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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: tomati v. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Influence of cell background on pharmacological rescue of mutant CFTR.
Pedemonte N, Tomati V, Sondo E, Galietta LJ. Pedemonte N, et al. Among authors: tomati v. Am J Physiol Cell Physiol. 2010 Apr;298(4):C866-74. doi: 10.1152/ajpcell.00404.2009. Epub 2010 Jan 6. Am J Physiol Cell Physiol. 2010. PMID: 20053923 Free article.
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia.
Scudieri P, Caci E, Bruno S, Ferrera L, Schiavon M, Sondo E, Tomati V, Gianotti A, Zegarra-Moran O, Pedemonte N, Rea F, Ravazzolo R, Galietta LJ. Scudieri P, et al. Among authors: tomati v. J Physiol. 2012 Dec 1;590(23):6141-55. doi: 10.1113/jphysiol.2012.240838. Epub 2012 Sep 17. J Physiol. 2012. PMID: 22988141 Free PMC article.
Non-canonical translation start sites in the TMEM16A chloride channel.
Sondo E, Scudieri P, Tomati V, Caci E, Mazzone A, Farrugia G, Ravazzolo R, Galietta LJ. Sondo E, et al. Among authors: tomati v. Biochim Biophys Acta. 2014 Jan;1838(1 Pt B):89-97. doi: 10.1016/j.bbamem.2013.08.010. Epub 2013 Aug 28. Biochim Biophys Acta. 2014. PMID: 23994600 Free PMC article.
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release.
Gorrieri G, Scudieri P, Caci E, Schiavon M, Tomati V, Sirci F, Napolitano F, Carrella D, Gianotti A, Musante I, Favia M, Casavola V, Guerra L, Rea F, Ravazzolo R, Di Bernardo D, Galietta LJ. Gorrieri G, et al. Among authors: tomati v. Sci Rep. 2016 Oct 27;6:36016. doi: 10.1038/srep36016. Sci Rep. 2016. PMID: 27786259 Free PMC article.
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Lualdi S, Del Zotto G, Zegarra-Moran O, Pedemonte N, Corsolini F, Bruschi M, Tomati V, Amico G, Candiano G, Dardis A, Cooper DN, Filocamo M. Lualdi S, et al. Among authors: tomati v. Hum Mutat. 2017 Jul;38(7):849-862. doi: 10.1002/humu.23243. Epub 2017 May 22. Hum Mutat. 2017. PMID: 28477385
SWATH label-free proteomics for cystic fibrosis research.
Braccia C, Tomati V, Caci E, Pedemonte N, Armirotti A. Braccia C, et al. Among authors: tomati v. J Cyst Fibros. 2019 Jul;18(4):501-506. doi: 10.1016/j.jcf.2018.10.004. Epub 2018 Oct 19. J Cyst Fibros. 2019. PMID: 30348611 Free article.
44 results