Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.Q460R
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P2RX7

NM_002562.6:p.Q460R

Associated Papers

Phenome-wide association study of P2RX7 identifies schizophrenia and mood disorders as primary associated phenotypes.

Zhu L et al.

Journal of Affective Disorders, 2026

P2RX7 Dynamics in CNS Disorders: Molecular Insights and Therapeutic Perspectives.

Mithaiwala A et al.

Molecular Neurobiology, 2025

Establishment and behavioural characterization of a novel constitutive P2X7 receptor knockout mouse line.

von Mücke-Heim IA et al.

Purinergic Signalling, 2025

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

Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia.

Naranjo-Galvis CA et al.

Microorganisms, 2023

Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis.

Guerini FR et al.

International Journal of Molecular Sciences, 2022

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

Association of P2X7 receptor genetic polymorphisms and expression with rheumatoid arthritis susceptibility in a sample of the Iranian population: a case-control study.

Bahari G et al.

Clinical Rheumatology, 2021

P2RX7 gene variation mediates the effect of childhood adversity and recent stress on the severity of depressive symptoms.

Kristof Z et al.

Plos One, 2021

Cannabinoids and psychotic symptoms: A potential role for a genetic variant in the P2X purinoceptor 7 (P2RX7) gene.

Boks MP et al.

Brain, Behavior, and Immunity, 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 Hypomorphic P2X7 Receptor Genotype With Age.

Sanz JM et al.

Frontiers in Molecular Neuroscience, 2020

Association of purinergic receptor P2RX7 gene polymorphisms with depression symptoms.

Vereczkei A et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2019

CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA.

Moreno-Mayordomo R et al.

The Journal of Headache and Pain, 2019

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

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P2X7 Interactions and Signaling - Making Head or Tail of It.

Kopp R et al.

Frontiers in Molecular Neuroscience, 2019

P2X7 polymorphisms and stem cell mobilisation.

Koldej R et al.

Leukemia, 2018

The P2RX7 polymorphism rs2230912 is associated with depression: A meta-analysis.

Czamara D et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2018

Combined Proteomic-Molecular Epidemiology Approach to Identify Precision Targets in Brain Cancer.

Mostovenko E et al.

Acs Chemical Neuroscience, 2018

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

Genetically dissecting P2rx7 expression within the central nervous system using conditional humanized mice.

Metzger MW et al.

Purinergic Signalling, 2017

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 2017

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

Borilova Linhartova P et al.

Oral Diseases, 2017

Single nucleotide polymorphisms associated with P2X7R function regulate the onset of gouty arthritis.

Tao JH et al.

Plos One, 2017

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

Aprile-Garcia F et al.

Plos One, 2016

A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics.

Verhoeven WM et al.

American Journal of Medical Genetics. Part A, 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

Genetic variants in the P2RX7 gene are associated with risk of multiple myeloma.

Vangsted AJ et al.

European Journal of Haematology, 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

Lack of association of P2RX7 gene rs2230912 polymorphism with mood disorders: a meta-analysis.

Feng WP et al.

Plos One, 2014

Associations between depression severity and purinergic receptor P2RX7 gene polymorphisms.

Halmai Z et al.

Journal of Affective Disorders, 2013

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

Genetic risk factors for depression in Alzheimer`s disease patients.

Arlt S et al.

Current Alzheimer Research, 2013

The second transmembrane domain of P2X7 contributes to dilated pore formation.

Sun C et al.

Plos One, 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

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

Backlund L et al.

Plos One, 2012

Role of purinergic receptor polymorphisms in human bone.

Wesselius A et al.

Frontiers in Bioscience (landmark Edition), 2011

P2RX7 gene is associated consistently with mood disorders and predicts clinical outcome in three clinical cohorts.

Soronen P et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011

Functional significance of P2RX7 polymorphisms associated with affective mood disorders.

Sluyter R et al.

Journal of Psychiatric Research, 2010

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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."