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Nectinopathies: an emerging group of ectodermal dysplasia syndromes 1-gen-2013 Brancati, F; Agolini, E; Fortugno, P
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5 1-gen-2013 Diociaiuti, Andrea; Castiglia, Daniele; Fortugno, Paola; Bartuli, Andrea; Pascucci, Monica; Zambruno, Giovanna; El Hachem, May
Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation 1-gen-2013 Diociaiuti, Andrea; Castiglia, Daniele; Morini, Francesco; Boldrini, Renata; Fortugno, Paola; Zambruno, Giovanna; El Hachem, May
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation 1-gen-2014 Fortugno, Paola; Josselin, Emmanuelle; Tsiakas, Konstantinos; Agolini, Emanuele; Cestra, Gianluca; Teson, Massimo; Santer, René; Castiglia, Daniele; Novelli, Giuseppe; Dallapiccola, Bruno; Kurth, Ingo; Lopez, Marc; Zambruno, Giovanna; Brancati, Francesco
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10 1-gen-2014 Diociaiuti, Andrea; Fortugno, Paola; El Hachem, May; Angelo, Corrado; Proto, Vittoria; De Luca, Naomi; Martinelli, Diego; Boldrini, Renata; Castiglia, Daniele; Zambruno, Giovanna
A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration 1-gen-2014 Di Zenzo, G; El Hachem, M; Diociaiuti, A; Boldrini, R; Calabresi, V; Cianfarani, F; Fortugno, P; Piccinni, E; Zambruno, G; Castiglia, D
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations 1-gen-2015 Kiritsi, Dimitra; Valari, Manthoula; Fortugno, Paola; Hausser, Ingrid; Lykopoulou, Lilia; Zambruno, Giovanna; Fischer, Judith; Bruckner-Tuderman, Leena; Jakob, Thilo; Has, Cristina
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 1-gen-2015 Mollo, Maria Rosaria; Antonini, Dario; Mitchell, Karen; Fortugno, Paola; Costanzo, Antonio; Dixon, Jill; Brancati, Francesco; Missero, Caterina
Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree 1-gen-2015 El Hachem, May; Diociaiuti, Andrea; Proto, Vittoria; Fortugno, Paola; Zambruno, Giovanna; Castiglia, Daniele; Naim, Majdy
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome 1-gen-2015 Guerra, Liliana; Fortugno, Paola; Pedicelli, Cristina; Mazzanti, Cinzia; Proto, Vittoria; Zambruno, Giovanna; Castiglia, Daniele
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review 1-gen-2015 Guerra, Liliana; Fortugno, Paola; Sinistro, Anna; Proto, Vittoria; Zambruno, Giovanna; Didona, Biagio; Castiglia, Daniele
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element 1-gen-2015 Dal Mas, Andrea; Fortugno, Paola; Donadon, Irving; Levati, Lauretta; Castiglia, Daniele; Pagani, Franco
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes 1-gen-2015 Lanzafame, Manuela; Botta, Elena; Teson, Massimo; Fortugno, Paola; Zambruno, Giovanna; Stefanini, Miria; Orioli, Donata
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin 1-gen-2015 Arseni, Lavinia; Lanzafame, Manuela; Compe, Emmanuel; Fortugno, Paola; Afonso-Barroso, António; Peverali, Fiorenzo A; Lehmann, Alan R; Zambruno, Giovanna; Egly, Jean-Marc; Stefanini, Miria; Orioli, Donata
Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response 1-gen-2016 El Hachem, Maya; Fortugno, Paola; Palmeri, Antonio; Helmer-Citterich, Manuela; Diociaiuti, Andrea; Proto, Vittoria; Boldrini, Renata; Zambruno, Giovanna; Castiglia, Daniele
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome 1-gen-2016 Numata, Sanae; Teye, Kwesi; Krol, Rafal P; Okamatsu, Yuki; Hashikawa, Keiko; Matsuda, Mitsuhiro; Fortugno, Paola; Di Zenzo, Giovanni; Castiglia, Daniele; Zambruno, Giovanna; Hamada, Takahiro; Hashimoto, Takashi
Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm 1-gen-2018 Condorelli, A G; Fortugno, P; Cianfarani, F; Proto, V; Di Zenzo, G; Didona, B; Zambruno, G; Castiglia, D
Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicing 1-gen-2018 Pianigiani, Giulia; Licastro, Danilo; Fortugno, Paola; Castiglia, Daniele; Petrovic, Ivana; Pagani, Franco
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations 1-gen-2018 Guerra, Liliana; Condorelli, Angelo Giuseppe; Fortugno, Paola; Calabresi, Valentina; Pedicelli, Cristina; Di Zenzo, Giovanni; Castiglia, Daniele
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI 1-gen-2019 Fortugno, Paola; Angelucci, Francesco; Cestra, Gianluca; Camerota, Letizia; Ferraro, Angelo Salvatore; Cordisco, Sonia; Uccioli, Luigi; Castiglia, Daniele; De Angelis, Barbara; Kurth, Ingo; Kornak, Uwe; Brancati, Francesco
Mostrati risultati da 21 a 40 di 52
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