Associated Papers
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.
Sanford Kobayashi E et al.
Scientific Reports, 2022
Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis.
Jimi E et al.
International Journal of Molecular Sciences, 2022
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson B et al.
The Journal of Clinical Investigation, 2019
NEMO Links Nuclear Factor-κB to Human Diseases.
Maubach G et al.
Trends in Molecular Medicine, 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
Dental and oral anomalies in incontinentia pigmenti: a systematic review.
Minić S et al.
Clinical Oral Investigations, 2013
NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.
Audry M et al.
The Journal of Allergy and Clinical Immunology, 2011
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
Hubeau M et al.
Blood, 2011
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
Roberts CM et al.
European Journal of Pediatrics, 2010
The zinc finger domain of IKKγ (NEMO) protein in health and disease.
Shifera AS
Journal of Cellular and Molecular Medicine, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.
Fish JD et al.
Bone Marrow Transplantation, 2009
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Villa A et al.
Calcified Tissue International, 2009
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
[An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO].
Zhang G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
Mutations in the NF-kappaB signaling pathway: implications for human disease.
Courtois G et al.
Oncogene, 2006
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O et al.
The Journal of Experimental Medicine, 2006
NF-kappaB-related genetic diseases.
Courtois G et al.
Cell Death and Differentiation, 2006
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A et al.
American Journal of Human Genetics, 2006
Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
Ørstavik KH et al.
American Journal of Medical Genetics. Part A, 2006
The range of defects associated with nuclear factor kappaB essential modulator.
Uzel G
Current Opinion in Allergy and Clinical Immunology, 2005
A clinical and molecular overview of the human osteopetroses.
Balemans W et al.
Calcified Tissue International, 2005
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.
Orange JS et al.
Immunological Reviews, 2005
Inherited disorders of cytokines.
Picard C et al.
Current Opinion in Pediatrics, 2004
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
Steffann J et al.
Prenatal Diagnosis, 2004
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Dupuis-Girod S et al.
Pediatrics, 2002
Host susceptibility factors in mycobacterial infection. Genetics and body morphotype.
Guide SV et al.
Infectious Disease Clinics of North America, 2002
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Aradhya S et al.
Human Molecular Genetics, 2001
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.
Mansour S et al.
American Journal of Medical Genetics, 2001
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R et al.
Nature Genetics, 2001
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).
Zonana J et al.
American Journal of Human Genetics, 2000
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Smahi A et al.
Nature, 2000