تصفح حسب المؤلف "de Oliveira, Ana Sofia Lima Estevao"
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A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa
de Oliveira, Ana Sofia Lima Estevao; de Siqueira, Roberta Cardoso; Nait-Meddour, Cécile; Tricarico, Paola Maura; Moura, Ronald; Agrelli, Almerinda; d'Adamo, Adamo Pio; Jamain, Stéphane; Crovella, Sergio; de Fátima Medeiros Brito, Maria; Boniotto, Michele; Brandão, Lucas André Cavalcanti... more authors ... less authors ( Wiley , 2023 , Article)Dowling Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by acquired, slowly progressive reticulated pigmented lesions primarily involving flexural skin areas. Mutations in KRT5, POGLUT-1 and ... -
Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
de Oliveira, Ana Sofia Lima Estevao; Bloise, Giovanna; Moltrasio, Chiara; Coelho, Antonio; Agrelli, Almerinda; Moura, Ronald; Tricarico, Paola Maura; Jamain, Stéphane; Marzano, Angelo Valerio; Crovella, Sergio; Cavalcanti Brandão, Lucas André... more authors ... less authors ( MDPI , 2022 , Article)Hidradenitis suppurativa (HS) is an inflammatory skin condition clinically characterized by recurrent painful deep-seated nodules, abscesses, and sinus tracks in areas bearing apocrine glands, such as axillae, breasts, ...