Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
about
Slp1 and Slp2-a localize to the plasma membrane of CTL and contribute to secretion from the immunological synapseHemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemiaUNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosisRegulation of vesicular trafficking and leukocyte function by Rab27 GTPases and their effectorsFatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reportsHematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) stepCrucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5Atypical 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.Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.Rab27b regulates number and secretion of platelet dense granules.Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion.Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryProgressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis.Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Inherited defects in lymphocyte cytotoxic activity.Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Advances in understanding the pathogenesis of HLH.Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.Clinical characteristics, prognostic factors, and outcomes of adult patients with hemophagocytic lymphohistiocytosis.Inducible T Cell Kinase Regulates the Acquisition of Cytolytic Capacity and Degranulation in CD8+ CTLs.Altered gene expression and possible immunodeficiency in cases of sudden infant death syndrome.A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.Molecular basis of familial hemophagocytic lymphohistiocytosis.Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea
P2860
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P2860
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@ast
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@en
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@nl
type
label
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@ast
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@en
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@nl
prefLabel
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@ast
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@en
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@nl
P2093
P2860
P3181
P356
P1476
Novel Munc13-4 mutations in ch ...... phagocytic lymphohistiocytosis
@en
P2093
A Trizzino
C Danesino
C De Fusco
C Micalizzi
J C Stinchcombe
P2860
P304
P3181
P356
10.1136/JMG.2006.041863
P407
P577
2006-07-06T00:00:00Z