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

Journal of immunology (Baltimore, Md. : 1950) - 1 Jul 2005

Cabrini Giulio, Falzoni Simonetta, Forchap Sylvia L, Pellegatti Patrizia, Balboni Alessandra, Agostini Paola, Cuneo Antonio, Castoldi Gianluigi, Baricordi O Roberto, Di Virgilio Francesco

Abstract excerpt

The P2X(7)R is an ATP-gated cation channel expressed in hemopoietic cells that participates in both cell proliferation and apoptosis. Expression and function of the P2X(7)R have been associated with the clinical course of patients affected by chronic lymphocytic leukemia (CLL). Functional variants causing loss-of-function of the P2X(7)R have been identified, namely, polymorphisms 1513A>C (E496A), 1729T>A (I568N),...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphate
Share to Calcium Signaling

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Neoplasm

Share to Leukemia, Lymphocytic, Chronic, B-Cell

Share to Mutagenesis, Site-Directed

Share to Receptors, Purinergic P2

Share to Receptors, Purinergic P2X7

Share to Recombinant Proteins

Source

Identifiers

PMID: 15972634
DOI: 10.4049/jimmunol.175.1.82

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 His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.PMID 15972634Read ↗

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

An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.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 loss-of-function polymorphic mutation in the cytolytic P2X7 receptor gene and chronic lymphocytic leukaemia: a molecular study.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Identification and characterization of a novel variant of the human P2X7 receptor resulting in gain of functionSemantic proximity Read ↗

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

Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia.Semantic proximity Read ↗

P2X7 Receptor in Hematological MalignanciesSemantic proximity Read ↗

R270C polymorphism leads to loss of function of the canine P2X7 receptor.Semantic proximity Read ↗

Glu496Ala polymorphism of human P2X7 receptor does not affect its electrophysiological phenotype.Semantic proximity Read ↗

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