P
Philippe Guigue
Researcher at Necker-Enfants Malades Hospital
Publications - 7
Citations - 1324
Philippe Guigue is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: EDARADD & Ectodysplasin A. The author has an hindex of 6, co-authored 6 publications receiving 1139 citations.
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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
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Céline Cluzeau,Smail Hadj-Rabia,Marguerite Jambou,Sourour Mansour,Philippe Guigue,Sahben Masmoudi,Elodie 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,Yves de Prost,Arnold Munnich,Jean-Paul Bonnefont,Christine Bodemer,Asma Smahi +22 more
TL;DR: Although no clinical differences between patients carrying EDA1, EDAR, or EDARADD mutations could be identified, patients harboring WNT10A mutations displayed distinctive clinical features, helping to decide which gene should be first investigated in HED/EDA.
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Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: lack of correlation with IL1RN mutations.
Journal ArticleDOI
Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation
Orianne Philippe,Marlène Rio,Astrid Carioux,Jean-Marc Plaza,Philippe Guigue,Florence Molinari,Nathalie Boddaert,Christine Bole-Feysot,Patrick Nitschke,Asma Smahi,Arnold Munnich,Laurence Colleaux +11 more
TL;DR: Evidence is provided of an NF-kappaB signaling defect in isolated MR, and a nonsense variant within exon 9 of this gene that is responsible for an undetectable level of TRAPPC9 protein in patient skin fibroblasts is revealed.
Journal ArticleDOI
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
Julie Salomon,Yolanda Espinosa-Parrilla,Olivier Goulet,Wafa’a Al-Qabandi,Philippe Guigue,Danielle Canioni,Julie Bruneau,Fatema Alzahrani,Saleh Al-Muhsen,Nadine Cerf-Bensussan,Marc Jeanpierre,Nicole Brousse,Stanislas Lyonnet,Arnold Munnich,Asma Smahi +14 more
TL;DR: Studying seven multiplex consanguineous families from the Arabic peninsula, it was found that most patients were homozygote for a c.498insC mutation in exon 5, suggesting a very old founder effect (5000-6000 yrs).