Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.A348T
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P2RX7

NM_002562.6:p.A348T

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

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

Genetic polymorphisms linked to extreme postorthodontic external apical root resorption in Koreans.

Liu J et al.

Progress in Orthodontics, 2024

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

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

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

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

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

A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

Vujkovic M et al.

Nature Genetics, 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

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

Jiang LH et al.

Purinergic Signalling, 2021

P2X7 Variants in Oncogenesis.

Pegoraro A et al.

Cells, 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

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

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS28

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 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

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

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

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

Structural insights into the competitive inhibition of the ATP-gated P2X receptor channel.

Kasuya G et al.

Nature Communications, 2017

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

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

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S3

Genetic Association for P2X7R rs3751142 and CARD8 rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study.

Lee SW et al.

Journal of Korean Medical Science, 2016

Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury.

Varley I et al.

Purinergic Signalling, 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

Variation in glucose homeostasis traits associated with P2RX7 polymorphisms in mice and humans.

Todd JN et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Polymorphisms of genes encoding P2X7R, IL-1B, OPG and RANK in orthodontic-induced apical root resorption.

Pereira S et al.

Oral Diseases, 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

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

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

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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."