- 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
Unité d Immunologie et d Hé matologie pédiatriques, Hopital Necker Enfants Malades, 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
Université de Paris René Descartes, Institut National de la Santé et de la Recherche Médicale U550, Faculte de Medecine Necker, 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....