.

Molecular Pain, 2014

R270C polymorphism leads to loss of function of the canine P2X7 receptor.

Spildrejorde M et al.

Physiological Genomics, 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

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

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

Role of purinergic receptor polymorphisms in human bone.

Wesselius A et al.

Frontiers in Bioscience (landmark Edition), 2011

Characterisation of the R276A gain-of-function mutation in the ectodomain of murine P2X7.

Adriouch S et al.

Purinergic Signalling, 2009

P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.

Lucae S et al.

Human Molecular Genetics, 2006

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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."