Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.

FEBS letters - 9 May 2005

Skarratt Kristen K, Fuller Stephen J, Sluyter Ronald, Dao-Ung Lan-Phuong, Gu Ben J, Wiley James S

Abstract excerpt

The P2X(7) gene is important for the innate immune response but known polymorphisms do not explain all subjects with loss of P2X(7) function. A splice site mutation (g-->t) was found at position +1 of the first intron of the P2X(7) gene in 7 of 336 Caucasians and 1 of 39 subjects of Indian ethnicity. All eight subjects were heterozygous for the uncommon 1513A-->C polymorphism of the P2X(7) gene. RT-PCR and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to India
Share to Introns
Share to Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptors, Purinergic P2

Share to Receptors, Purinergic P2X7

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA Splice Sites

Share to White People

Source

Identifiers

PMID: 15862308
DOI: 10.1016/j.febslet.2005.03.091

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.PMID 15862308Read ↗

Significance of P2X7 receptor variants to human health and disease.Semantic proximity Read ↗

A Glu-496 to Ala Polymorphism Leads to Loss of Function of the Human P2X7 ReceptorSemantic proximity Read ↗

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.Semantic proximity Read ↗

A P2RX7 single nucleotide polymorphism haplotype promotes exon 7 and 8 skipping and disrupts receptor function.Semantic proximity Read ↗

P2X7 Variants in PathophysiologySemantic proximity Read ↗

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

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

Frequency of P2RX7 A1513C and TLR2 -196 to -174 ins/del in healthy Polish individuals.Semantic proximity Read ↗

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

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

Response heterogeneity of human macrophages to ATP is associated with P2X7 receptor expression but not to polymorphisms in the P2RX7 promoter.Semantic proximity Read ↗

Identification and characterization of splice variants of the human P2X7 ATP channel.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.