Browsing by Author "Boniotto, Michele"
Now showing items 1-4 of 4
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Holistic health record for Hidradenitis suppurativa patients.
Tricarico, Paola Maura; Moltrasio, Chiara; Gradišek, Anton; Marzano, Angelo V; Flacher, Vincent; Boufenghour, Wacym; von Stebut, Esther; Schmuth, Matthias; Jaschke, Wolfram; Gams, Matjaž; Boniotto, Michele; Crovella, Sergio... more authors ... less authors ( Nature Research , 2022 , Article)Hidradenitis suppurativa (HS) is a recurrent inflammatory skin disease with a complex etiopathogenesis whose treatment poses a challenge in the clinical practice. Here, we present a novel integrated pipeline produced by ... -
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 ... -
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 ... -
Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
Marzano, Angelo Valerio; Genovese, Giovanni; Moltrasio, Chiara; Tricarico, Paola Maura; Gratton, Rossella; Piaserico, Stefano; Garcovich, Simone; Boniotto, Michele; Brandão, Lucas; Moura, Ronald; Crovella, Sergio... more authors ... less authors ( Karger Publishers , 2022 , Article)The genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated. To describe ...