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A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia

Autor: Marina D'Alessio, Laura Ruzzi, Mari Pinola, Giovanna Zambruno, Laurent Gagnoux-Palacios, Guerrino Meneguzzi, Serena Belli

Publikováno v: Journal of Clinical Investigation. 99:2826-2831

The alpha6 integrin subunit participates in the formation of both alpha6beta1 and alpha6beta4 laminin receptors, which have been reported to play an important role in cell adhesion and migration and in morphogenesis. In squamous epithelia, the alpha6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f830acf4ca3cc2ca1a4a444173a9ac
https://doi.org/10.1172/jci119474

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α2,3-Sialyl and α1,3-fucosyltransferase-dependent synthesis of sialyl Lewis x, an essential oligosaccharide present on L-selectin counterreceptors, in cultured endothelial cells

Autor: Risto Renkonen, Jari Natunen, Mari Pinola, Marja-Leena Majuri, Ritva Niemelä, Ossi Renkonen, Sinikka Tiisala

Publikováno v: European Journal of Immunology. 24:3205-3210

Sialyl Lewis x (sLex) oligosaccharides have been shown to be present in counterreceptors for L-selectin. We and others have previously shown that high endothelial cells in lymph nodes and at sites of inflammation express sLex. Here we show that also

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::272fa5d0477303e4ed985c3eff7d8b7b
https://doi.org/10.1002/eji.1830241244

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Lopinavir/ritonavir + tenofovir Dual Therapy versus Lopinavir/ritonavir-Based Triple Therapy in HIV-Infected Antiretroviral Naïve Subjects: The Kalead Study

Autor: Giampiero Carosi, Michael Norton, Giovanni Di Perri, Andrea Antinori, Mauro Moroni, Mari Pinola, Giuseppe Pastore, Vincenzo Vullo, Umberto di Luzio Paparatti, Adriano Lazzarin

Publikováno v: Journal of Antivirals & Antiretrovirals.

Purpose: With reference to the clinical need for simple, potent and safe antiretroviral regimens, Lopinavir/ ritonavir + tenofovir (LPV/r+TDF) two-drug initial regimen was studied for efficacy and safety in HIV-infected patients. Methods: Kalead was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::134f7c45e0dd4fb3ca712c82b9a9a467
https://doi.org/10.4172/jaa.1000024

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Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition

Autor: Guerrino Meneguzzi, C. Angelo, Mari Pinola, Giovanna Zambruno, Daniele Castiglia, Patrizia Posteraro, Flavia Spirito, Pietro Puddu

Publikováno v: The Journal of investigative dermatology. 117(3)

Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the three genes (LAMA3, LAMB3, LAMC2) encoding the laminin-5 chains cause junctional epidermolysis bullosa, a clinically and genetically heterogeneous blistering skin disease. H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2617030a538a2acfabb1b2f6339f56d7
https://pubmed.ncbi.nlm.nih.gov/11564184

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Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia

Autor: Christine Roméro, Giovanna Zambruno, Guerrino Meneguzzi, M. De Luca, Laurent Gagnoux-Palacios, Ortonne Jp, Elena Dellambra, Mari Pinola, Joëlle Vailly

Herlitz junctional epidermolysis bullosa (H-JEB) provides a promising model for somatic gene therapy of heritable mechano-bullous disorders. This genodermatosis is caused by the lack of laminin-5 that results in absence of hemidesmosomes (HD) and def

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d799f6c5352b54edb9231bb37b053d5c
https://hdl.handle.net/11380/1070512