Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Andrea Codispoti"'
Autor:
Michela Giustizieri, Alessandro Terrinoni, Valeria Serra, Elena Campione, Marco Alessandrini, Andrea Codispoti, Robert Nisticò, Biagio Didona, Ernesto Bruno, Gerry Melino
Publikováno v:
Biochemical and Biophysical Research Communications. 394:909-914
The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. The Cx26 protein is a component of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dfd0349a3edfab4aa06620c72b3cf49
https://doi.org/10.1016/j.bbrc.2010.03.073
https://doi.org/10.1016/j.bbrc.2010.03.073
Autor:
Gerry Melino, Jean-Christophe Bourdon, Andrea Codispoti, Loredana Zocchi, David P. Lane, Richard A. Knight, Alessandro Terrinoni
Publikováno v:
Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, 2008, 367 (2), pp.271-6. ⟨10.1016/j.bbrc.2007.12.115⟩
Biochemical and Biophysical Research Communications, 2008, 367 (2), pp.271-6. ⟨10.1016/j.bbrc.2007.12.115⟩
International audience; p63, a member of the p53 family, is transcribed from two different promoters giving rise to two different proteins: TAp63 that contains the N-terminal transactivation domain and DeltaN that lacks this domain. In this article w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01fab4af429a340966823dc98041baa5
Autor:
Luca Bianchi, Augusto Orlandi, Annamaria Mazzotta, Sergio Chimenti, Alessandro Terrinoni, A. Ludovici, Elena Campione, Andrea Codispoti, Francesco Garaci, Gerry Melino
Publikováno v:
Journal of Investigative Dermatology. 127:2271-2273
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6cec6ec6caa78a7aa9ae16326c0d42
https://doi.org/10.1038/sj.jid.5700851
https://doi.org/10.1038/sj.jid.5700851
Autor:
Giovanna Zambruno, Biagio Didona, Ramona Palombo, Gerry Melino, L Bui, Margherita Annicchiarico-Petruzzelli, Andrea Codispoti, E Candi, Valeria Serra, Alessandro Terrinoni, E Talamonti, Elena Campione, Marco Sette
Publikováno v:
Cell Death & Disease
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b247d97ab20f29a252ec47678960d42f
http://hdl.handle.net/2108/78291
http://hdl.handle.net/2108/78291
Autor:
Andrea Codispoti, Ernesto Bruno, Laura Diluvio, Steven Paul Nistico, Biagio Didona, Gerry Melino, Alessandro Terrinoni, Elena Campione, B Napolitano, Mauro Paradisi, Valeria Serra
KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. KID syndrome is inherited as an autosomic dominant disease, due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e33b3b632198ff2bd4a47defed0dc3
http://hdl.handle.net/2108/19254
http://hdl.handle.net/2108/19254
Autor:
Loredana Zocchi, Andrea Codispoti, Monica Celi, Gerry Melino, Umberto Tarantino, Francesco Oliva, Nicola Maffulli, Eleonora Candi
The ethiopathogenesis of rotator cuff disease remains poorly understood. Many studies advocate the importance of extra cellular matrix for the homeostasis of connective tissue. Transglutaminase enzymes family has been studied in the context of connec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d8944b0963d297651d03f9fba33587
http://hdl.handle.net/2108/40257
http://hdl.handle.net/2108/40257
Autor:
Alessandro Terrinoni, Carlo Dionisi-Vici, Gael Carney, Giovanna Zambruno, Mauro Paradisi, Enrico Bertini, Wiliam B. Rizzo, Cristina Pedicelli, Gerry Melino, Biagio Didona, Andrea Codispoti
Sjögren–Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long-chai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9dbc6a57011ca22874d0e016002bcb9
http://hdl.handle.net/2108/30422
http://hdl.handle.net/2108/30422
Autor:
Giorgio Leigheb, Alessandro Terrinoni, Riccardo Zuccoli, Gerry Melino, Ginevra Pertusi, Elena Campione, Rossana Tiberio, Antonio Ramponi, Enrico Colombo, Guido Bornacina, Andrea Codispoti, Loredana Zocchi, Valeria Serra
Publikováno v:
ResearcherID
Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. To date, a number of KRT9 muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2438720bcc30933ba093b80a914a2a3
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000264237100002&KeyUID=WOS:000264237100002
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000264237100002&KeyUID=WOS:000264237100002
Autor:
Didona, Biagio1, Codispoti, Andrea2, Bertini, Enrico3, Rizzo, Wiliam4, Carney, Gael4, Zambruno, Giovanna5, Dionisi-Vici, Carlo3, Paradisi, Mauro6, Pedicelli, Cristina6, Melino, Gerry gerry.melino@uniroma2.it, Terrinoni, Alessandro2 alessandro.terrinoni@uniroma2.it
Publikováno v:
Journal of Human Genetics. Oct2007, Vol. 52 Issue 10, p865-870. 6p. 1 Chart, 2 Graphs.