Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.G150R
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P2RX7

NM_002562.6:p.G150R

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

39957192 (PubMed )
Supplement: sj-pdf-1-pkn-10.1177_1877718x241296015.pdf

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

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

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

Wang BJ et al.

Bioscience Reports, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 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

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

P2X7 polymorphisms and stem cell mobilisation.

Koldej R et al.

Leukemia, 2018

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

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

Non-synonymous polymorphisms in the P2RX ( 4 ) are related to bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.

Wesselius A et al.

Purinergic Signalling, 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

Functional significance of P2RX7 polymorphisms associated with affective mood disorders.

Sluyter R et al.

Journal of Psychiatric Research, 2010

Single nucleotide polymorphisms that were identified in affective mood disorders affect ATP-activated P2X7 receptor functions.

Roger S et al.

Journal of Psychiatric Research, 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

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

Human P2X7 pore function predicts allele linkage disequilibrium.

Denlinger LC et al.

Clinical Chemistry, 2006

Latest Development on Genetics of Common Retinal Diseases.

Chen LJ et al.

Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0

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