المؤلفون: Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Bican, Anna, Phillips, John A., Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Rosenfeld, Jill A., Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, Zara, Federico, Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael

المساهمون: Fondazione Compagnia di San Paolo, NIH Common Fund, Rosetrees Trust, Ministero della Salute

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 529-543 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.02.001
https://api.elsevier.com/content/article/PII:S0002929724000338?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000338?httpAccept=text/plain

المؤلفون: Tomati, Valeria, Capurro, Valeria, Pesce, Emanuela, Pastorino, Cristina, Sondo, Elvira, Lena, Mariateresa, Borrelli, Anna, Cresta, Federico, Pantano, Stefano, Collini, Francesca, Ripani, Pietro, Terlizzi, Vito, Fevola, Cristina, Costa, Stefano, Lucanto, Maria Cristina, Zara, Federico, Bandiera, Tiziano, Bocciardi, Renata, Castellani, Carlo, Galietta, Luis J. V.

المصدر: Frontiers in Pharmacology; 2024, p1-14, 14p

مصطلحات موضوعية: CYSTIC fibrosis transmembrane conductance regulator, CYSTIC fibrosis, EPITHELIAL cells, GENETIC disorders, EPITHELIUM

المؤلفون: Tomati, Valeria, Costa, Stefano, Capurro, Valeria, Pesce, Emanuela, Pastorino, Cristina, Lena, Mariateresa, Sondo, Elvira, Di Duca, Marco, Cresta, Federico, Cristadoro, Simona, Zara, Federico, Galietta, Luis Juan Vicente, Bocciardi, Renata, Castellani, Carlo, Lucanto, Maria Cristina, Pedemonte, Nicoletta

المساهمون: Tomati, Valeria, Costa, Stefano, Capurro, Valeria, Pesce, Emanuela, Pastorino, Cristina, Lena, Mariateresa, Sondo, Elvira, Di Duca, Marco, Cresta, Federico, Cristadoro, Simona, Zara, Federico, Galietta, Luis Juan Vicente, Bocciardi, Renata, Castellani, Carlo, Lucanto, Maria Cristina, Pedemonte, Nicoletta

مصطلحات موضوعية: Chloride secretion, Corrector, Gating, Modulator, Potentiator, Stabilizer, Theratype

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001016814800001; volume:22; issue:3; firstpage:525; lastpage:537; numberofpages:13; journal:JOURNAL OF CYSTIC FIBROSIS; https://hdl.handle.net/11588/908353; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144792248

الاتاحة: https://hdl.handle.net/11588/908353
https://doi.org/10.1016/j.jcf.2022.12.005

المؤلفون: Sondo, Elvira, Cresta, Federico, Pastorino, Cristina, Tomati, Valeria, Capurro, Valeria, Pesce, Emanuela, Lena, Mariateresa, Iacomino, Michele, Baffico, Ave Maria, Coviello, Domenico, Bandiera, Tiziano, Zara, Federico, Galietta, L, Bocciardi, Renata, Castellani, Carlo, Pedemonte, Nicoletta

المساهمون: Sondo, Elvira, Cresta, Federico, Pastorino, Cristina, Tomati, Valeria, Capurro, Valeria, Pesce, Emanuela, Lena, Mariateresa, Iacomino, Michele, Baffico, Ave Maria, Coviello, Domenico, Bandiera, Tiziano, Zara, Federico, Galietta, L, Bocciardi, Renata, Castellani, Carlo, Pedemonte, Nicoletta

مصطلحات موضوعية: chloride secretion, corrector, modulator, potentiator, theratype, Allele, Aminophenol, Benzodioxole, Drug Combination, Human, Indole, Mutation, Pyrazole, Pyridine, Pyrrolidine, Quinolone, Cystic Fibrosi, Cystic Fibrosis Transmembrane Conductance Regulator

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000775287900001; volume:23; issue:6; firstpage:3175; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11588/900507; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126335723

الاتاحة: https://hdl.handle.net/11588/900507
https://doi.org/10.3390/ijms23063175

المؤلفون: Terlizzi, Vito, Pesce, Emanuela, Capurro, Valeria, Tomati, Valeria, Lena, Mariateresa, Pastorino, Cristina, Bocciardi, Renata, Zara, Federico, Centrone, Claudia, Taccetti, Giovanni, Castellani, Carlo, Pedemonte, Nicoletta

المصدر: International Journal of Molecular Sciences; Apr2023, Vol. 24 Issue 7, p6576, 15p

مصطلحات موضوعية: CYSTIC fibrosis transmembrane conductance regulator, CHLORIDE channels, GENETIC profile, MISSENSE mutation, EPITHELIAL cells, CYSTIC fibrosis, SWEAT glands, NASAL mucosa

المؤلفون: Valeria Tomati, Stefano Costa, Valeria Capurro, Emanuela Pesce, Cristina Pastorino, Mariateresa Lena, Elvira Sondo, Marco Di Duca, Federico Cresta, Simona Cristadoro, Federico Zara, Luis J.V. Galietta, Renata Bocciardi, Carlo Castellani, Maria Cristina Lucanto, Nicoletta Pedemonte

المساهمون: Tomati, Valeria, Costa, Stefano, Capurro, Valeria, Pesce, Emanuela, Pastorino, Cristina, Lena, Mariateresa, Sondo, Elvira, Di Duca, Marco, Cresta, Federico, Cristadoro, Simona, Zara, Federico, Galietta, Luis Juan Vicente, Bocciardi, Renata, Castellani, Carlo, Lucanto, Maria Cristina, Pedemonte, Nicoletta

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Chloride secretion, Potentiator, Pediatrics, Perinatology and Child Health, Modulator, Theratype, Gating, Stabilizer, Corrector

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4294bafcfa4e5f64db39991eddc0f8e
https://hdl.handle.net/11588/908353