Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy.
Fiche publication
Date publication
janvier 2020
Journal
Journal of dermatological science
Auteurs
Membres identifiés du Cancéropôle Est :
Dr EGLY Jean-Marc, Dr COMPE Emmanuel
Tous les auteurs :
Hashimoto S, Takanari H, Compe E, Egly JM
Lien Pubmed
Résumé
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterised by brittle hairs and various systemic symptoms, including photosensitivity and ichthyosis. While photosensitivity could result from DNA repair defects, other TTD clinical features might be due to deficiencies in certain molecular processes.
Mots clés
Ichthyosis, LXR, Trichothiodystrophy
Référence
J. Dermatol. Sci.. 2020 Jan 24;: