Asma Smahi

Summary

Country: France

Publications

  1. ncbi request reprint 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 request reprint Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie Dupuis-Girod
    Unité d Immunologie et d Hé matologie pédiatriques, Hopital Necker Enfants Malades, Paris, France
    Pediatrics 109:e97. 2002
  3. pmc 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 request reprint Inherited disorders of NF-kappaB-mediated immunity in man
    Anne 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
  5. doi request reprint 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. pmc 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 request reprint [New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]
    Aurore Morlon
    Med Sci (Paris) 22:229-30. 2006
  8. ncbi request reprint 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 request reprint 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 request reprint 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
  • Hala Megarbane
  • Francesca Fusco
  • Karen Helene Ørstavik
  • Sylvie Fraitag
  • Natalia Martinez-Pomar
  • Arnold Munnich
  • Sophie Dupuis-Girod
  • Michele D'Urso
  • Elodie Bal
  • Céline Cluzeau
  • Alessandra Pescatore
  • Mariateresa Paciolla
  • Aida Ghoul
  • Jean Paul Bonnefont
  • Myrna Chababi-Atallah
  • Maria Giuseppina Miano
  • Smail Hadj Rabia
  • Matilde Valeria Ursini
  • Maria Brigida Lioi
  • Andre Megarbane
  • Marianne Kristiansen
  • Ashild Vege
  • Gun Peggy Knudsen
  • Tore G Abrahamsen
  • Jon Steen-Johnsen
  • Kari Storhaug
  • Kristin Eiklid
  • Ivan Munoz-Saa
  • Nuria Matamoros
  • Damian Heine-Suner
  • Ana Martin
  • Nathalie Bodak
  • Yasmina Touil
  • Yves De Prost
  • Dominique Hamel-Teillac
  • David Froidevaux
  • Nicole Brousse
  • Philippe Durand
  • Jean Christophe Fournet
  • Laurence Faivre
  • Nadege Corradini
  • Rainer Doffinger
  • Francoise Le Deist
  • Stephane Blanche

Detail Information

Publications12

  1. ncbi request reprint 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 request reprint Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie 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...
  3. pmc 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 request reprint Inherited disorders of NF-kappaB-mediated immunity in man
    Anne 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...
  5. doi request reprint 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. pmc 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 request reprint [New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1]
    Aurore Morlon
    Med Sci (Paris) 22:229-30. 2006
  8. ncbi request reprint 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 request reprint 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 request reprint 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 request reprint 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. doi request reprint 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
    ....