C
Céline Cluzeau
Researcher at National Institutes of Health
Publications - 18
Citations - 1684
Céline Cluzeau is an academic researcher from National Institutes of Health. The author has contributed to research in topics: NPC1 & Ectodysplasin A. The author has an hindex of 14, co-authored 18 publications receiving 1437 citations. Previous affiliations of Céline Cluzeau include Paris Descartes University & Necker-Enfants Malades Hospital.
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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.
Journal ArticleDOI
Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1
Céline Cluzeau,Dawn E. Watkins-Chow,Rao Fu,Rao Fu,Bhavesh Borate,Nicole M. Yanjanin,Michelle K. Dail,Cristin Davidson,Steven U. Walkley,Daniel S. Ory,Christopher A. Wassif,William J. Pavan,Forbes D. Porter +12 more
TL;DR: Two secreted proteins, galectin-3 (LGALS3), a pro-inflammatory molecule, and cathepsin D (CTSD), a lysosomal aspartic protease, have the potential to aid in diagnosis and serve as biomarkers to monitor efficacy in therapeutic trials.
Journal ArticleDOI
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
Elodie Bal,Lekbir Baala,Céline Cluzeau,F. El Kerch,K. Ouldim,Smail Hadj-Rabia,Christine Bodemer,Arnold Munnich,Gilles Courtois,Abdelaziz Sefiani,A. Smahi +10 more
TL;DR: It is confirmed that NF‐kB activation is impaired in EDA and support the role of EDARADD DD as a downstream effector of EDar signaling.
Journal ArticleDOI
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
Stephanie M. Cologna,Céline Cluzeau,Nicole M. Yanjanin,Paul S. Blank,Michelle K. Dail,Stephan Siebel,Cynthia L. Toth,Christopher A. Wassif,Andrew P. Lieberman,Forbes D. Porter +9 more
TL;DR: The identification of inflammatory markers with altered levels in the cerebrospinal fluid of NPC1 patients may provide a means to follow secondary events in NPC1 disease during therapeutic trials as well as establish a strong effect of miglustat on inflammation markers.