Sfoglia per Titolo
Mutant p53 sustains serine-glycine synthesis and essential amino acids intake promoting breast cancer growth
2023-01-01 Tombari, Camilla; Zannini, Alessandro; Bertolio, Rebecca; Pedretti, Silvia; Audano, Matteo; Triboli, Luca; Cancila, Valeria; Vacca, Davide; Caputo, Manuel; Donzelli, Sara; Segatto, Ilenia; Vodret, Simone; Piazza, Silvano; Rustighi, Alessandra; Mantovani, Fiamma; Belletti, Barbara; Baldassarre, Gustavo; Blandino, Giovanni; Tripodo, Claudio; Bicciato, Silvio; Mitro, Nico; Del Sal, Giannino
Mutant p53 tunes the NRF2-dependent antioxidant response to support survival of cancer cells
2018-01-01 Lisek, Kamil; Campaner, Elena; Ciani, Yari; Walerych, Dawid; Del Sal, Giannino
A mutant p53/Hif1α/miR-30d axis reprograms the secretory pathway promoting the release of a prometastatic secretome
2020-01-01 Capaci, Valeria; Mantovani, Fiamma; Sal, Giannino Del
Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model
2008-01-01 Balducci, C; Bianchi, S; Carli, M; Chiesa, R; Dossena, S; Ferrari, L; Fiordaliso, F; Fioriti, L; Forloni, G; Garofoli, A; Imeri, L; Mangeri, M; Marcon, Gabriella; Morbin, M; Pincherle, A; Restelli, E; Salio, M; Senatore, A; Tagliavini, F; Villani, F.
"Mutation analysis in cystic fibrosis"
1990-01-01 Gasparini, Paolo; Pignatti, P. F.; G., Novelli; B., Dallapiccola; V., Nunes; T., Casals; X., Estivill; E., Fernandez; A., Balassopoulos; D., Loukopoulos; J., Lavinha; L., Simova
Mutation analysis in familial Alzheimer’s disease
1998-01-01 Nacmias, B; Tedde, A; Latorraca, S; Forleo, P; Marcon, G; Piacentini, S; Amaducci, L; Sorbi, S
"Mutation analysis of HLA-H gene in italian hemochromatosis patients"
1997-01-01 M., Carella; L., D'Ambrosio; A., Totaro; A., Grifa; M., Valentino; A., Piperno; D., Girelli; A., Roetto; B., Franco; Gasparini, Paolo; C., Camaschella
A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia
2006-01-01 Procaccio, V; Salazar, G; Ono, S; Styers, Ml; Gearing, M; Davila, A; Jimenez, R; Juncos, J; Gutekunst, Ca; Meroni, Germana; Fontanella, B; Sontag, E; Sontag, Jm; Faundez, V; Wainer, B. H.
Mutational landscape of Zika virus strains worldwide and its structural impact on proteins
2019-01-01 Agrelli, A.; de Moura, R. R.; Crovella, S.; Brandao, L. A. C.
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR)
1998-01-01 Strippoli, P; Savoia, Anna; Iolascon, A; Tonelli, R; Savino, M; Giordano, P; D'Avanzo, M; Massolo, F; Locatelli, F; Borgna, C; DE MATTIA, D; Zelante, L; Paolucci, G; Bagnara, Gb
Mutational status of IGHV is the most reliable prognostic marker in trisomy 12 chronic lymphocytic leukemia
2017-01-01 Bulian, Pietro; Bomben, Riccardo; Dal Bo, Michele; Zucchetto, Antonella; Rossi, Francesca Maria; Degan, Massimo; Pozzo, Federico; Bittolo, Tamara; Bravin, Vanessa; D’Agaro, Tiziana; Cerri, Michaela; Chiarenza, Annalisa; Chaffee, Kari G.; Condoluci, Adalgisa; D’Arena, Giovanni; Spina, Michele; Zaja, Francesco; Pozzato, Gabriele; Di Raimondo, Francesco; Rossi, Davide; Del Poeta, Giovanni; Gaidano, Gianluca; Shanafelt, Tait D.; Gattei, Valter
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression.
2011-01-01 Gnan, Chiara; Patrizia, Noris; Felisa C., Molinas; Shinji, Kunishima; Paula Graciela, Heller; Akihiro, Iguchi; Alessandro, Pecci; Erica, Valencic; Seri, Marco; Silverio, Perrotta; Carlo Luigi, Balduini; Savoia, Anna
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
2001-01-01 Joensuu, T; Hamalainen, R; Yuan, B; Johnson, C; Tegelberg, S; Gasparini, Paolo; Zelante, L; Pirvola, U; Pakarinen, L; Lehesjoki, Ae; DE LA CHAPELLE, A; Sankila, Em
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
2011-01-01 Noris, P.; Perrotta, S.; Seri, M.; Pecci, A.; Gnan, Chiara; Loffredo, G.; Pujol Moix, N.; Zecca, M.; Scognamiglio, F.; DE ROCCO, Daniela; Punzo, F.; Melazzini, F.; Scianguetta, S.; Casale, M.; Marconi, C.; Pippucci, T.; Amendola, G.; Notarangelo, L. D.; Klersy, C.; Civaschi, E.; Balduini, C. L.; Savoia, Anna
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
2003-01-01 Vatta, M; Mohapatra, B; Jimenez, S; Sanchez, X; Faulkner, G; Perles, Z; Sinagra, Gianfranco; Lin, Jh; Vu, Tm; Zhou, Q; Bowles, Kr; DI LENARDA, A; Schimmenti, L; Fox, M; Chrisco, Ma; Murphy, Rt; Mckenna, W; Elliott, P; Bowles, Ne; Chen, J; Valle, G; Towbin, Ja
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
1999-01-01 Grifa, A; Wagner, C; D?ambrosio, L; Melchionda, S; Bernardi, F; LOPEZ BIGAS, N; Rabionet, R; Arbones, M; DELLA MONICA, M; Estivill, X; Lang, F; Gasparini, Paolo
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss
2018-01-01 Guarch, Meritxell Espino; Font-Llitjós, Mariona; Murillo-Cuesta, Silvia; Errasti-Murugarren, Ekaitz; Celaya, Adelaida M.; Girotto, Giorgia; Vuckovic, Dragana; Mezzavilla, Massimo; Vilches, Clara; Bodoy, Susanna; Sahún, Ignasi; González, Laura; Prat, Esther; Zorzano, Antonio; Dierssen, Mara; Varela-Nieto, Isabel; Gasparini, Paolo; Palacín, Manuel; Nunes, Virginia
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
2000-01-01 Seri, THE MAY HEGGLIN FECHTNER SYNDROME C. O. N. S. O. R. T. I. U. M. GROUP I.; Group, Ii; Savino, M; DEL VECCHIO, M; Dapolito, M; Iolascon, A; Zelante, L; Savoia, Anna; GROUP III, Balduini; GROUP IV, Heath
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
2019-01-01 Morgan, A.; Koboldt, D. C.; Barrie, E. S.; Crist, E. R.; Garcia Garcia, G.; Mezzavilla, M.; Faletra, F.; Mihalic Mosher, T.; Wilson, R. K.; Blanchet, C.; Manickam, K.; Roux, A. -F.; Gasparini, P.; Dell'Orco, D.; Girotto, G.
Mutations in proline 82 of p53 impair its activation by Pin1 and Chk2 in response to DNA damage
2005-01-01 Berger, M; Stahl, N; DEL SAL, Giannino; Haupt, Y.
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