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Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma.
Amaro A, Parodi F, Diedrich K, Angelini G, Götz C, Viaggi S, Maric I, Coviello D, Pistillo MP, Morabito A, Mandalà M, Ghiorzo P, Visconti P, Gualco M, Anselmi L, Puzone R, Lanza F, Mosci C, Raggi F, Bosco MC, Varesio L, Zeschnigk M, Spano L, Queirolo P, Pfeffer U. Amaro A, et al. Among authors: coviello d. JAMA Ophthalmol. 2016 Oct 1;134(10):1125-1133. doi: 10.1001/jamaophthalmol.2016.2691. JAMA Ophthalmol. 2016. PMID: 27532663
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations.
Piaggio F, Croce M, Reggiani F, Monti P, Bernardi C, Ambrosio M, Banelli B, Dogrusöz M, Jockers R, Bordo D, Puzone R, Viaggi S, Coviello D, Lanza FB, Bartolucci M, Petretto A, Mosci C, Gangemi R, van der Velden PA, Jager MJ, Pfeffer U, Amaro A. Piaggio F, et al. Among authors: coviello d. Eur J Cancer. 2022 Jul;170:27-41. doi: 10.1016/j.ejca.2022.04.013. Epub 2022 May 14. Eur J Cancer. 2022. PMID: 35580369
Single-nucleotide polymorphisms in 3'-untranslated region inducible costimulator gene and the important roles of miRNA in alopecia areata.
Conteduca G, Rossi A, Megiorni F, Parodi A, Ferrera F, Tardito S, Altosole T, Fausti V, Occella C, Kalli F, Negrini S, Pizzuti A, Marchese C, Rizza E, Indiveri F, Coviello D, Fenoglio D, Filaci G. Conteduca G, et al. Among authors: coviello d. Skin Health Dis. 2021 May 6;1(2):e34. doi: 10.1002/ski2.34. eCollection 2021 Jun. Skin Health Dis. 2021. PMID: 35664973 Free PMC article.
240 results