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

This publication has 35 references indexed in Scilit:

• Solution Structure of NEMO Zinc Finger and Impact of an Anhidrotic Ectodermal Dysplasia with Immunodeficiency-related Point Mutation
  Journal of Molecular Biology, 2008
• IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function
  Journal of Allergy and Clinical Immunology, 2008
• Dimerization of the IκB Kinase-Binding Domain of NEMO Is Required for Tumor Necrosis Factor Alpha-Induced NF-κB Activity
  Molecular and Cellular Biology, 2006
• Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination
  Blood, 2006
• X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
  The Journal of Experimental Medicine, 2006
• Transient Hemophagocytosis With Deficient Cellular Cytotoxicity, Monoclonal Immunoglobulin M Gammopathy, Increased T-Cell Numbers, and HypomorphicNEMOMutation
  Pediatrics, 2006
• Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-κB activation
  Nature Cell Biology, 2006
• A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
  Human Genetics, 2005
• X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
  Blood, 2004
• Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
  European Journal of Pediatrics, 1996