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The Deep Genome Project.
Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM. Lloyd KCK, et al. Among authors: mammano f. Genome Biol. 2020 Feb 3;21(1):18. doi: 10.1186/s13059-020-1931-9. Genome Biol. 2020. PMID: 32008577 Free PMC article. No abstract available.
Human and mouse essentiality screens as a resource for disease gene discovery.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D; Genomics England Research Consortium; International Mouse Phenotyping Consortium. Cacheiro P, et al. Among authors: mammano f. Nat Commun. 2020 Jan 31;11(1):655. doi: 10.1038/s41467-020-14284-2. Nat Commun. 2020. PMID: 32005800 Free PMC article.
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Ficarella R, Di Leva F, Bortolozzi M, Ortolano S, Donaudy F, Petrillo M, Melchionda S, Lelli A, Domi T, Fedrizzi L, Lim D, Shull GE, Gasparini P, Brini M, Mammano F, Carafoli E. Ficarella R, et al. Among authors: mammano f. Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1516-21. doi: 10.1073/pnas.0609775104. Epub 2007 Jan 18. Proc Natl Acad Sci U S A. 2007. PMID: 17234811 Free PMC article.
PMCA2 pump mutations and hereditary deafness.
Bortolozzi M, Mammano F. Bortolozzi M, et al. Among authors: mammano f. Neurosci Lett. 2018 Jan 10;663:18-24. doi: 10.1016/j.neulet.2017.09.059. Neurosci Lett. 2018. PMID: 29452611 Review.
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Schütz M, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F. Schütz M, et al. Among authors: mammano f. Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858605 Free PMC article.
Ca2+ signaling in the inner ear.
Mammano F, Bortolozzi M, Ortolano S, Anselmi F. Mammano F, et al. Physiology (Bethesda). 2007 Apr;22:131-44. doi: 10.1152/physiol.00040.2006. Physiology (Bethesda). 2007. PMID: 17420304 Free article. Review.
188 results