Varaico: Literature-Extracted Genetic Variants

Gene:P2RX7
Variant:p.I568N
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P2RX7

NM_002562.6:p.I568N

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

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

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

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

Koldej RM et al.

International Journal of Molecular Sciences, 2020

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

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

Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Sadovnick AD et al.

Human Mutation, 2017

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

Aprile-Garcia F et al.

Plos One, 2016

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

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

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

Backlund L et al.

Plos One, 2012

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

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

Functional variants of the P2RX7 gene, aseptic osteolysis, and revision of the total hip arthroplasty: a preliminary study.

Mrazek F et al.

Human Immunology, 2010

Characterisation of the R276A gain-of-function mutation in the ectodomain of murine P2X7.

Adriouch S et al.

Purinergic Signalling, 2009

No association between hip geometry and four common polymorphisms associated with fracture: the Danish osteoporosis prevention study.

Nissen N et al.

Calcified Tissue International, 2009

Oxygen/glucose deprivation increases the integration of recombinant P2X7 receptors into the plasma membrane of HEK293 cells.

Milius D et al.

Toxicology, 2007

Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders.

Erhardt A et al.

Journal of Affective Disorders, 2007

Single nucleotide polymorphisms in the P2X7 gene are associated to fracture risk and to effect of estrogen treatment.

Ohlendorff SD et al.

Pharmacogenetics and Genomics, 2007

Role of ATP in trauma-associated cytokine release and apoptosis by P2X7 ion channel stimulation.

Schneider EM et al.

Annals of the New York Academy of Sciences, 2006

Molecular properties of P2X receptors.

Roberts JA et al.

Pflugers Archiv : European Journal of Physiology, 2006

A truncated P2X7 receptor variant (P2X7-j) endogenously expressed in cervical cancer cells antagonizes the full-length P2X7 receptor through hetero-oligomerization.

Feng YH et al.

The Journal of Biological Chemistry, 2006

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

A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.

Shemon AN et al.

The Journal of Biological Chemistry, 2006

[Relationship between sepsis and 4G/5G polymorphism within the promoter region of plasminogen activator inhibitor-1 gene].

Zhan ZY et al.

Zhonghua Yi Xue Za Zhi, 2005

A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.

Cabrini G et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

Detection of human P2X7 nucleotide receptor polymorphisms by a novel monocyte pore assay predictive of alterations in lipopolysaccharide-induced cytokine production.

Denlinger LC et al.

Journal of Immunology (baltimore, Md. : 1950), 2005

An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.

Gu BJ et al.

The Journal of Biological Chemistry, 2004

An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor.

Wiley JS et al.

The Journal of Biological Chemistry, 2003

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