Associated Papers
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Structural basis for the activation and ligand recognition of the human oxytocin receptor.
Waltenspühl Y et al.
Nature Communications, 2022
Structurally plastic NEMO and oligomerization prone IKK2 subunits define the behavior of human IKK2:NEMO complexes in solution.
Ko MS et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
Heller S et al.
Journal of Clinical Immunology, 2020
A Central Region of NF-κB Essential Modulator Is Required for IKKβ-Induced Conformational Change and for Signal Propagation.
Shaffer R et al.
Biochemistry, 2019
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson B et al.
The Journal of Clinical Investigation, 2019
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G et al.
Journal of Clinical Immunology, 2017
Hematopoietic stem cell transplantation for RelB deficiency.
Ovadia A et al.
The Journal of Allergy and Clinical Immunology, 2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C et al.
Blood, 2017
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI et al.
Human Mutation, 2014
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.
Devora GA et al.
Journal of Clinical Immunology, 2010
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
Wang HY et al.
Human Mutation, 2010
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.
Gautheron J et al.
Human Molecular Genetics, 2010
IgA and IgG hypogammaglobulinemia in Waldenström's macroglobulinemia.
Hunter ZR et al.
Haematologica, 2010
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
Hanson EP et al.
The Journal of Allergy and Clinical Immunology, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.
Salt BH et al.
The Journal of Allergy and Clinical Immunology, 2008
Random mutagenesis of the M3 muscarinic acetylcholine receptor expressed in yeast: identification of second-site mutations that restore function to a coupling-deficient mutant M3 receptor.
Li B et al.
The Journal of Biological Chemistry, 2005
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F et al.
Human Molecular Genetics, 2004