Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria
Ubaldi, Francesca, Frangella, Claudia, Volpini, Veronica, Fortugno, Paola, Valeriani, Federica, Romano Spica, Vincenzo
Published in International journal of molecular sciences (13.12.2023)
Published in International journal of molecular sciences (13.12.2023)
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Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
Fortugno, Paola, Angelucci, Francesco, Cestra, Gianluca, Camerota, Letizia, Ferraro, Angelo Salvatore, Cordisco, Sonia, Uccioli, Luigi, Castiglia, Daniele, Angelis, Barbara, Kurth, Ingo, Kornak, Uwe, Brancati, Francesco
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Proteolytic Activation Cascade of the Netherton Syndrome–Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis
Fortugno, Paola, Bresciani, Alberto, Paolini, Chantal, Pazzagli, Chiara, El Hachem, May, D'Alessio, Marina, Zambruno, Giovanna
Published in Journal of investigative dermatology (01.11.2011)
Published in Journal of investigative dermatology (01.11.2011)
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Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis
Laksono, Brigitta M, Fortugno, Paola, Nijmeijer, Bernadien M, de Vries, Rory D, Cordisco, Sonia, Kuiken, Thijs, Geijtenbeek, Teunis B H, Duprex, W Paul, Brancati, Francesco, de Swart, Rik L
Published in PLoS pathogens (08.10.2020)
Published in PLoS pathogens (08.10.2020)
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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
Daly, Adrian F, Dunnington, Leslie A, Rodriguez-Buritica, David F, Spiegel, Erica, Brancati, Francesco, Mantovani, Giovanna, Rawal, Vandana M, Faucz, Fabio Rueda, Hijazi, Hadia, Caberg, Jean-Hubert, Nardone, Anna Maria, Bengala, Mario, Fortugno, Paola, Del Sindaco, Giulia, Ragonese, Marta, Gould, Helen, Cannavò, Salvatore, Pétrossians, Patrick, Lania, Andrea, Lupski, James R, Beckers, Albert, Stratakis, Constantine A, Levy, Brynn, Trivellin, Giampaolo, Franke, Martin
Published in Genome medicine (13.09.2024)
Published in Genome medicine (13.09.2024)
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Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function
Fortugno, Paola, Condorelli, Angelo Giuseppe, Dellambra, Elena, Guerra, Liliana, Cianfarani, Francesca, Tinaburri, Lavinia, Proto, Vittoria, De Luca, Naomi, Passarelli, Francesca, Ricci, Francesca, Zambruno, Giovanna, Castiglia, Daniele
Published in International journal of molecular sciences (20.02.2020)
Published in International journal of molecular sciences (20.02.2020)
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Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
Brancati, Francesco, Fortugno, Paola, Bottillo, Irene, Lopez, Marc, Josselin, Emmanuelle, Boudghene-Stambouli, Omar, Agolini, Emanuele, Bernardini, Laura, Bellacchio, Emanuele, Iannicelli, Miriam, Rossi, Alfredo, Dib-Lachachi, Amina, Stuppia, Liborio, Palka, Giandomenico, Mundlos, Stefan, Stricker, Sigmar, Kornak, Uwe, Zambruno, Giovanna, Dallapiccola, Bruno
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin
Arseni, Lavinia, Lanzafame, Manuela, Compe, Emmanuel, tugno, Paola, Afonso-Barroso, António, Peverali, Fiorenzo A, Lehmann, Alan R, Zambruno, Giovanna, Egly, Jean-Marc, Stefanini, Miria, Orioli, Donata
Published in Proceedings of the National Academy of Sciences - PNAS (03.02.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (03.02.2015)
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Regulation of Survivin Function by Hsp90
Fortugno, Paola, Beltrami, Elena, Plescia, Janet, Fontana, Jason, Pradhan, Deepti, Marchisio, Pier Carlo, Sessa, William C., Altieri, Dario C.
Published in Proceedings of the National Academy of Sciences - PNAS (25.11.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (25.11.2003)
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p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis
Mollo, Maria Rosaria, Antonini, Dario, Mitchell, Karen, Fortugno, Paola, Costanzo, Antonio, Dixon, Jill, Brancati, Francesco, Missero, Caterina
Published in Experimental dermatology (01.02.2015)
Published in Experimental dermatology (01.02.2015)
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Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations
Guerra, Liliana, Giuseppe Condorelli, Angelo, Fortugno, Paola, Calabresi, Valentina, Pedicelli, Cristina, Di Zenzo, Giovanni, Castiglia, Daniele
Published in Acta dermato-venereologica (01.01.2018)
Published in Acta dermato-venereologica (01.01.2018)
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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
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Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations
Kiritsi, Dimitra, MD, Valari, Manthoula, MD, Fortugno, Paola, PhD, Hausser, Ingrid, PhD, Lykopoulou, Lilia, MD, Zambruno, Giovanna, MD, Fischer, Judith, MD, PhD, Bruckner-Tuderman, Leena, MD, Jakob, Thilo, MD, Has, Cristina, MD
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Survivin exists in immunochemically distinct subcellular pools and is involved in spindle microtubule function
Fortugno, Paola, Wall, Nathan R, Giodini, Alessandra, O'Connor, Daniel S, Plescia, Janet, Padgett, Karen M, Tognin, Simona, Marchisio, Pier Carlo, Altieri, Dario C
Published in Journal of cell science (01.02.2002)
Published in Journal of cell science (01.02.2002)
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Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review
Guerra, Liliana, Fortugno, Paola, Sinistro, Anna, Proto, Vittoria, Zambruno, Giovanna, Didona, Biagio, Castiglia, Daniele
Published in Journal of dermatology (01.08.2015)
Published in Journal of dermatology (01.08.2015)
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Journal Article
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
Fortugno, Paola, Grosso, Fabiana, Zambruno, Giovanna, Pastore, Serena, Faletra, Flavio, Castiglia, Daniele
Published in Journal of human genetics (01.05.2012)
Published in Journal of human genetics (01.05.2012)
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Intracellular targets of RGDS peptide in melanoma cells
Aguzzi, Maria Simona, Fortugno, Paola, Giampietri, Claudia, Ragone, Gianluca, Capogrossi, Maurizio C, Facchiano, Antonio
Published in Molecular cancer (22.04.2010)
Published in Molecular cancer (22.04.2010)
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Induction of anti-carbohydrate antibodies by phage library-selected peptide mimics
Phalipon, A, Folgori, A, Arondel, J, Sgaramella, G, Fortugno, P, Cortese, R, Sansonetti, P J, Felici, F
Published in European journal of immunology (01.10.1997)
Published in European journal of immunology (01.10.1997)
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Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1)
Pascolini, Giulia, Fortugno, Paola, Chandramouli, Balasubramanian, Didona, Biagio, Castiglia, Daniele
Published in EJD. European journal of dermatology (01.10.2023)
Published in EJD. European journal of dermatology (01.10.2023)
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