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Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Bullosa Condorelli, Angelo Giuseppe; Nobili, Rebecca; Muglia, Anita; Scarpelli, Giorgia; Marzuolo, Elisa; De Stefanis, Cristiano; Rota, Rossella; Diociaiuti, Andrea; Alaggio, Rita; Castiglia, Daniele; Odorisio, Teresa; El Hachem, May; Zambruno, Giovanna 分享 收藏
Histone deacetylase inhibition mitigates fibrosis-driven disease progression in recessive dystrophic epidermolysis bullosa Primerano, Alessia; De Domenico, Emanuela; Cianfarani, Francesca; De Luca, Naomi; Floriddia, Giovanna; Teson, Massimo; Cristofoletti, Cristina; Cardarelli, Silvia; Scaglione, Giovanni Luca; Baldini, Enke; Cangelosi, Davide; Uva, Paolo; Sanchez, Jonathan Fernando Reinoso; Roubaty, Carole; Dengjel, Joern; Nystroem, Alexander; Mastroeni, Simona; Ulisse, Salvatore; Castiglia, Daniele; Odorisio, Teresa 分享 收藏
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RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Dellambra, Elena; Cordisco, Sonia; Delle Monache, Francesca; Bondanza, Sergio; Teson, Massimo; Nicodemi, Ezio Maria; Didona, Biagio; Condorelli, Angelo Giuseppe; Camerino, Giovanna; Castiglia, Daniele; Guerra, Liliana 分享 收藏
A multicenter study on quality of life of the greater patient in congenital ichthyoses 先天性鱼鳞病大患者生活质量的多中心研究 Abeni, Damiano; Rotunno, Roberta; Diociaiuti, Andrea; Giancristoforo, Simona; Bonamonte, Domenico; Schepis, Carmelo; Neri, Iria; Castiglia, Daniele; Zambruno, Giovanna; El Hachem, May 分享 收藏
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Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up Rossi, S.; Castiglia, D.; Pisaneschi, E.; Diociaiuti, A.; Stracuzzi, A.; Cesario, C.; Mariani, R.; Floriddia, G.; Zambruno, G.; Boldrini, R.; Abeni, D.; Novelli, A.; Alaggio, R.; El Hachem, M. 分享 收藏
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study Abeni, Damiano; Rotunno, Roberta; Diociaiuti, Andrea; Giancristoforo, Simona; Bonamonte, Domenico; Filoni, Angela; Schepis, Carmelo; Siragusa, Maddalena; Neri, Iria; Virdi, Annalucia; Castiglia, Daniele; Zambruno, Giovanna; Bodemer, Christine; El Hachem, May 分享 收藏
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Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly Fortugno, P.; Monetta, R.; Angelucci, F.; Camerota, L.; Botti, E.; Moretti, F.; Bianchi, L.; Didona, B.; Castiglia, D.; Brancati, F. 分享 收藏
Molecular and mutational signatures of squamous cell carcinomas in epidermolysis bullosa Lu, S.; Hess, M. E.; Reimer, A.; Castiglia, D.; He, Y.; Rafei-Shamsabadi, D. A.; Bubnoff, D. V.; Meiss, F.; Boerries, M.; Has, C. 分享 收藏
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients Guerrero-Aspizua, Sara; Conti, Claudio J.; Jose Escamez, Maria; Castiglia, Daniele; Zambruno, Giovanna; Youssefian, Leila; Vahidnezhad, Hassan; Requena, Luis; Itin, Peter; Tadini, Gianluca; Yordanova, Ivelina; Martin, Ludovic; Uitto, Jouni; Has, Cristina; Del Rio, Marcela 分享 收藏
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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy Schwieger-Briel, Agnes; Fuentes, Ignacia; Castiglia, Daniele; Barbato, Antonio; Greutmann, Matthias; Leppert, Juna; Duchatelet, Sabine; Hovnanian, Alain; Burattini, Sofia; Yubero, M. Joao; Ibanez-Arenas, Rodrigo; Rebolledo-Jaramillo, Boris; Grani, Christoph; Ott, Hagen; Theiler, Martin; Weibel, Lisa; Paller, Amy S.; Zambruno, Giovanna; Fischer, Judith; Palisson, Francis; Has, Cristina 分享 收藏
Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases El Hachem, May; Barresi, Sabina; Diociaiuti, Andrea; Boldrini, Renata; Condorelli, Angelo Giuseppe; Capoluongo, Ettore; Proto, Vittoria; Scuvera, Giulietta; Has, Cristina; Tartaglia, Marco; Castiglia, Daniele 分享 收藏
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene Guerra, Liliana; Bergamo, Fabio; D'Apice, Maria Rosaria; Angelucci, Francesco; Di Girolamo, Stefano; Camerota, Letizia; Monetta, Rosanna; Annessi, Giorgio; Castiglia, Daniele; Novelli, Giuseppe; Paradisi, Mauro; Brancati, Francesco 分享 收藏