STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5 - sprookjes - yvandenbroek - TriplyDB

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

http://www.wikidata.org/entity/Q33970490

about

Syntaxin binding mechanism and disease-causing mutations in Munc18-2 Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.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 Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2 Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).Munc18b/STXBP2 is required for platelet secretion.Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis Comparative studies of Munc18c and Munc18-1 reveal conserved and divergent mechanisms of Sec1/Munc18 proteins.Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Advances in understanding the pathogenesis of HLH.The biogenesis of lysosomes and lysosome-related organelles SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity.Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.Molecular basis of familial hemophagocytic lymphohistiocytosis.Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.

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P2860

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

http://www.wikidata.org/entity/Q33970490

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

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2010年論文

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2010年论文

@wuu

name

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

@en

type

label

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

@ast

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

@en

prefLabel

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

@ast

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

@en

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JMG.2009.075341

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Journal of Medical Genetics

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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

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P2093

Alessandra Santoro

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Daniela Pende

http://www.w3.org/2001/XMLSchema#string

Fang Zhao

http://www.w3.org/2001/XMLSchema#string

Florian Koch

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Karin Beutel

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Maurizio Aricò

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Rachel Wheeler

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Samantha Grieve

http://www.w3.org/2001/XMLSchema#string

P2860

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

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

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

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

Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP).

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

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595-600

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10.1136/JMG.2009.075341

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9

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47

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Gillian Griffiths

Kimberly Gilmour

Valentina Cetica

Stefania Marcenaro

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2010-09-01T00:00:00Z

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46009357

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20798128

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4115259

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