Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.R270H
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P2RX7

NM_002562.6:p.R270H

Associated Papers

Association of P2X7 polymorphisms on Type 2 diabetes mellitus susceptibility and diabetic complications.

Huang G et al.

Plos One, 2025

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

38664691 (PubMed )
Supplement: 12935_2024_3339_MOESM2_ESM.pdf

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

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

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain.

Naureen Z et al.

Acta Bio-medica : Atenei Parmensis, 2020

Identification of Candidate Genes Associated with Postherpetic Neuralgia Susceptibility.

Xing X et al.

Pain Physician, 2020

Association between P2X7 Polymorphisms and Post-Transplant Outcomes in Allogeneic Haematopoietic Stem Cell Transplantation.

Koldej RM et al.

International Journal of Molecular Sciences, 2020

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

Association between P2X7 Polymorphisms and Susceptibility to Tuberculosis: An Updated Meta-Analysis of Case-Control Studies.

Taheri M et al.

Medicina (kaunas, Lithuania), 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

Genetic variation in P2RX7 and pain tolerance.

Kambur O et al.

Pain, 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

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 2017

Systematic screening of isogenic cancer cells identifies DUSP6 as context-specific synthetic lethal target in melanoma.

Wittig-Blaich S et al.

Oncotarget, 2017

28423600 (PubMed )
Supplement: oncotarget-08-23760-s002.xlsx › Suppl._Table_S2

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

Yang YC et al.

Oncotarget, 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

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

Ide S et al.

Molecular Pain, 2014

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

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

Spildrejorde M et al.

Physiological Genomics, 2014

Gain and loss of function of P2X7 receptors: mechanisms, pharmacology and relevance to diabetic neuropathic pain.

Ursu D et al.

Molecular Pain, 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

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

Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity.

Sorge RE et al.

Nature Medicine, 2012

P2RX7: expression responds to sleep deprivation and associates with rapid cycling in bipolar disorder type 1.

Backlund L et al.

Plos One, 2012

Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.

Barden N et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

Human P2X7 pore function predicts allele linkage disequilibrium.

Denlinger LC et al.

Clinical Chemistry, 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."