Browsing by Author "Moura, Ronald"
Now showing items 1-6 of 6
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Clinical and molecular characterization of hidradenitis suppurativa: a practical framework for novel therapeutic targets.
Moltrasio, Chiara; Tricarico, Paola Maura; Moura, Ronald; Brandao, Lucas André Cavalcanti; Crovella, Sergio; Marzano, Angelo Valerio... more authors ... less authors ( Karger Publishers , 2023 , Report)Background: The pathophysiological picture underlying hidradenitis suppurativa (HS) and its syndromic forms is still patchy, thus presenting a great challenge for dermatologists and researchers since just by better ... -
Full-house nephropathy associated with high expression of SPATA5L1 due to a genetic pathogenic variant
De Carvalho, Luciana Martins; De Sousa, Graziella Ribeiro; Moura, Ronald; Saggioro, Fabiano; Facincani, Inalda; Costa, Roberto; Kahwage, Paola Pinheiro; De Paula Queiroz, Rosane Gomes; Valera, Elvis Terci; Crovella, Sergio; Sandrin-Garcia, Paula... more authors ... less authors ( Oxford University Press , 2022 , Article)DEAR EDITOR, Non-lupus full-house nephropathy is a diagnostic challenge of yet unknown aetiology that does not satisfy criteria for SLE classification . Spermatogenesis-associated protein 5-like protein 1 (SPATA5L1) is ... -
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 ... -
Multiomics integration in skin diseases with alterations in notch signaling pathway: PlatOMICs phase 1 deployment
Brandão, Lucas André Cavalcanti; Tricarico, Paola Maura; Gratton, Rossella; Agrelli, Almerinda; Zupin, Luisa; Abou-Saleh, Haissam; Moura, Ronald; Crovella, Sergio... more authors ... less authors ( MDPI , 2021 , Article Review)The high volume of information produced in the age of omics was and still is an important step to understanding several pathological processes, providing the enlightenment of complex molecular networks and the identification ... -
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, ... -
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 ...