(Q34158330)

English

Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: association with diseases, impact on receptor functions and potential use as diagnosis biomarkers

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Europe PubMed Central

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31 July 2017

8 references

19 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

19 November 2020

24 January 2021

Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: association with diseases, impact on receptor functions and potential use as diagnosis biomarkers (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

1 reference

19 November 2020

cell surface receptor

1 reference

31 July 2019

genetic variation

1 reference

14 September 2019

transport protein

1 reference

28 November 2019

membrane protein

1 reference

15 December 2019

single-nucleotide polymorphism

1 reference

based on heuristic

inferred from title

P2X7 purinoceptor

1 reference

24 January 2021

2

object named as

Stephen P Muench

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Emily A Caseley

object named as

Emily A Caseley

1

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object named as

Lin-Hua Jiang

6

0 references

Stephen A. Baldwin

5

object named as

Stephen A Baldwin

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

Sebastien Roger

3

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Europe PubMed Central

PubMed publication ID

31 July 2017

Hong-Ju Mao

4

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Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

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publication date

30 July 2014

9 references

Europe PubMed Central

PubMed publication ID

31 July 2017

19 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

19 November 2020

24 January 2021

full work available at URL

http://eprints.whiterose.ac.uk/80614/

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White Rose Research Online

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published version

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Creative Commons Attribution 3.0 Unported

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https://doi.org/10.3390/ijms150813344

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Creative Commons Attribution 3.0 Unported

object of statement has role

published version

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International Journal of Molecular Sciences

9 references

Europe PubMed Central

PubMed publication ID

31 July 2017

19 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

19 November 2020

24 January 2021

15

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

13344-13371

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

copyright license

Creative Commons Attribution

8 references

19 June 2019

30 June 2019

31 July 2019

14 September 2019

28 November 2019

15 December 2019

19 November 2020

24 January 2021

copyright status

0 references

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

1 reference

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Inherent dynamics of head domain correlates with ATP-recognition of P2X4 receptors: insights gained from molecular simulations

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5 July 2018

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

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5 July 2018

The effect of P2X7 receptor 1513 polymorphism on susceptibility to tuberculosis: A meta-analysis

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

1 reference

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5 July 2018

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

1 reference

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5 July 2018

Insights into the Molecular Mechanisms Underlying Mammalian P2X7 Receptor Functions and Contributions in Diseases, Revealed by Structural Modeling and Single Nucleotide Polymorphisms

1 reference

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5 July 2018

ATP-gated ion channels mediate adaptation to elevated sound levels.

1 reference

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5 July 2018

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.

1 reference

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5 July 2018

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

1 reference

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P2X receptors as drug targets

1 reference

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5 July 2018

The P2X(7) loss-of-function Glu496Ala polymorphism affects ex vivo cytokine release and protects against the cytotoxic effects of high ATP-levels

1 reference

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5 July 2018

Moving through the gate in ATP-activated P2X receptors.

1 reference

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5 July 2018

Neuromodulation by extracellular ATP and P2X receptors in the CNS.

1 reference

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5 July 2018

ATP activates P2X receptors to mediate gap junctional coupling in the cochlea

1 reference

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5 July 2018

Association between P2X7 Receptor Polymorphisms and Bone Status in Mice

1 reference

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5 July 2018

Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients

1 reference

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5 July 2018

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

1 reference

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5 July 2018

Molecular mechanism of ATP binding and ion channel activation in P2X receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

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

1 reference

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5 July 2018

Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures

1 reference

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5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

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A loss-of-function polymorphism in the human P2X4 receptor is associated with increased pulse pressure.

1 reference

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Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

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P2X(7) is a scavenger receptor for apoptotic cells in the absence of its ligand, extracellular ATP.

1 reference

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Pharmacological properties of the rhesus macaque monkey P2X7 receptor

1 reference

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5 July 2018

Residues 155 and 348 contribute to the determination of P2X7 receptor function via distinct mechanisms revealed by single-nucleotide polymorphisms

1 reference

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5 July 2018

Structural interpretation of P2X receptor mutagenesis studies on drug action

1 reference

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5 July 2018

Pore-opening mechanism in trimeric P2X receptor channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

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ATP-mediated potassium recycling in the cochlear supporting cells

1 reference

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Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosis

1 reference

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P2X7 receptor-mediated killing of an intracellular parasite, Toxoplasma gondii, by human and murine macrophages.

