- The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromesAsma Smahi
Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM UR 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
Hum Mol Genet 11:2371-5. 2002..Unravelling the molecular bases of other forms of EDA not associated with mutations in NEMO will possibly implicate other components of the NF-kappaB signalling pathway...
- Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his motherSophie Dupuis-Girod
, , Paris, France
Pediatrics 109:e97. 2002..In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females...
- A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiencyGilles Courtois
Unité de Biologie Moléculaire de l Expression Génique, Centre National de la Recherche Scientifique URA 2582, Institut Pasteur, Paris, France
J Clin Invest 112:1108-15. 2003..Our report highlights both the diversity of genotypes associated with EDA-ID and the diversity of immunologic phenotypes associated with mutations in different components of the NF-kappaB signaling pathway...
- Inherited disorders of NF-kappaB-mediated immunity in manAnne Puel
, , , 75015 Paris, France
Curr Opin Immunol 16:34-41. 2004..The description of the infectious phenotypes associated with these genetic defects has initiated the forward genetic dissection of NF-kappaB-mediated immunity in man...
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutationsFrancesca Fusco
Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
Hum Mutat 29:595-604. 2008..The sum of the observations can aid both in determining the molecular basis of IP and EDA-ID allelic diseases, and in genetic counseling in affected families...
- The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translationAnne Puel
Laboratoire de Genetique Humaine des Maladies Infectieuses, Faculte de Medecine Necker-Enfants Malades, 75015 Paris, France
Am J Hum Genet 78:691-701. 2006..The residual production of an NH(2)-truncated NEMO protein was sufficient for normal fetal development and for the subsequent normal development of skin appendages but was insufficient for the development of protective immune responses...
- [New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]Aurore Morlon
Med Sci (Paris) 22:229-30. 2006
- Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivationKaren Helene Ørstavik
Department of Medical Genetics, Forskningsveien 2b, Rikshospitalet, 0027 Oslo, Norway
Am J Med Genet A 140:31-9. 2006..This family may represent a new phenotype within the EDA-ID disorders. From the heterogeneity in X-inactivation phenotype, we conclude that this mutation is not deleterious enough to be lethal for peripheral blood cells...
- TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator EdaraddAurore Morlon
Unité de Recherche sur les Handicaps Génétiques de l Enfant INSERM U 393, Hopital Necker Enfants Malades, 149 rue de Sévres 75015 Paris, France
Hum Mol Genet 14:3751-7. 2005..These results support the involvement of the TAB2/TRAF6/TAK1 signalling complex in the Edar signal transduction pathway and have important implications for our understanding of NF-kappaB activation and EDs in human...
- A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiencyNatalia Martinez-Pomar
Immunology Service, Hospital Universitari Son Dureta, Andrea Doria, 55, 07014, Palma de Mallorca, Balearic Islands, Spain
Hum Genet 118:458-65. 2005..1049dupA, causes RNA or protein instability. To our knowledge, this is the first time that selection against the mutated X-chromosome in X-linked disease has been documented in vivo...
- Clinical study of 40 cases of incontinentia pigmentiSmail Hadj-Rabia
Department of Dermatology, Hopital Necker Enfants Malades, Paris, France
Arch Dermatol 139:1163-70. 2003..To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP)...
- Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR geneHala Megarbane
Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
Am J Med Genet A 146:2657-62. 2008....