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TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M, Orioli D. Arseni L, et al. Among authors: fortugno p. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1499-504. doi: 10.1073/pnas.1416181112. Epub 2015 Jan 20. Proc Natl Acad Sci U S A. 2015. PMID: 25605938 Free PMC article.
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
Diociaiuti A, Castiglia D, Fortugno P, Bartuli A, Pascucci M, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: fortugno p. Pediatr Dermatol. 2013 Jul-Aug;30(4):e65-7. doi: 10.1111/pde.12076. Epub 2013 Jan 17. Pediatr Dermatol. 2013. PMID: 23331056
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F. Fortugno P, et al. J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577405 Free article.
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D, Valari M, Fortugno P, Hausser I, Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C. Kiritsi D, et al. Among authors: fortugno p. J Allergy Clin Immunol. 2015 Jan;135(1):280-3. doi: 10.1016/j.jaci.2014.09.042. Epub 2014 Nov 11. J Allergy Clin Immunol. 2015. PMID: 25458912 No abstract available.
51 results