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William Piterboth
Researcher at University of Paris
Publications - 11
Citations - 347
William Piterboth is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Mutation. The author has an hindex of 5, co-authored 6 publications receiving 266 citations. Previous affiliations of William Piterboth include French Institute of Health and Medical Research.
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Journal ArticleDOI
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Esther Kott,Marie Legendre,Bruno Copin,Jean-François Papon,Florence Dastot-Le Moal,Guy Montantin,Philippe Duquesnoy,William Piterboth,Daniel Amram,Laurence Bassinet,Julie Beucher,Nicole Beydon,E. Deneuville,Véronique Houdouin,Hubert Journel,Jocelyne Just,Nadia Nathan,Aline Tamalet,Nathalie Collot,Ludovic Jeanson,Morgane Le Gouez,Benoit Vallette,Anne-Marie Vojtek,Ralph Epaud,André Coste,Annick Clement,Bruno Housset,Bruno Louis,Estelle Escudier,Serge Amselem +29 more
TL;DR: RSPH 1 mutations appear as a major etiology for this PCD phenotype, which in fact includes RS defects, thereby unveiling the importance of RSPH1 in the proper building of CCs and RSs in humans.
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Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation
Fawaz Awad,Eman Assrawi,Claire Jumeau,Sophie Georgin-Lavialle,Laetitia Cobret,Philippe Duquesnoy,William Piterboth,Lucie Thomas,Katia Stankovic-Stojanovic,Camille Louvrier,Irina Giurgea,Gilles Grateau,Serge Amselem,Sonia Karabina +13 more
TL;DR: A key results of this study is that the induction of NLRP3 expression by LPS is inhibited in the presence of IL-4+IL-13 (M2 phenotype) at both mRNA and protein level in monocytes and macrophages, providing the basis for a better understanding of the role of different inflammasomes within a given environment in human cells.
Journal ArticleDOI
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
Camille Louvrier,Eman Assrawi,Elma El Khouri,Isabelle Melki,Bruno Copin,Emmanuelle Bourrat,Noémie Lachaume,Bérengère Cador-Rousseau,Philippe Duquesnoy,William Piterboth,Fawaz Awad,Claire Jumeau,Marie Legendre,G. Grateau,S. Georgin-Lavialle,Sonia Karabina,Serge Amselem,Irina Giurgea +17 more
TL;DR: The phenotypic spectrum of NLRP3-AIDs appears to be related to the germinal/mosaic status and localization of the underlying mutations, which suggests that mutations found only in mosaic state could be incompatible with life if present in Germinal state.
Journal ArticleDOI
Somatic mosaic NLRP3 mutations and inflammasome activation in late-onset chronic urticaria.
Eman Assrawi,Camille Louvrier,Clémence Lepelletier,Sophie Georgin-Lavialle,Jean-David Bouaziz,Fawaz Awad,Fawaz Awad,Florence Moinet,Philippe Moguelet,Marie Dominique Vignon-Pennamen,William Piterboth,Claire Jumeau,Laetitia Cobret,Elma El Khouri,Bruno Copin,Philippe Duquesnoy,Marie Legendre,Gilles Grateau,Sonia Karabina,Serge Amselem,Irina Giurgea +20 more
TL;DR: It is unveiled that in late-onset chronic urticaria, the search for autoinflammatory markers and somatic mosaic NLRP3 mutations may have important diagnostic and therapeutic consequences.
Journal ArticleDOI
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism
Nabila Fritez,Marie-Laure Sobrier,Hinde Iraqi,Marie-Pierre Vie-Luton,Irene Netchine,Abdessamad El Annas,Jacques Pantel,Nathalie Collot,Sophie Rose,William Piterboth,Marie Legendre,Abdelmjid Chraïbi,Serge Amselem,Abdelkrim Kadiri,Latifa Hilal +14 more
TL;DR: This work aimed to document the molecular basis of growth retardation in a Moroccan cohort by documenting the cause and treatment ofCongenital hypopituitarism.