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

Variations of the perforin gene in patients with type 1 diabetes.

Diabetes - 1 Apr 2008

Orilieri Elisabetta, Cappellano Giuseppe, Clementi Rita, Cometa Angela, Ferretti Massimo, Cerutti Elisa, Cadario Francesco, Martinetti Miryam, Larizza Daniela, Calcaterra Valeria, D'Annunzio Giuseppe, Lorini Renata, Cerutti Franco, Bruno Graziella, Chiocchetti Annalisa, Dianzani Umberto

Abstract excerpt

OBJECTIVE: Perforin plays a key role in cell-mediated cytotoxicity. Mutations of its gene, PRF1, cause familial hemophagocytic lymphohistiocytosis but have also been associated with lymphomas and the autoimmune/lymphoproliferative syndrome. The aim of this work was to investigate the role of PRF1 variations in type 1 diabetes. RESEARCH DESIGN AND METHODS: We typed for the N252S and A91V variations in an initial...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus, Type 1
Share to HLA-DQ alpha-Chains

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HLA-DQ Antigens

Share to HLA-DQ beta-Chains

Share to Perforin

Share to Pore Forming Cytotoxic Proteins

Share to Reference Values

Source

Identifiers

PMID: 18198357
DOI: 10.2337/db07-0947

Genes

PRF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Variations of the perforin gene in patients with type 1 diabetes.PMID 18198357Read ↗

Missense mutations in the perforin (<i>PRF1</i>) gene as a cause of hereditary cancer predispositionSemantic proximity Read ↗

PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.Semantic proximity Read ↗

Human perforin mutations and susceptibility to multiple primary cancersSemantic proximity Read ↗

Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.Semantic proximity Read ↗

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.Semantic proximity Read ↗

A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.Semantic proximity Read ↗

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Variations of the perforin gene in patients with multiple sclerosis.Semantic proximity Read ↗

Functional impact of A91V mutation of the PRF1 perforin gene.Semantic proximity Read ↗

Perforin gene mutations in patients with acquired aplastic anemia.Semantic proximity Read ↗

Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.Semantic proximity Read ↗

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