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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Among authors: rousaud f. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V. Feliubadaló L, et al. Among authors: rousaud f. Hum Mol Genet. 2003 Sep 1;12(17):2097-108. doi: 10.1093/hmg/ddg228. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915471
Gene symbol: SLC3A1. Disease: Cystinuria.
Nunes V, Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. Nunes V, et al. Among authors: rousaud f. Hum Genet. 2005 May;116(6):541. Hum Genet. 2005. PMID: 15991324 No abstract available.
Cystinuria type I: identification of eight new mutations in SLC3A1.
Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo AP, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L. Bisceglia L, et al. Among authors: rousaud f. Kidney Int. 2001 Apr;59(4):1250-6. doi: 10.1046/j.1523-1755.2001.0590041250.x. Kidney Int. 2001. PMID: 11260385 Free article.
Gene symbol: SLC7A9. Disease: cystinuria, type non-I.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M. Nunes V, et al. Among authors: rousaud f. Hum Genet. 2005 Feb;116(3):231. Hum Genet. 2005. PMID: 15818799 No abstract available.
47 results