1 reference

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5 July 2018

New structure enlivens interest in P2X receptors.

1 reference

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5 July 2018

P2X7 gene polymorphisms and risk assessment for pulmonary tuberculosis in Asian Indians

1 reference

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Single nucleotide polymorphisms that were identified in affective mood disorders affect ATP-activated P2X7 receptor functions

1 reference

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Polar residues in the second transmembrane domain of the rat P2X2 receptor that affect spontaneous gating, unitary conductance, and rectification

1 reference

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Crystal structure of the ATP-gated P2X(4) ion channel in the closed state

1 reference

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Why prevent, diagnose and treat congenital toxoplasmosis?

1 reference

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Opposite effects of zinc on human and rat P2X2 receptors.

1 reference

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Activation of P2X7 receptors in glial satellite cells reduces pain through downregulation of P2X3 receptors in nociceptive neurons

1 reference

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5 July 2018

Signaling at purinergic P2X receptors

1 reference

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P2X7 receptors on osteoblasts couple to production of lysophosphatidic acid: a signaling axis promoting osteogenesis

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P2X7 receptor as sensitive flow sensor for ERK activation in osteoblasts

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ATP activates P2x receptors and requires extracellular Ca(++) participation to modify outer hair cell nonlinear capacitance

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Whole-genome association study of bipolar disorder

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5 July 2018

Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders

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5 July 2018

P2X7 nucleotide receptors mediate blebbing in osteoblasts through a pathway involving lysophosphatidic acid

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Characterization of a selective and potent antagonist of human P2X(7) receptors, AZ11645373.

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1 reference

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Impaired flow-dependent control of vascular tone and remodeling in P2X4-deficient mice

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The P2X7 nucleotide receptor mediates skeletal mechanotransduction

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

1 reference

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1 reference

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The cytokine IL-1beta transiently enhances P2X7 receptor expression and function in human astrocytes.

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Pharmacological and biophysical properties of the human P2X5 receptor

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Deletion of the P2X7 nucleotide receptor reveals its regulatory roles in bone formation and resorption

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5 July 2018

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

1 reference

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5 July 2018

P2X7 receptor cell surface expression and cytolytic pore formation are regulated by a distal C-terminal region

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5 July 2018

Glu496Ala polymorphism of human P2X7 receptor does not affect its electrophysiological phenotype

1 reference

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5 July 2018

Molecular physiology of P2X receptors

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5 July 2018

Point mutations confer loss of ATP-induced human P2X(7) receptor function

1 reference

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Amino acid residues involved in gating identified in the first membrane-spanning domain of the rat P2X(2) receptor

1 reference

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A Glu-496 to Ala polymorphism leads to loss of function of the human P2X7 receptor

1 reference

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P2X(4) receptors mediate ATP-induced calcium influx in human vascular endothelial cells

1 reference

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Molecular and functional characterization of human P2X(2) receptors.

1 reference

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5 July 2018

Gene structure and chromosomal localization of the human P2X7 receptor

1 reference

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Receptors for purines and pyrimidines

1 reference

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Isoquinolines as antagonists of the P2X7 nucleotide receptor: high selectivity for the human versus rat receptor homologues

1 reference

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5 July 2018

Localization of mRNA encoding the P2X2 receptor subunit of the adenosine 5'-triphosphate-gated ion channel in the adult and developing rat inner ear by in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

P2X2 receptor subunit expression in a subpopulation of cochlear type I spiral ganglion neurones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

Identification of amino acid residues contributing to the pore of a P2X receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

Characterization of recombinant human P2X4 receptor reveals pharmacological differences to the rat homologue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

Cloning and functional expression of a brain G-protein-coupled ATP receptor

1 reference

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5 July 2018

Expression cloning of an ATP receptor from mouse neuroblastoma cells

1 reference

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New structural motif for ligand-gated ion channels defined by an ionotropic ATP receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

A new class of ligand-gated ion channel defined by P2X receptor for extracellular ATP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

Purinergic nerves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

Killing of virulent Mycobacterium tuberculosis by reactive nitrogen intermediates produced by activated murine macrophages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

5 July 2018

P2X receptor-mediated ATP purinergic signaling in health and disease

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Noise induces up-regulation of P2X2 receptor subunit of ATP-gated ion channels in the rat cochlea

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Genetics of age-related macular degeneration.

