Characterization of a murine gene expressed from the inactive X chromosome G Borsani, R Tonlorenzi, MC Simmler, L Dandolo, D Arnaud, V Capra, ... Nature 351 (6324), 325-329, 1991 | 670 | 1991 |
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+ AT) of rBAT L Feliubadaló, M Font, J Purroy, F Rousaud, X Estivill, V Nunes, E Golomb, ... Nature genetics 23 (1), 52-57, 1999 | 379 | 1999 |
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and … S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ... The American Journal of Human Genetics 62 (3), 533-541, 1998 | 349 | 1998 |
Cloning of the gene encoding a novel integral membrane protein, mucolipidin—and identification of the two major founder mutations causing mucolipidosis type IV MT Bassi, M Manzoni, E Monti, MT Pizzo, A Ballabio, G Borsani The American Journal of Human Genetics 67 (5), 1110-1120, 2000 | 299 | 2000 |
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation M Piccini, F Vitelli, M Bruttini, BR Pober, JJ Jonsson, M Villanova, M Zollo, ... Genomics 47 (3), 350-358, 1998 | 290 | 1998 |
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance G Borsani, MT Bassi, MP Sperandeo, AD Grandi, A Buoninconti, M Riboni, ... nature genetics 21 (3), 297-301, 1999 | 274 | 1999 |
Sialidases in vertebrates: a family of enzymes tailored for several cell functions E Monti, E Bonten, A D'Azzo, R Bresciani, B Venerando, G Borsani, ... Advances in carbohydrate chemistry and biochemistry 64, 403-479, 2010 | 237 | 2010 |
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching S Banfi, G Borsani, E Rossi, L Bernard, A Guffanti, F Rubboli, ... Nature genetics 13 (2), 167-174, 1996 | 234 | 1996 |
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human AI Agulnik, MJ Mitchell, MG Mattei, G Borsani, PA Avner, JL Lerner, ... Human molecular genetics 3 (6), 879-884, 1994 | 221 | 1994 |
Recent development in mammalian sialidase molecular biology E Monti, A Preti, B Venerando, G Borsani Neurochemical research 27, 649-663, 2002 | 210 | 2002 |
Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane E Monti, MT BASSI, N PAPINI, M RIBONI, M Manzoni, B VENERANDO, ... Biochemical Journal 349 (1), 343-351, 2000 | 196 | 2000 |
NF‐κB pathway: a target for preventing β‐amyloid (Aβ)‐induced neuronal damage and Aβ42 production A Valerio, F Boroni, M Benarese, I Sarnico, V Ghisi, LG Bresciani, ... European Journal of Neuroscience 23 (7), 1711-1720, 2006 | 192 | 2006 |
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc – M Bassi, E Gasol, M Manzoni, M Pineda, M Riboni, R Martín, A Zorzano, ... Pflügers Archiv 442, 286-296, 2001 | 189 | 2001 |
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis AM Barbieri, G Lupo, A Bulfone, M Andreazzoli, M Mariani, ... Proceedings of the National Academy of Sciences 96 (19), 10729-10734, 1999 | 185 | 1999 |
EYA4, a Novel Vertebrate Gene Related to Drosophila Eyes Absent G Borsani, A DeGrandi, A Ballabio, A Bulfone, L Bernard, S Banfi, ... Human molecular genetics 8 (1), 11-23, 1999 | 181 | 1999 |
Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting EI Rugarli, B Lutz, SC Kuratani, S Wawersik, G Borsani, A Ballabio, ... Nature genetics 4 (1), 19-26, 1993 | 176 | 1993 |
Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor G Meroni, A Reymond, M Alcalay, G Borsani, A Tanigami, R Tonlorenzi, ... The EMBO journal, 1997 | 173 | 1997 |
The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation A De Grandi, V Calvari, V Bertini, A Bulfone, G Peverali, G Camerino, ... Mechanisms of development 90 (2), 323-326, 2000 | 157 | 2000 |
Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria M Font, L Feliubadaló, X Estivill, V Nunes, E Golomb, Y Kreiss, E Pras, ... Human molecular genetics 10 (4), 305-316, 2001 | 155 | 2001 |
The molecular bases of cystinuria and lysinuric protein intolerance M Palacı́n, G Borsani, G Sebastio Current opinion in genetics & development 11 (3), 328-335, 2001 | 153 | 2001 |