Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. - Wikidata - wikimedia - TriplyDB

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

http://www.wikidata.org/entity/Q37262549

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NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain Prenatal programing: at the intersection of maternal stress and immune activation Mutation analysis in primary immunodeficiency diseases: case studies.Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome.IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.The IKK complex, a central regulator of NF-kappaB activation Specific Antibody Deficiency: Controversies in Diagnosis and Management.NF-κB essential modulator (NEMO) interaction with linear and lys-63 ubiquitin chains contributes to NF-κB activation Invasive pneumococcal disease in children can reveal a primary immunodeficiency.Epstein-Barr latent membrane protein 1 transformation site 2 activates NF-kappaB in the absence of NF-kappaB essential modifier residues 133-224 or 373-419.Cutting edge: association with I kappa B kinase beta regulates the subcellular localization of Homer3.A nonsense mutation in IKBKB causes combined immunodeficiency.Educational paper: syndromic forms of primary immunodeficiency NF-κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria.Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies.Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report.NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Immunodeficiency among children with recurrent invasive pneumococcal disease.New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.NEMO inhibits programmed necrosis in an NFκB-independent manner by restraining RIP1.Recent insights into the pathobiology of innate immune deficiencies Laboratory evaluation of primary immunodeficiencies Toll-like receptor signaling in primary immune deficiencies.Warts and all: human papillomavirus in primary immunodeficiencies.Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.Immunoglobulin class-switch recombination deficiencies.A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.NEMO Prevents RIP Kinase 1-Mediated Epithelial Cell Death and Chronic Intestinal Inflammation by NF-κB-Dependent and -Independent Functions.Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).

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Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

http://www.wikidata.org/entity/Q37262549

description

article científic

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article scientifique

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artigo científico

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bilimsel makale

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scientific article published on 11 October 2008

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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name

Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

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Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

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type

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Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

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Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

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prefLabel

Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

@en

Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

@nl

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J.JACI.2008.08.018

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The Journal of Allergy and Clinical Immunology

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Hypomorphic nuclear factor-kap ...... pic and immunologic diversity.

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Laura A Solt

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

Linda Monaco-Shawver

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

Lisa A Madge

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

Pinaki P Banerjee

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P2860

A20 inhibits tumor necrosis factor (TNF) alpha-induced apoptosis by disrupting recruitment of TRADD and RIP to the TNF receptor 1 complex in Jurkat T cells.

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

Introduction to NF-kappaB: players, pathways, perspectives

Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.

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1169-1177.e16

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scholarly article

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10.1016/J.JACI.2008.08.018

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