Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). - Wikidata - awgldk - TriplyDB

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

http://www.wikidata.org/entity/Q48219972

about

Slp1 and Slp2-a localize to the plasma membrane of CTL and contribute to secretion from the immunological synapse Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11 Granule exocytosis is required for platelet spreading: differential sorting of α-granules expressing VAMP-7 LAMP1/CD107a is required for efficient perforin delivery to lytic granules and NK-cell cytotoxicity The Rab27a-binding protein, JFC1, regulates androgen-dependent secretion of prostate-specific antigen and prostatic-specific acid phosphatase Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis Cargos and genes: insights into vesicular transport from inherited human disease Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients The presynaptic active zone Munc13 C2B domain is an activity-dependent Ca2+ regulator of synaptic exocytosis New Insights into How Trafficking Regulates T Cell Receptor Signaling Hemophagocytic Lymphohistiocytosis in Children: Pathogenesis and Treatment Comparative Anatomy of Phagocytic and Immunological Synapses Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis Lysosome-Related Effector Vesicles in T Lymphocytes and NK Cells Hemophagocytic lymphohistiocytosis: review of etiologies and management Clinical characteristics and treatment outcomes of autoimmune-associated hemophagocytic syndrome in adults Hemophagocytic syndrome in children and adults Regulation of vesicular trafficking and leukocyte function by Rab27 GTPases and their effectors Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis Systematic review: macrophage activation syndrome in inflammatory bowel disease Munc13-4 interacts with syntaxin 7 and regulates late endosomal maturation, endosomal signaling, and TLR9-initiated cellular responses Behavior and Properties of Mature Lytic Granules at the Immunological Synapse of Human Cytotoxic T Lymphocytes The Crystal Structure of a Munc13 C-terminal Module Exhibits a Remarkable Similarity to Vesicle Tethering Factors Syntaxin binding mechanism and disease-causing mutations in Munc18-2 Mso1 is a novel component of the yeast exocytic SNARE complex.Diacylglycerol Kinases in T Cell Tolerance and Effector Function A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports Macrophage activation syndrome: advances towards understanding pathogenesis Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis Syntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulation Identification of a Munc13-sensitive step in chromaffin cell large dense-core vesicle exocytosis Size-dependent mechanism of cargo sorting during lysosome-phagosome fusion is controlled by Rab34 Biomarkers in systemic juvenile idiopathic arthritis: a comparison with biomarkers in cryopyrin-associated periodic syndromes

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P2860

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

http://www.wikidata.org/entity/Q48219972

description

2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年學術文章

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2003年學術文章

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name

Munc13-4 is essential for cyto ...... ic lymphohistiocytosis (FHL3).

@en

Munc13-4 is essential for cyto ...... phagocytic lymphohistiocytosis

@nl

type

label

Munc13-4 is essential for cyto ...... ic lymphohistiocytosis (FHL3).

@en

Munc13-4 is essential for cyto ...... phagocytic lymphohistiocytosis

@nl

prefLabel

Munc13-4 is essential for cyto ...... ic lymphohistiocytosis (FHL3).

@en

Munc13-4 is essential for cyto ...... phagocytic lymphohistiocytosis

@nl

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Munc13-4 is essential for cyto ...... ic lymphohistiocytosis (FHL3).

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P2093

Alain Fischer

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Cécile Dumont

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Delphine Bacq

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Etienne Vilmer

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Françoise Le Deist

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Gaëlle Chedeville

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Geneviève de Saint Basile

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Graça Raposo

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Hannah Tamary

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Isabelle Callebaut

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461-473

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scholarly article

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10.1016/S0092-8674(03)00855-9

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4

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115

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Véronique Minard-Colin

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2003-11-01T00:00:00Z

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9003822

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14622600

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familial hemophagocytic lymphohistiocytosis