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

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

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

http://www.wikidata.org/entity/Q28202460

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SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling TRAF6-deficient mice display hypohidrotic ectodermal dysplasia.Role of NF kappa B activator Act1 in CD40-mediated signaling in epithelial cells Regulation of aicda expression and AID activity: relevance to somatic hypermutation and class switch DNA recombination Pathogen recognition and inflammatory signaling in innate immune defenses The molecular pathology of primary immunodeficiencies Severe infectious diseases of childhood as monogenic inborn errors of immunity Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Mendelian genetics of human susceptibility to fungal infection BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha NF-kappaB-related genetic diseases Signals from within: the DNA-damage-induced NF-kappaB response Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features Update on the hyper immunoglobulin M syndromes Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.Three novel mutations reflect the variety of defects causing phenotypically diverse X-linked hyper-IgM syndrome.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.Common variable immunodeficiency: etiological and treatment issues.ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.The IKK complex, a central regulator of NF-kappaB activation A mutation of Ikbkg causes immune deficiency without impairing degradation of IkappaB alpha.Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.Ectodermal dysplasias: a new clinical-genetic classification CRAC channelopathies.A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.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.Novel INHAT repressor (NIR) is required for early lymphocyte development.The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation.Inherited disorders of human Toll-like receptor signaling: immunological implications.Gastrointestinal and hepatic manifestations of primary immune deficiency diseases.The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways.Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.NF-kappaB family of transcription factors: central regulators of innate and adaptive immune functions.How are the regulators regulated? The search for mechanisms that impose specificity on induction of cell death and NF-kappaB activation by members of the TNF/NGF receptor family.Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections.

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

http://www.wikidata.org/entity/Q28202460

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2001 nî lūn-bûn

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A Jain

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P2860

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

CD40 AND CD154 IN CELL-MEDIATED IMMUNITY

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

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)

NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses

A human homologue of the Drosophila Toll protein signals activation of adaptive immunity

A ubiquitin ligase complex essential for the NF-kappaB, Wnt/Wingless, and Hedgehog signaling pathways

Severe osteopetrosis, defective interleukin-1 signalling and lymph node organogenesis in TRAF6-deficient mice

Activation of the IkappaB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain

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