Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
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Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosisHemophagocytic lymphohistiocytosis: review of etiologies and managementA novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 functionStructural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Virological and immunological characteristics of fatal virus-associated haemophagocytic syndrome (VAHS).Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3Perforin-mediated target-cell death and immune homeostasis.Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic functionPerforin: structure, function, and role in human immunopathology.Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis.An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomasHypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.Perforin gene mutations in patients with acquired aplastic anemiaReactive hemophagocytic syndrome complicating the treatment of inflammatory bowel disease.Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosisWhole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.Role of perforin-mediated cell apoptosis in murine models of infusion-induced bone marrow failure.Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity.Natural killer cell deficiency.Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.Advances in understanding the pathogenesis of HLH.Familial Hemophagocytic Lymphohistiocytosis with A665G Perforin Gene Mutation: A Case Report.Dengue-associated hemophagocytic lymphohistiocytosis in an adult: A case report and literature review.Finding a Balance between Protection and Pathology: The Dual Role of Perforin in Human Disease.Neonatal liver failure and haemophagocytic lymphohistiocytosis caused by a new perforin mutation.Practical NK cell phenotyping and variability in healthy adults.Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology GroupLate-onset hemophagocytic lymphohistiocytosis with neurological presentation.Human perforin gene variation is geographically distributed.Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
P2860
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P2860
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@ast
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@en
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@nl
type
label
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@ast
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@en
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@nl
prefLabel
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@ast
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@en
Aberrant maturation of mutant ...... hagocytic lymphohistiocytosis.
@nl
P2093
P2860
P356
P1476
Aberrant maturation of mutant ...... phagocytic lymphohistiocytosis
@en
P2093
Alexandra H Filipovich
Janos Sumegi
Robert W Frayer
P2860
P304
P356
10.1172/JCI26217
P407
P577
2005-12-22T00:00:00Z