Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.T357S
Back to variants list

P2RX7

NM_002562.6:p.T357S

Associated Papers

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

38664691 (PubMed )
Supplement: 12935_2024_3339_MOESM2_ESM.pdf

Characterization of Common Genetic Variants in P2RX7 and Their Contribution to Chronic Pain Conditions.

Zorina-Lichtenwalter K et al.

The Journal of Pain, 2024

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

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

Wang BJ et al.

Bioscience Reports, 2021

P2X7 Variants in Oncogenesis.

Pegoraro A et al.

Cells, 2021

Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Li Y et al.

Molecular Medicine Reports, 2020

32705272 (PubMed )
Supplement: Supplementary_Data1.xlsx › filter_by_duplicate

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 P2RX7 functional variants with localized aggressive periodontitis.

Harris TH et al.

Journal of Periodontal Research, 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

Association of purinergic receptor P2RX7 gene polymorphisms with depression symptoms.

Vereczkei A et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2019

Altered donor P2X7 activity in human leukocytes correlates with P2RX7 genotype but does not affect the development of graft-versus-host disease in humanised mice.

Adhikary SR et al.

Purinergic Signalling, 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

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

Gu BJ et al.

Human Molecular Genetics, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

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

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

Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women.

Gartland A et al.

European Journal of Human Genetics : Ejhg, 2012

A common missense variant in the ATP receptor P2X7 is associated with reduced risk of cardiovascular events.

Gidlöf O et al.

Plos One, 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

C terminus of the P2X7 receptor: treasure hunting.

Costa-Junior HM et al.

Purinergic Signalling, 2011

The hyposensitive N187D P2X7 mutant promotes malignant progression in nude mice.

Chong JH et al.

The Journal of Biological Chemistry, 2010

Functional significance of P2RX7 polymorphisms associated with affective mood disorders.

Sluyter R et al.

Journal of Psychiatric Research, 2010

Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3.

Verma D et al.

Arthritis and Rheumatism, 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 bipolar and unipolar disorder candidate susceptibility gene?

Green EK et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2009

1–50 of 59 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."