Testar X - Search Results

1

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

Bisceglia L, Calonge MJ, 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. Bisceglia L, et al. Among authors: testar x. Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237. Hum Genet. 1996. PMID: 8792820

2

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al. Gasparini P, et al. Among authors: testar x. Am J Hum Genet. 1995 Oct;57(4):781-8. Am J Hum Genet. 1995. PMID: 7573036 Free PMC article.

3

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.

Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V. Calonge MJ, et al. Among authors: testar x. Hum Genet. 1995 Jun;95(6):633-6. doi: 10.1007/BF00209478. Hum Genet. 1995. PMID: 7789946

4

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, et al. Calonge MJ, et al. Among authors: testar x. Nat Genet. 1994 Apr;6(4):420-5. doi: 10.1038/ng0494-420. Nat Genet. 1994. PMID: 8054986

5

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Bisceglia L, Calonge MJ, Totaro A, Feliubadaló L, Melchionda S, García J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M. Bisceglia L, et al. Among authors: testar x. Am J Hum Genet. 1997 Mar;60(3):611-6. Am J Hum Genet. 1997. PMID: 9042921 Free PMC article.

6

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, et al. Calonge MJ, et al. Among authors: testar x. Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9667-71. doi: 10.1073/pnas.92.21.9667. Proc Natl Acad Sci U S A. 1995. PMID: 7568194 Free PMC article.

7

Genomic structure and organization of the human rBAT gene (SLC3A1).

Purroy J, Bisceglia L, Calonge MJ, Zelante L, Testar X, Zorzano A, Estivill X, Palacín M, Nunes V, Gasparini P. Purroy J, et al. Among authors: testar x. Genomics. 1996 Oct 15;37(2):249-52. doi: 10.1006/geno.1996.0552. Genomics. 1996. PMID: 8921402

8

The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a "renal proximal tubular" cell line (OK cells).

Mora C, Chillarón J, Calonge MJ, Forgo J, Testar X, Nunes V, Murer H, Zorzano A, Palacín M. Mora C, et al. Among authors: testar x. J Biol Chem. 1996 May 3;271(18):10569-76. doi: 10.1074/jbc.271.18.10569. J Biol Chem. 1996. PMID: 8631857 Free article.

J., Gasparini, P., Chillaron, J., Chillon, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F., Barcelo, P., Estivill, X., Zorzano, A., Nunes, V., and Palacin, M. (1994) Nat. ...J., Volipini, V., Bisceglia, L., Rousaud, F …

J., Gasparini, P., Chillaron, J., Chillon, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silver …

9

The molecular basis of cystinuria: the role of the rBAT gene.

Palacín M, Mora C, Chillarón J, Calonge MJ, Estévez R, Torrents D, Testar X, Zorzano A, Nunes V, Purroy J, Estivill X, Gasparini P, Bisceglia L, Zelante L. Palacín M, et al. Among authors: testar x. Amino Acids. 1996 Jun;11(2):225-46. doi: 10.1007/BF00813862. Amino Acids. 1996. PMID: 24178689

10

An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.

Chillarón J, Estévez R, Samarzija I, Waldegger S, Testar X, Lang F, Zorzano A, Busch A, Palacín M. Chillarón J, et al. Among authors: testar x. J Biol Chem. 1997 Apr 4;272(14):9543-9. doi: 10.1074/jbc.272.14.9543. J Biol Chem. 1997. PMID: 9083097 Free article.

A., Suessbrich, H., Lang, F., Gelpi, J. L., Testar, X., Busch, A. E., Zorzano, A., and Palacin, M. (1996) J. Biol. Chem. 271, 17761-17770). ...J., Gasparini, P., Chillaron, J., Chillon, M., Galluci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccol …

A., Suessbrich, H., Lang, F., Gelpi, J. L., Testar, X., Busch, A. E., Zorzano, A., and Palacin, M. (1996) J. Biol. Chem. 271, …

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