Výsledky vyhledávání - "Gabriel Pitollat"

Akademický článek

Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome

Autor: Chiara Africano, Tiziana Bachetti, Paolo Uva, Gabriel Pitollat, Genny Del Zotto, Francesca Giacopelli, Giada Recchi, Nicolas Lenfant, Amélia Madani, Nathan Beckouche, Muriel Thoby-Brisson, Isabella Ceccherini

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102319- (2024)

Congenital central hypoventilation syndrome (CCHS), a rare genetic disease caused by heterozygous PHOX2B mutations, is characterized by life-threatening breathing deficiencies. PHOX2B is a transcription factor required for the specification of the au

Externí odkaz: https://doaj.org/article/23bd66697de441dbbe708623068110a6

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Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome

Autor: Boris Matrot, Gabriel Pitollat, Maud Ringot, Christophe Delclaux, Stéphane Dauger, Jorge Gallego, Thomas Bourgeois, Marie-Pia d'Ortho, Laura Cardoit, Muriel Thoby-Brisson, Amélia Madani, Nelina Ramanantsoa, Eléonore Sizun

Publikováno v: American Journal of Respiratory and Critical Care Medicine
American Journal of Respiratory and Critical Care Medicine, 2021, 204 (10), pp.1200-1210. ⟨10.1164/rccm.202104-0887OC⟩

RationaleCongenital Central Hypoventilation Syndrome (CCHS) is characterized by life-threatening sleep hypoventilation, and is caused by PHOX2B gene mutations, most frequently the PHOX2B27Ala/+ mutation, with patients requiring lifelong ventilatory s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04fe9310dffaaa007e8480cf40039334
https://doi.org/10.1164/rccm.202104-0887oc

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