檢索結果 - Asma Smahi

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  1. 1
    The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

    The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes 由 Asma Smahi

    出版 2002
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  2. 2
    NF-kappaB-related genetic diseases.

    NF-kappaB-related genetic diseases. 由 Gilles Courtois, Asma Smahi

    出版 2006
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  3. 3
    TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd

    TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd 由 Aurore Morlon, Arnold Münnich, Asma Smahi

    出版 2005
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  4. 4
    Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds

    Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds 由 É. Sbidian, Marine Madrange, M. Viguier, Maud Salmona, Sabine Duchatelet, Alain Hovnanian, Asma Smahi, Jérôme Le Goff, H. Bachelez

    出版 2019
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  5. 5
    Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms

    Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms 由 Francesca Fusco, Mariateresa Paciolla, Federico Napolitano, Alessandra Pescatore, Irene D’Addario, Élodie Bal, Maria Brigida Lioi, Asma Smahi, Maria Giuseppina Miano, Matilde Valeria Ursini

    出版 2011
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  6. 6
    Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

    Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease 由 S. Hadj‐Rabia, Lekbir Baala, P. Vabres, Dominique Hamel‐Teillac, Emmanuel Jacquemin, Monique Fabrè, Stanislas Lyonnet, Y. De Prost, Arnold Münnich, Michelle Hadchouel, Asma Smahi

    出版 2004
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  7. 7
    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation 由 Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bôle‐Feysot, Patrick Nitschké, Asma Smahi, Arnold Münnich, Laurence Colleaux

    出版 2009
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  8. 8
    A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

    A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations 由 Swaroop Aradhya, Hayley Woffendin, Tracy Jakins, Tiziana Bardaro, Teresa Esposito, Asma Smahi, Christine Shaw, Moise L. Levy, Arnold Munnich, Michele D’Urso, Richard A. Lewis, Sue Kenwrick, David L. Nelson

    出版 2001
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  9. 9
    Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

    Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations 由 Francesca Fusco, Alessandra Pescatore, Élodie Bal, Aïda Ghoul, Mariateresa Paciolla, Maria Brigida Lioi, Michele D’Urso, S. Hadj‐Rabia, Christine Bodemer, Jean‐Paul Bonnefont, Arnold Münnich, Maria Giuseppina Miano, Asma Smahi, Matilde Valeria Ursini

    出版 2008
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  10. 10
    Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa

    Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa 由 Florence Assan, J. Gottlieb, Florence Tubach, Saïd Lebbah, Nicolas Guigue, G. Hickman, E. Pape, Marine Madrange, Éric Delaporte, Boualem Sendid, F. Aubin, Francis Derouin, Stéphane Bretagne, Pascal Richette, Asma Smahi, É. Sbidian, H. Bachelez

    出版 2020
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  11. 11
    IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

    IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases 由 M. Tauber, Élodie Bal, Xue-Yuan Pei, Marine Madrange, Amel Haj Khelil, H. Sahel, Akila Zenati, Mohamed Makrelouf, Khaled Boubridaa, Amel Chiali, Naima Smahi, F. Otsmane, Bakar Bouajar, Slaheddine Marrakchi, H. Turki, E. Bourrat, M. Viguier, Yamina Hamel, H. Bachelez, Asma Smahi

    出版 2016
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  12. 12
    A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

    A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency 由 Gilles Courtois, Asma Smahi, Janine Reichenbach, Rainer Döffinger, Caterina Cancrini, Marion Bonnet, Anne Puel, Christine Chable-Bessia, Shoji Yamaoka, Jacqueline Feinberg, Sophie Dupuis‐Girod, Christine Bodemer, Susanna Livadiotti, Francesco Novelli, Paolo Rossi, Alain Fischer, Alain Israël, Arnold Munnich, Françoise Le Deist, Jean‐Laurent Casanova

    出版 2003
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  13. 13
    Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

    Insight into<i>IKBKG</i>/<i>NEMO</i>Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease 由 Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, Elio Esposito, Maria Giuseppina Miano, Maria Brigida Lioi, Maeve A. McAleer, Giuliana Giardino, Claudio Pignata, Alan D. Irvine, Angela E. Scheuerle, Ghislaine Royer, S. Hadj‐Rabia, Christine Bodemer, Jean‐Paul Bonnefont, Arnold Münnich, Asma Smahi, Julie Steffann, Francesca Fusco, Matilde Valeria Ursini

    出版 2013
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  14. 14
    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

    Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases 由 Céline Cluzeau, S. Hadj‐Rabia, Marguerite Jambou, Sourour Mansour, Philippe Guigue, Sahben Masmoudi, Élodie Bal, Nicolas Chassaing, Marie‐Claire Vincent, Géraldine Viot, François Clauss, Marie‐Cécile Manière, Steve Toupenay, Martine Le Merrer, Stanislas Lyonnet, Valérie Cormier‐Daire, Jeanne Amiel, Laurence Faivre, Y. De Prost, Arnold Münnich, Jean‐Paul Bonnefont, Christine Bodemer, Asma Smahi

    出版 2010
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  15. 15
    Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts

    Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts 由 Caroline Michot, Asmaa Mamoune, Jòseph Vamecq, Mai Thao Viou, Lu‐Sheng Hsieh, Eric Testet, Jeanne Lainé, Laurence Hubert, Anne‐Frédérique Dessein, Monique Fontaine, Chris Ottolenghi, Laëtitia Fouillen, Karim Nadra, Étienne Blanc, Jean Bastin, Sophie Candon, Mario Pende, Arnold Münnich, Asma Smahi, Fatima Djouadi, George Carman, Norma B. Romero, Yves de Keyzer, Pascale de Lonlay

    出版 2013
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  16. 16
    Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome

    Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome 由 Susan Kenwrick, Hayley Woffendin, Tracy Jakins, Stephen Shuttleworth, E J Mayer, Lynn Greenhalgh, John C. Whittaker, Simone Rugolotto, Tiziana Bardaro, Teresa Esposito, Michele D’Urso, Fiorenza Soli, Alberto Turco, Asma Smahi, Dominique Hamel‐Teillac, Stanislas Lyonnet, Jean‐Paul Bonnefont, A Munnich, Swaroop Aradhya, Catherine D. Kashork, Lisa G. Shaffer, David L. Nelson, Moise L. Levy, Richard A. Lewis

    出版 2001
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  17. 17
    AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking

    AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking 由 Niovi Setta-Kaffetzi, Michael A. Simpson, Alexander A. Navarini, Varsha Patel, Hui-Chun Lu, Michael H. Allen, Michael Duckworth, H. Bachelez, A. David Burden, Siew Eng Choon, C.E.M. Griffiths, Brian Kirby, Antonios G.A. Kolios, Marieke M.B. Seyger, Christa Prins, Asma Smahi, Richard C. Trembath, Franca Fraternali, Catherine Smith, Juliet N. Barker, Francesca Capon

    出版 2014
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  18. 18
    Epithelial barrier dysfunction in desmoglein-1 deficiency

    Epithelial barrier dysfunction in desmoglein-1 deficiency 由 Laura Polivka, S. Hadj‐Rabia, Élodie Bal, Stéphanie Leclerc‐Mercier, Marine Madrange, Yamina Hamel, Damien Bonnet, S. Mallet, Hubert Lépidi, Caroline Ovaert, P. Barbet, Christophe Dupont, Bénédicte Neven, Arnold Münnich, Lisa M. Godsel, Florence Campeotto, Robert Weil, Emmanuel Laplantine, Sylvie Marchetto, Jean‐Paul Borg, William I. Weis, Jean‐Laurent Casanova, Anne Puel, Kathleen J. Green, Christine Bodemer, Asma Smahi

    出版 2018
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  19. 19
    A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

    A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome 由 Bahia Bekhouche, Aurore Tourville, Yamini Ravichandran, Rachida Tacine, Laurence Abrami, Michaël Dussiot, Andrea Khau-Dancasius, O. Boccara, Meriem Khirat, Marianne Mangeney, Florent Dingli, Damarys Loew, Batiste Boëda, Pénélope Jordan, Thierry Jo Molina, N. Bellon, Sylvie Fraitag, S. Hadj‐Rabia, Stéphane Blanche, Anne Puel, Sandrine Etienne‐Manneville, Gijs R. van den Brink, Jacqueline Cherfils, Olivier Hermine, Jean‐Laurent Casanova, Christine Bodemer, Asma Smahi, Jérôme Delon

    出版 2020
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  20. 20
    Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

    Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis 由 Slaheddine Marrakchi, Philippe Guigue, Blair R. Renshaw, Anne Puel, Xue-Yuan Pei, Sylvie Fraïtag, Jihen Zribi, Élodie Bal, Céline Cluzeau, Maya Chrabieh, Jennifer E. Towne, Jason Douangpanya, Christian Pons, Sourour Mansour, Valérie Serre, H. Makni, Nadia Mahfoudh, Faiza Fakhfakh, Christine Bodemer, Josué Feingold, S. Hadj‐Rabia, Michel Fãvre, Emmanuelle Génin, Mourad Sahbatou, Arnold Münnich, Jean‐Laurent Casanova, John E. Sims, H. Turki, H. Bachelez, Asma Smahi

    出版 2011
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