Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
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Human perforin mutations and susceptibility to multiple primary cancersCytotoxic granule secretion by lymphocytes and its link to immune homeostasisDefining the interaction of perforin with calcium and the phospholipid membraneStructural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Antigenic drift of the pandemic 2009 A(H1N1) influenza virus in A ferret model.Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome PatientsPerforin gene mutations in 77 Chinese patients with lymphomas.Perforin deficiency and susceptibility to cancer.Perforin: structure, function, and role in human immunopathology.An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomasThe transcriptional control of the perforin locusDevelopment of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutationsIntravascular large B-cell lymphoma associated with silicone breast implant, HLA-DRB1*11:01, and HLA-DQB1*03:01 manifesting as macrophage activation syndrome and with severe neurological symptoms: a case report.Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.The battlefield of perforin/granzyme cell death pathways.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Inherited defects in lymphocyte cytotoxic activity.The structure and function of mammalian membrane-attack complex/perforin-like proteins.Insights into NK cell biology from human genetics and disease associations.Advances in understanding the pathogenesis of HLH.Granzyme M: behind enemy lines.Cytokines and metabolic factors regulate tumoricidal T-cell function during cancer immunotherapy.The combination of TRPM8 and TRPA1 expression causes an invasive phenotype in lung cancer.Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition.Consensus recommendations for the diagnosis and management of hemophagocytic lymphohistiocytosis associated with malignancies.Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.Malignancy-associated haemophagocytic lymphohistiocytosis in children and adolescents.Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.Perforin and hematological cancer.Perforin proteostasis is regulated through its C2 domain: supra-physiological cell death mediated by T431D-perforin.Familial haemophagocytic lymphohistiocytosis: Australian experience and perspectives.Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individualsInherited defects causing hemophagocytic lymphohistiocytic syndrome
P2860
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P2860
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on June 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@en
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@nl
type
label
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@en
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@nl
prefLabel
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@en
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@nl
P2093
P2860
P356
P1476
Temperature sensitivity of hum ...... nd a predisposition to cancer.
@en
P2093
Ilia Voskoboinik
Jenny Chia
Kim Pin Yeo
Michelle A Dunstone
P2860
P304
P356
10.1073/PNAS.0903815106
P407
P577
2009-06-01T00:00:00Z