X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
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Gene defect in ectodermal dysplasia implicates a death domain adapter in developmentProtein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansImmunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyBiomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesisRole of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptorHuman osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsSINTBAD, a novel component of innate antiviral immunity, shares a TBK1-binding domain with NAP1 and TANKNEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domainEnhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucomaCCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signalingTRAF6-deficient mice display hypohidrotic ectodermal dysplasia.EDA signaling and skin appendage developmentRegulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombinationLys63-linked polyubiquitination of IRAK-1 is required for interleukin-1 receptor- and toll-like receptor-mediated NF-kappaB activationPathogen recognition and inflammatory signaling in innate immune defensesInterleukin-1 (IL-1) induces the Lys63-linked polyubiquitination of IL-1 receptor-associated kinase 1 to facilitate NEMO binding and the activation of IkappaBalpha kinaseSevere infectious diseases of childhood as monogenic inborn errors of immunityMolecular basis of hypohidrotic ectodermal dysplasia: an updateMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityBacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseasesMendelian genetics of human susceptibility to fungal infectionProgrammed necrosis in the cross talk of cell death and inflammationLinear ubiquitination signals in adaptive immune responsesBK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiencyLinear ubiquitination in immunityFunctional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth AgenesisA role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alphaA model for gene therapy of human hereditary lymphedemaNEMO trimerizes through its coiled-coil C-terminal domainNF-kappaB-related genetic diseasesHyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological featuresGenetics of lymphatic anomaliesOpg, Rank, and Rankl in tooth development: co-ordination of odontogenesis and osteogenesisStructure-function analysis of the A20-binding inhibitor of NF-kappa B activation, ABIN-1A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosisThe Influenza A Virus Genotype Determines the Antiviral Function of NF-κBUpdate on the hyper immunoglobulin M syndromesDeficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
P2860
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P2860
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
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2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@ast
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@en
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@nl
type
label
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@ast
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@en
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@nl
prefLabel
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@ast
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@en
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@nl
P2093
P50
P3181
P356
P1433
P1476
X-linked anhidrotic ectodermal ...... y impaired NF-kappaB signaling
@en
P2093
D J Headon
D S Kumararatne
F Le Deist
G Courtois
P2888
P304
P3181
P356
10.1038/85837
P407
P577
2001-03-01T00:00:00Z