S
Smail Hadj-Rabia
Researcher at Necker-Enfants Malades Hospital
Publications - 221
Citations - 7245
Smail Hadj-Rabia is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Medicine & Ectodermal dysplasia. The author has an hindex of 38, co-authored 189 publications receiving 6035 citations. Previous affiliations of Smail Hadj-Rabia include Paris Descartes University & University of Paris.
Papers
More filters
Journal ArticleDOI
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
Slaheddine Marrakchi,Philippe Guigue,Blair R. Renshaw,Anne Puel,Xue-Yuan Pei,Sylvie Fraitag,Jihen Zribi,Elodie Bal,Céline Cluzeau,Maya Chrabieh,Jennifer E. Towne,Jason Douangpanya,Christian Pons,Sourour Mansour,Valérie Serre,Hafedh Makni,Nadia Mahfoudh,Faiza Fakhfakh,Christine Bodemer,Josué Feingold,Smail Hadj-Rabia,Michel Favre,Emmanuelle Génin,Mourad Sahbatou,Arnold Munnich,Jean-Laurent Casanova,John E. Sims,Hamida Turki,Hervé Bachelez,Asma Smahi +29 more
TL;DR: Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis.
Journal ArticleDOI
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
Smail Hadj-Rabia,Lekbir Baala,Pierre Vabres,D. Hamel-Teillac,Emmanuel Jacquemin,Monique Fabre,Stanislas Lyonnet,Yves de Prost,Arnold Munnich,Michelle Hadchouel,Asma Smahi +10 more
TL;DR: Lack of claudin-1 in NISCH syndrome may lead to increased paracellular permeability between epithelial cells, and ZO-2-associated hypercholanemia emphasizes the role played by TJ components in hereditary cholestasis.
Journal ArticleDOI
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.
Christine Bodemer,Christine Bodemer,Olivier Hermine,Olivier Hermine,Fabienne Palmerini,Ying Yang,Catherine Grandpeix-Guyodo,Phillip S. Leventhal,Smail Hadj-Rabia,Smail Hadj-Rabia,Laurent Nasca,Sophie Georgin-Lavialle,Annick Cohen-Akenine,Jean-Marie Launay,Stéphane Barete,Frédéric Féger,Michel Arock,B. Catteau,Beatrix Sans,J. F. Stalder,François Skowron,Luc Thomas,Gérard Lorette,Patrice Plantin,Pierre Bordigoni,Olivier Lortholary,Olivier Lortholary,Yves de Prost,Yves de Prost,Alain Moussy,Hagay Sobol,Hagay Sobol,Patrice Dubreuil +32 more
TL;DR: The findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT.
Journal ArticleDOI
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Claire Navarro,Annachiara De Sandre-Giovannoli,Rafaëlle Bernard,Irène Boccaccio,Amandine Boyer,David Geneviève,Smail Hadj-Rabia,Caroline Gaudy-Marqueste,Henk Sillevis Smitt,Pierre Vabres,Laurence Faivre,Alain Verloes,Ton van Essen,Elisabeth Flori,Raoul C.M. Hennekam,Frits A. Beemer,Nicole Laurent,Martine Le Merrer,Pierre Cau,Nicolas Lévy +19 more
TL;DR: In this paper, the authors explored nine fetuses/newborns children with tight skin contracture syndrome (RD) and found that two of them had a unique heterozygous insertion leading to the creation of a premature termination codon.
Journal ArticleDOI
Mutant WD-repeat protein in triple-A syndrome
Anna Tullio-Pelet,Rémi Salomon,Smail Hadj-Rabia,Claude Mugnier,Marc-Henri de Laet,B. Chaouachi,Fawzi Bakiri,Philippe Brottier,Laurence Cattolico,Clothilde Penet,Martine Begeot,Danielle Naville,Marc Nicolino,Jean-Louis Chaussain,Jean Weissenbach,Arnold Munnich,Stanislas Lyonnet +16 more
TL;DR: The expression of the gene in both neuroendocrine and cerebral structures points to a role in the normal development of the peripheral and central nervous systems, indicating a new disease mechanism involved in triple-A syndrome.