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results of the study may imply that perforin gene variation has a role in modifying mortality in childhood ALL
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Urothelial bladder cancer may suppress perforin expression in CD8+ T cells by an ICAM-1/TGFbeta2 mediated pathway
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Perforin binds to membranes and undergoes substantial structural re-arrangement to form pores that enable diffusion of granzyme into the target cell [Review].
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findings show that N-linked glycosylation of the perforin C-terminus at Asn549 within the endoplasmic reticulum inhibits oligomerisation of perforin monomers and protects the host cell from premature pore formation; studies reveal a post-translational regulatory mechanism essential for maintaining perforin in an inactive state until its secretion from the inhibitory acidic environment of the secretory granule
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Study focuses on the role of perforin in both protecting and promoting human disease. It concludes with a novel hypothesis that diversity observed in the PRF1 gene may be an example of selective advantage that protects an individual from perforin-mediated pathology, such as blood-brain barrier disruption. [review]
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Our studies suggest that although moderate levels of expression can result in partial amelioration of the hemophagocytic lymphohistiocytosis (HLH)phenotype, high levels of perforin expression per cell are required for complete correction of HLH.
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Findings support an association between childhood DNA methylation patterns in PRF1 and a record of severe respiratory syncytial virus bronchiolitis in infancy.
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our data provide the first evidence of a strict link between the absence of CD28 and the expression of perforin, which is likewise enhanced by the expression of NKG2D, within selected CD4(+) T cells from cervical cancer patients.
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A girl with neurological manifestations of familial hemophagocytic lymphohistiocytosis 2 had reduced perforin 1 expression and was found to be homozygous for a mutation in PRF1 at codon 637 in exon 3 (c.673C>T p.Arg225Trp). Her non-consanguineous parents were both heterozygous carriers of this mutation.
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Mutation in PRF1 gene is associated with hemophagocytic lymphohistiocytosis.
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Increased TIM3+CD8+T cells with lower perforin and granzyme B expression and higher CD95 expression in MDS patients were observed.
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ITP patients displayed an increased frequency of rare missense variations of the PRF1 gene
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The decreased expression of perforin in circulating CD3+CD8+ positive T cells is an important biomarker of damaged antitumor immunity in advanced lung cancer.
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Letter/Case Report: recurrent episodes of macrophage activation syndrome in peripheral spondyloarthritis with monoallelic missense mutations in PRF1.
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A new heterozygous mutation (c.916G>A and c.65delC) was identified as familial hemophagocytic lymphohistiocytosis type 2 causing defect.
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mutations result in severe chronic active Epstein-Barr virus disease
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mutations result in hemophagocytic lymphohistiocytosis
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PRF delivers granulysin and granzymes into parasite infected cells to kill the parasite.
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Among SLAMF4+ cells, the T cell fraction positive for perforin and granzyme B was higher in those obtained from healthy donors compared to SLE patients.
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elevated in the inflammatory lesions of placentas with villitis of unknown etiology