Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
about
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)UNC13D 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: review of etiologies and managementFatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reportsMunc18b is an essential gene in mice whose expression is limiting for secretion by airway epithelial and mast cellsStructural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeGenotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthoodPerforin-mediated target-cell death and immune homeostasis.Perforin deficiency and susceptibility to cancer.Perforin: structure, function, and role in human immunopathology.How I treat hemophagocytic lymphohistiocytosis.Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryA Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.Reactive hemophagocytic syndrome complicating the treatment of inflammatory bowel disease.A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.Progressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis.Association of monoclonal expansion of Epstein-Barr virus-negative CD158a+ NK cells secreting large amounts of gamma interferon with hemophagocytic lymphohistiocytosis.Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome.Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Formation and function of the lytic NK-cell immunological synapse.Mouse model for acute Epstein-Barr virus infection.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy.Inherited defects in lymphocyte cytotoxic activity.Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.Chlamydia pneumoniae infection-related hemophagocytic lymphohistiocytosis and acute encephalitis and poliomyelitis-like flaccid paralysis.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis.Genetic dissection of NK cell responses.
P2860
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P2860
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին 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
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@ast
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@en
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@nl
type
label
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@ast
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@en
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@nl
prefLabel
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@ast
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@en
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@nl
P2093
P3181
P356
P1433
P1476
Mutation spectrum in children ...... RF1, UNC13D, STX11, and RAB27A
@en
P2093
Gritta Janka
Hartmut Kabisch
Karin Beutel
Susanne Kolberg
Udo Zur Stadt
P3181
P356
10.1002/HUMU.20274
P407
P577
2006-01-01T00:00:00Z