Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
about
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cellsFamilial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratodermaUNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosisCargos and genes: insights into vesicular transport from inherited human diseaseNovel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosisDefective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patientsHemophagocytic Lymphohistiocytosis in Children: Pathogenesis and TreatmentCytotoxic granule secretion by lymphocytes and its link to immune homeostasisLysosome-Related Effector Vesicles in T Lymphocytes and NK CellsClinical characteristics and treatment outcomes of autoimmune-associated hemophagocytic syndrome in adultsHemophagocytic syndrome in children and adultsHemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesisSyntaxin binding mechanism and disease-causing mutations in Munc18-2Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosisSyntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulationProtein kinase Cdelta regulates antigen receptor-induced lytic granule polarization in mouse CD8+ CTLAnalysis of familial hemophagocytic lymphohistiocytosis type 4 (FHL-4) mutant proteins reveals that S-acylation is required for the function of syntaxin 11 in natural killer cellsGenotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3Risk factors for early death in children with haemophagocytic lymphohistiocytosis.Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.Risk factors for early fatal outcomes among children with hemophagocytic lymphohistiocytosis (HLH): a single-institution case-series in Vietnam.A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management.Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosisGenetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthoodAtypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesFamilial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Perforin-mediated target-cell death and immune homeostasis.Perforin: structure, function, and role in human immunopathology.Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis.Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosisHemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocolPatients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.VAMP8-dependent fusion of recycling endosomes with the plasma membrane facilitates T lymphocyte cytotoxicity.Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice
P2860
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P2860
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին 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
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@ast
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@en
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@nl
type
label
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@ast
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@en
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@nl
prefLabel
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@ast
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@en
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@nl
P2093
P50
P3181
P356
P1476
Linkage of familial hemophagoc ...... on of mutations in syntaxin 11
@en
P2093
A Sarper Diler
Brigitte Kasper
Gritta Janka
Hartmut Kabisch
Karin Beutel
Susanne Schmidt
P304
P3181
P356
10.1093/HMG/DDI076
P407
P577
2005-03-15T00:00:00Z