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

The P2X7 receptor drives microglial activation and proliferation: a trophic role for P2X7R pore

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

The P2X7 receptor gene polymorphism 1513 A→C has no effect on clinical prognostic markers, in vitro sensitivity to fludarabine, Bcl‐2 family protein expression or survival in B‐cell chronic lymphocytic leukaemia

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Association of the 1513C polymorphism in the P2X7 gene with familial forms of chronic lymphocytic leukaemia

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Methylenetetrahydrofolate reductase (MTHFR) gene 677C>T and 1298A>C polymorphisms are associated with differential apoptosis of leukemic B cells in vitro and disease progression in chronic lymphocytic leukemia.

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Case-control studies show that a non-conservative amino-acid change from a glutamine to arginine in the P2RX7 purinergic receptor protein is associated with both bipolar- and unipolar-affective disorders

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Gain-of-function of P2X7 receptor gene variants in multiple sclerosis

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

The His155Tyr (489C>T) single nucleotide polymorphism of P2RX7 gene confers an enhanced function of P2X7 receptor in immune cells from patients with rheumatoid arthritis

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2X7 gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus.

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2X7 and NRAMP1/SLC11 A1 gene polymorphisms in Mexican mestizo patients with pulmonary tuberculosis

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2RX7 genotype association in severe sepsis identified by a novel Multi-Individual Array for rapid screening and replication of risk SNPs

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Prevalence, co-morbidity and correlates of mental disorders in the general population: results from the German Health Interview and Examination Survey (GHS).

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Prevalence and incidence studies of mood disorders: a systematic review of the literature

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach.

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Variation in P2RX7 candidate gene (rs2230912) is not associated with bipolar I disorder and unipolar major depression in four European samples

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

ATP stimulates human macrophages to kill intracellular virulent Mycobacterium tuberculosis via calcium-dependent phagosome-lysosome fusion

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Early and longitudinal evaluations of treated infants and children and untreated historical patients with congenital toxoplasmosis: the Chicago Collaborative Treatment Trial

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Human P2X7 pore function predicts allele linkage disequilibrium.

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2X7 receptor polymorphism impairs extracellular adenosine 5'-triphosphate-induced interleukin-18 release from human monocytes

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Brilliant blue G selectively blocks ATP-gated rat P2X(7) receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

28 October 2018

Expression of the P2X(2) receptor subunit of the ATP-gated ion channel in the cochlea: implications for sound transduction and auditory neurotransmission.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159798

28 October 2018

Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2X7 Receptor Blockade Prevents ATP Excitotoxicity in Oligodendrocytes and Ameliorates Experimental Autoimmune Encephalomyelitis

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

P2X7 polymorphism and chronic lymphocytic leukaemia: lack of correlation with incidence, survival and abnormalities of chromosome 12

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3390%2FIJMS150813344

21 January 2018

ATP-gated ion channel expression in primary auditory neurones

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional polymorphisms in the P2X7 receptor gene are associated with osteoporosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intercellular Calcium Signaling Occurs between Human Osteoblasts and Osteoclasts and Requires Activation of Osteoclast P2X7 Receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of association between polymorphisms in the P2X7gene and tuberculosis in a Chinese Han population

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visualization of flow-induced ATP release and triggering of Ca2+ waves at caveolae in vascular endothelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Consensus development conference: diagnosis, prophylaxis, and treatment of osteoporosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variations in inflammation-related genes may be associated with childhood febrile seizure susceptibility

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The diagnosis of osteoporosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ATP-induced killing of mycobacteria by human macrophages is mediated by purinergic P2Z(P2X7) receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ATP-induced killing of virulent Mycobacterium tuberculosis within human macrophages requires phospholipase D

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A polymorphism in the P2X7 gene increases susceptibility to extrapulmonary tuberculosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The capillary dilator substances in dry powders of spinal roots; a possible role of adenosine triphosphate in chemical transmission from nerve endings

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

P2X7 receptor gene polymorphism analysis in rheumatoid arthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of a polymorphism in the P2X7 gene with tuberculosis in a Gambian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/25079442

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3390/IJMS150813344

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

10.3390/IJMS150813344

0 references

0 references

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

2-s2.0-84905216515

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

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