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Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
Font-Llitjós M, Feliubadaló L, Espino M, Clèries R, Mañas S, Frey IM, Puertas S, Colell G, Palomo S, Aranda J, Visa J, Palacín M, Nunes V. Font-Llitjós M, et al. Among authors: feliubadalo l. Am J Physiol Renal Physiol. 2007 Sep;293(3):F732-40. doi: 10.1152/ajprenal.00121.2007. Epub 2007 Jun 27. Am J Physiol Renal Physiol. 2007. PMID: 17596531 Free article.
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. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Font MA, et al. Among authors: feliubadalo l. Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305. Hum Mol Genet. 2001. PMID: 11157794
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. 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
The genetics of heteromeric amino acid transporters.
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. Palacín M, et al. Among authors: feliubadalo l. Physiology (Bethesda). 2005 Apr;20:112-24. doi: 10.1152/physiol.00051.2004. Physiology (Bethesda). 2005. PMID: 15772300 Free article. Review.
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C. Stradella A, et al. Among authors: feliubadalo l. J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22. J Med Genet. 2019. PMID: 30580288 Free PMC article.
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA. Fernández-Rodríguez J, et al. Among authors: feliubadalo l. BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84. BMC Cancer. 2012. PMID: 22401137 Free PMC article.
75 results