Cystinuria caused by mutations in rBAT , a gene involved in the transport of cystine
Zelante, Leopoldo, Barceló, Pedro, Zorzano, Antonio, Estivill, Xavier, Rousaud, Ferran, Gasparini, Paolo, Di Silverio, Franco, Nunes, Virginia, Palacín, Manuel, Chillón, Miguel, Calonge, María Julia, Chillarón, Josep, Dallapiccola, Bruno, Testar, Xavier, Gallucci, Michele
Published in Nature genetics (01.04.1994)
Published in Nature genetics (01.04.1994)
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Genetic Heterogeneity in Cystinuria: The SLC3A1 Gene is Linked to Type I but not to Type III Cystinuria
Calonge, Maria Julia, Volpini, Victor, Bisceglia, Luigi, Rousaud, Ferran, de Sanctis, Luisa, Beccia, Ercole, Zelante, Leopoldo, testar, Xavier, Zorzano, Antonio, Estivill, Xavier, Gasparini, Paolo, Nunes, Virginia, Palacini, Manuel
Published in Proceedings of the National Academy of Sciences - PNAS (10.10.1995)
Published in Proceedings of the National Academy of Sciences - PNAS (10.10.1995)
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Molecular genetics of cystinuria : identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
GASPARINI, P, CALONGE, M. J, ESTIVILL, X, ZORZANO, A, PALACIN, M, NUNES, V, ZELANTE, L, BISCEGLIA, L, PURROY, J, DIANZANI, I, NOTARANGELO, A, ROUSAUD, F, GALLUCCI, M, TESTAR, X, PONZONE, A
Published in American journal of human genetics (01.10.1995)
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Published in American journal of human genetics (01.10.1995)
Journal Article
The rBAT Gene Is Responsible for L-Cystine Uptake via the b-like Amino Acid Transport System in a Renal Proximal Tubular Cell Line (OK Cells)
Conchi Mora, Josep Chillarón, MarÃa Julia Calonge, Judith Forgo, Xavier Testar, Virginia Nunes, Heini Murer, Antonio Zorzano, Manuel PalacÃn
Published in The Journal of biological chemistry (03.05.1996)
Published in The Journal of biological chemistry (03.05.1996)
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Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism
Bisceglia, L, Calonge, M J, Dello Strologo, L, Rizzoni, G, de Sanctis, L, Gallucci, M, Beccia, E, Testar, X, Zorzano, A, Estivill, X, Zelante, L, Palacin, M, Gasparini, P, Nunes, V
Published in Human genetics (01.10.1996)
Published in Human genetics (01.10.1996)
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Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
Calonge, M J, Nadal, M, Calvano, S, Testar, X, Zelante, L, Zorzano, A, Estivill, X, Gasparini, P, Palacín, M, Nunes, V
Published in Human genetics (01.06.1995)
Published in Human genetics (01.06.1995)
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Opposite Smad and Chicken Ovalbumin Upstream Promoter Transcription Factor Inputs in the Regulation of the Collagen VII Gene Promoter by Transforming Growth Factor-β
Calonge, María Julia, Seoane, Joan, Massagué, Joan
Published in The Journal of biological chemistry (28.05.2004)
Published in The Journal of biological chemistry (28.05.2004)
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Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1
BISCEGLIA, L, CALONGE, M. J, ZORZANO, A, ESTIVILL, X, GASPARINI, P, NUNES, V, PALACIN, M, TOTARO, A, FELIUBADALO, L, MELCHIONDA, S, GARCIA, J, TESTAR, X, GALLUCCI, M, PONZONE, A, ZELANTE, L
Published in American journal of human genetics (01.03.1997)
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Published in American journal of human genetics (01.03.1997)
Journal Article
The rBAT Gene Is Responsible for L-Cystine Uptake via the bo,+-like Amino Acid Transport System in a “Renal Proximal Tubular” Cell Line (OK Cells)
Mora, Conchi, Chillarón, Josep, Calonge, María Julia, Forgo, Judith, Testar, Xavier, Nunes, Virginia, Murer, Heini, Zorzano, Antonio, Palacín, Manuel
Published in The Journal of biological chemistry (01.05.1996)
Published in The Journal of biological chemistry (01.05.1996)
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Journal Article
Genomic structure and organization of the human rBAT gene (SLC3A1)
PURROY, J, BISCEGLIA, L, CALONGE, M. J, ZELANTE, L, TESTAR, X, ZORZANO, A, ESTIVILL, X, PALACIN, M, NUNES, V, GASPARINI, P
Published in Genomics (San Diego, Calif.) (15.10.1996)
Published in Genomics (San Diego, Calif.) (15.10.1996)
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Journal Article
Genomic Structure and Organization of the HumanrBATGene (SLC3A1)
Purroy, Jesús, Bisceglia, Luigi, Calonge, Marı́a Julia, Zelante, Leopoldo, Testar, Xavier, Zorzano, Antonio, Estivill, Xavier, Palacı́n, Manuel, Nunes, Virginia, Gasparini, Paolo
Published in Genomics (San Diego, Calif.) (15.10.1996)
Published in Genomics (San Diego, Calif.) (15.10.1996)
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