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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.
Findings support an association between childhood DNA methylation (show HELLS Proteins) patterns in PRF1 and a record of severe respiratory syncytial virus bronchiolitis in infancy.
our data provide the first evidence of a strict link between the absence of CD28 (show CD28 Proteins) and the expression of perforin, which is likewise enhanced by the expression of NKG2D (show KLRK1 Proteins), within selected CD4 (show CD4 Proteins)(+) T cells from cervical cancer patients.
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.
Mutation in PRF1 gene is associated with hemophagocytic lymphohistiocytosis.
Increased TIM3 (show HAVCR2 Proteins)+CD8 (show CD8A Proteins)+T cells with lower perforin and granzyme B expression and higher CD95 (show FAS Proteins) expression in MDS (show PAFAH1B1 Proteins) patients were observed.
ITP (show ITPA Proteins) patients displayed an increased frequency of rare missense variations of the PRF1 gene
The decreased expression of perforin in circulating CD3 (show CD3 Proteins)+CD8 (show CD8A Proteins)+ positive T cells is an important biomarker of damaged antitumor immunity in advanced lung cancer.
Letter/Case Report: recurrent episodes of macrophage activation syndrome in peripheral spondyloarthritis with monoallelic missense mutations in PRF1.
PRF delivers granulysin (show GNLY Proteins) and granzymes into parasite infected cells to kill the parasite.
levetiracetam can still protect neurons with perforin knockout mice.
These studies indicate that CD8 (show CD8A Proteins)+ T cells against a single antigen can restrict Y. pseudotuberculosis colonization in a perforin-dependent manner, but ultimately are insufficient in their ability to provide sterilizing immunity and protect against death.
Furthermore, perforin production specifically by CD8 (show CD8A Proteins) T cells was required to cause fatal edema during experimental cerebral malaria.
Our study suggests that perforin plays a role in dopaminergic neuron loss in PD.
IL-18 (show IL18 Proteins)-elicited NK cell perforin responses seem to be critical for coordinating mucosal inflammation during early infection
study shows that perforin is essential to facilitate beta cell destruction in mouse models of type 1 diabetes
Released granzyme B induces DNA fragmentation in intraepithelial lymphocytes independently of Perforin
serglycin (show SRGN Proteins) plays a critical role in the maturation of dense-core cytotoxic granules in cytotoxic lymphocytes and the trafficking and storage of perforin and granzyme B, whereas granzyme A (show GZMA Proteins) is unaffected
This suggests that LPS alters UNK cell migration and activates cytotoxic granule release.
it is proposed that Ca(2 (show CA2 Proteins)+) binding at the weakest affinity site triggers changes in the perforin C2 domain that facilitate its interaction with lipid membranes
It is a cytotoxic genes in the endometrium and hightly expressed in the peri (show PLIN1 Proteins)-implantation endometrium.
The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein.
, lymphocyte pore forming protein
, lymphocyte pore-forming protein
, perforin 1 (pore forming protein)
, pore forming protein
, perforin 1 (pore forming protein) L homeolog
, perforin 1 L homeolog