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Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.
Tomati V, Costa S, Capurro V, Pesce E, Pastorino C, Lena M, Sondo E, Di Duca M, Cresta F, Cristadoro S, Zara F, Galietta LJV, Bocciardi R, Castellani C, Lucanto MC, Pedemonte N. Tomati V, et al. Among authors: di duca m. J Cyst Fibros. 2023 May;22(3):525-537. doi: 10.1016/j.jcf.2022.12.005. Epub 2022 Dec 19. J Cyst Fibros. 2023. PMID: 36543707
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.
Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I. Matera I, et al. Among authors: di duca m. J Med Genet. 2004 May;41(5):373-80. doi: 10.1136/jmg.2003.015412. J Med Genet. 2004. PMID: 15121777 Free PMC article. No abstract available.
Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome.
Oleggini R, Bertelli R, Di Donato A, Di Duca M, Caridi G, Sanna-Cherchi S, Scolari F, Murer L, Allegri L, Coppo R, Emma F, Camussi G, Perfumo F, Ghiggeri GM. Oleggini R, et al. Among authors: di duca m, di donato a. Gene Expr. 2006;13(1):59-66. doi: 10.3727/000000006783991926. Gene Expr. 2006. PMID: 16572591 Free PMC article.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M, Schiavetti I, Madia F, Chelleri C, Piccolo G, Accogli A, Riva A, Salpietro V, Bocciardi R, Morcaldi G, Di Duca M, Caroli F, Verrico A, Milanaccio C, Viglizzo G, Traverso M, Baldassari S, Scudieri P, Iacomino M, Piatelli G, Minetti C, Striano P, Garrè ML, De Marco P, Diana MC, Capra V, Pavanello M, Zara F. Scala M, et al. Among authors: di duca m. Cancers (Basel). 2021 Apr 14;13(8):1879. doi: 10.3390/cancers13081879. Cancers (Basel). 2021. PMID: 33919865 Free PMC article.
56 results