Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients - sprookjes - yvandenbroek - TriplyDB

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

http://www.wikidata.org/entity/Q24684113

about

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11 LAMP1/CD107a is required for efficient perforin delivery to lytic granules and NK-cell cytotoxicity Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)Hemophagocytic lymphohistiocytosis: review of etiologies and management Cell biological steps and checkpoints in accessing NK cell cytotoxicity Hemophagocytic syndrome in children and adults Syntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulation Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Two modes of lytic granule fusion during degranulation by natural killer cells Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse.Analysis 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 cells Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3 Risk factors for early death in children with haemophagocytic lymphohistiocytosis.Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.Navigating barriers: the challenge of directed secretion at the natural killer cell lytic immunological synapse.STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5 Shouts, whispers and the kiss of death: directional secretion in T cells Characterization of natural killer cell phenotype and function during recurrent human HSV-2 infection.Expression QTL mapping in regulatory and helper T cells from the BXD family of strains reveals novel cell-specific genes, gene-gene interactions and candidate genes for auto-immune disease.Platelet secretion and hemostasis require syntaxin-binding protein STXBP5.Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases Rapid expansion and long-term persistence of elevated NK cell numbers in humans infected with hantavirus.NCR3/NKp30 contributes to pathogenesis in primary Sjogren's syndrome.ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis Perforin deficiency and susceptibility to cancer.Perforin: structure, function, and role in human immunopathology.Reduced degranulation of NK cells in patients with frequently recurring herpes.ADP-ribose/TRPM2-mediated Ca2+ signaling is essential for cytolytic degranulation and antitumor activity of natural killer cells.Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.VAMP8-dependent fusion of recycling endosomes with the plasma membrane facilitates T lymphocyte cytotoxicity.Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion.Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.Syntaxin-11, but not syntaxin-2 or syntaxin-4, is required for platelet secretion.STX11 functions as a novel tumor suppressor gene in peripheral T-cell lymphomas Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Human NK cell lytic granules and regulation of their exocytosis

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Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

http://www.wikidata.org/entity/Q24684113

description

2007 nî lūn-bûn

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2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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type

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Defective cytotoxic lymphocyte ...... istiocytosis 4 (FHL4) patients

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Anne Grete Bechensteen

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Chengyun Zheng

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Daoxin Ma

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Eric O Long

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Eva Rudd

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Hans-Gustaf Ljunggren

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Paul A Roche

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Roula A Farah

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P2860

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

Seven novel mammalian SNARE proteins localize to distinct membrane compartments

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network

Familial haemophagocytic reticulosis

Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

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668958

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6

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Yenan T Bryceson

Magnus Nordenskjöld

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Jan-Inge Henter

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2007-09-15T00:00:00Z

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6308208

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17525286

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familial hemophagocytic lymphohistiocytosis 4

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1976360

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