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Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
Odorisio T, Di Salvio M, Orecchia A, Di Zenzo G, Piccinni E, Cianfarani F, Travaglione A, Uva P, Bellei B, Conti A, Zambruno G, Castiglia D. Odorisio T, et al. Among authors: orecchia a. Hum Mol Genet. 2014 Aug 1;23(15):3907-22. doi: 10.1093/hmg/ddu102. Epub 2014 Mar 5. Hum Mol Genet. 2014. PMID: 24599399
Gene correction of integrin beta4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for beta4 tyrosines 1422 and 1440 in hemidesmosome assembly.
Dellambra E, Prislei S, Salvati AL, Madeddu ML, Golisano O, Siviero E, Bondanza S, Cicuzza S, Orecchia A, Giancotti FG, Zambruno G, De Luca M. Dellambra E, et al. Among authors: orecchia a. J Biol Chem. 2001 Nov 2;276(44):41336-42. doi: 10.1074/jbc.M103139200. Epub 2001 Aug 24. J Biol Chem. 2001. PMID: 11522777 Free article.
26 results