Asma Smahi

Summary

Country: France

Publications

  1. ncbi The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    Asma 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
  2. ncbi Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    , , Paris, France
    Pediatrics 109:e97. 2002
  3. ncbi A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
    Gilles 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
  4. ncbi Inherited disorders of NF-kappaB-mediated immunity in man
    Anne Puel
    , , , 75015 Paris, France
    Curr Opin Immunol 16:34-41. 2004
  5. ncbi Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
    Francesca Fusco
    Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
    Hum Mutat 29:595-604. 2008
  6. ncbi The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
    Anne 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
  7. ncbi [New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]
    Aurore Morlon
    Med Sci (Paris) 22:229-30. 2006
  8. ncbi Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
    Karen Helene Ørstavik
    Department of Medical Genetics, Forskningsveien 2b, Rikshospitalet, 0027 Oslo, Norway
    Am J Med Genet A 140:31-9. 2006
  9. ncbi TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd
    Aurore 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
  10. ncbi A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
    Natalia Martinez-Pomar
    Immunology Service, Hospital Universitari Son Dureta, Andrea Doria, 55, 07014, Palma de Mallorca, Balearic Islands, Spain
    Hum Genet 118:458-65. 2005

Collaborators

  • Anne Puel
  • Alain Israel
  • Jean Laurent Casanova
  • Gilles Courtois
  • Aurore Morlon
  • A Durandy
  • C Picard
  • A Fischer
  • Karen Helene Orstavik
  • Christine Bodemer
  • Smail Hadj-Rabia
  • Francesca Fusco
  • Hala Megarbane
  • Karen Helene Ørstavik
  • Sylvie Fraitag
  • Arnold Munnich
  • Natalia Martinez-Pomar
  • Sophie Dupuis-Girod
  • Elodie Bal
  • Smail Hadj Rabia
  • Matilde Valeria Ursini
  • Michele D'Urso
  • Aida Ghoul
  • Céline Cluzeau
  • Mariateresa Paciolla
  • Jean Paul Bonnefont
  • Andre Megarbane
  • Alessandra Pescatore
  • Myrna Chababi-Atallah
  • Maria Giuseppina Miano
  • Maria Brigida Lioi
  • Kristin Eiklid
  • Ashild Vege
  • Gun Peggy Knudsen
  • Tore G Abrahamsen
  • Jon Steen-Johnsen
  • Kari Storhaug
  • Marianne Kristiansen
  • Damian Heine-Suner
  • Ivan Munoz-Saa
  • Ana Martin
  • Nuria Matamoros
  • Nathalie Bodak
  • Dominique Hamel-Teillac
  • Yves De Prost
  • Yasmina Touil
  • David Froidevaux
  • Philippe Durand
  • Nicole Brousse
  • Laurence Faivre
  • Jean-Christophe Fournet

Detail Information

Publications12

  1. ncbi The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    Asma 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...
  2. ncbi Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    , , Paris, France
    Pediatrics 109:e97. 2002
    ..In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females...
  3. ncbi A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
    Gilles 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...
  4. ncbi Inherited disorders of NF-kappaB-mediated immunity in man
    Anne 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...
  5. ncbi Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
    Francesca 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...
  6. ncbi The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
    Anne 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...
  7. ncbi [New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]
    Aurore Morlon
    Med Sci (Paris) 22:229-30. 2006
  8. ncbi Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation
    Karen 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...
  9. ncbi TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd
    Aurore 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...
  10. ncbi A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
    Natalia 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...
  11. ncbi Clinical study of 40 cases of incontinentia pigmenti
    Smail 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)...
  12. ncbi Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene
    Hala Megarbane
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 146:2657-62. 2008
    ....