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Detection of single amino acid mutation in human breast cancer by disordered plasmonic self-similar chain.
Coluccio ML, Gentile F, Das G, Nicastri A, Perri AM, Candeloro P, Perozziello G, Proietti Zaccaria R, Gongora JS, Alrasheed S, Fratalocchi A, Limongi T, Cuda G, Di Fabrizio E. Coluccio ML, et al. Among authors: perri am. Sci Adv. 2015 Sep 4;1(8):e1500487. doi: 10.1126/sciadv.1500487. eCollection 2015 Sep. Sci Adv. 2015. PMID: 26601267 Free PMC article.
60kDa lysophospholipase, a new Sgk1 molecular partner involved in the regulation of ENaC.
Menniti M, Iuliano R, Föller M, Sopjani M, Alesutan I, Mariggiò S, Nofziger C, Perri AM, Amato R, Blazer-Yost B, Corda D, Lang F, Perrotti N. Menniti M, et al. Among authors: perri am. Cell Physiol Biochem. 2010;26(4-5):587-96. doi: 10.1159/000322326. Epub 2010 Oct 29. Cell Physiol Biochem. 2010. PMID: 21063096 Free article.
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA. Nitschke S, et al. Among authors: perri am. Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017. Brain. 2022. PMID: 35084461 Free PMC article.
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA. Chown EE, et al. Among authors: perri am. Ann Clin Transl Neurol. 2020 Nov;7(11):2186-2198. doi: 10.1002/acn3.51211. Epub 2020 Oct 9. Ann Clin Transl Neurol. 2020. PMID: 33034425 Free PMC article.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Among authors: perri am. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
28 results