Browsing by Author "Moura, Ronald Rodrigues de"
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A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis
Tricarico, Paola Maura; Gratton, Rossella; Santos-Silva, Carlos André dos; Moura, Ronald Rodrigues de; Ura, Blendi; Sommella, Eduardo; Campiglia, Pietro; Del Vecchio, Cecilia; Moltrasio, Chiara; Berti, Irene; D’Adamo, Adamo Pio; Elsherbini, Ahmed M.A.; Staudenmaier, Lena; Chersi, Karin; Boniotto, Michele; Krismer, Bernhard; Schittek, Birgit; Crovella, Sergio... more authors ... less authors ( Frontiers Media , 2022 , Article)Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent ... -
Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders through Whole Exome Sequencing Analysis.
Brandão, Lucas André Cavalcanti; Moura, Ronald Rodrigues de; Marzano, Angelo Valerio; Moltrasio, Chiara; Tricarico, Paola Maura; Crovella, Sergio... more authors ... less authors ( MDPI , 2022 , Article)The challenge of unravelling the molecular basis of multifactorial disorders nowadays cannot rely just on association studies searching for potential causative variants shared by groups of patients and not present in healthy ...