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Items: 1 to 20 of 385

1.

A mouse model for cystinuria type I.

Peters T, Thaete C, Wolf S, Popp A, Sedlmeier R, Grosse J, Nehls MC, Russ A, Schlueter V.

Hum Mol Genet. 2003 Sep 1;12(17):2109-20.

2.

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.

Hum Mol Genet. 2003 Sep 1;12(17):2097-108.

3.
4.

Cystinuria phenotyping by oral lysine and arginine loading.

de Sanctis L, Bonetti G, Bruno M, De Luca F, Bisceglia L, Palacin M, Dianzani I, Ponzone A.

Clin Nephrol. 2001 Dec;56(6):467-74.

PMID:
11770798
5.

[From gene to disease; SLC3A1, SLC7A9 and cystinuria].

Breuning MH, Hamdy NA.

Ned Tijdschr Geneeskd. 2003 Feb 8;147(6):245-7. Review. Dutch.

PMID:
12621979
6.

Recent advances in the biochemical and molecular biological basis of cystinuria.

Gitomer WL, Pak CY.

J Urol. 1996 Dec;156(6):1907-12. Review.

PMID:
8911353
7.
8.

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.

Am J Physiol Renal Physiol. 2007 Sep;293(3):F732-40.

9.

Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

Guillén M, Corella D, Cabello ML, García AM, Portolés O, Hernández-Yago J.

Hum Genet. 2000 Mar;106(3):314-20.

PMID:
10798361
10.

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.

Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U.

Hum Genet. 2000 Oct;107(4):295-303.

PMID:
11129328
11.

[Cystinuria update: clinical, biochemical and genetic aspects].

Orts Costa JA, Zúñiga Cabrera A, Martínez de la Cára y Salmerón J.

An Med Interna. 2003 Jun;20(6):317-26. Review. Spanish.

PMID:
12848605
12.

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.

J Biol Chem. 1996 May 3;271(18):10569-76.

13.

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J.

Am J Physiol Renal Physiol. 2002 Sep;283(3):F540-8.

14.

Mutations of the basic amino acid transporter gene associated with cystinuria.

Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H, Taketani Y, Takada K, Morita K, Kanayama H, et al.

Biochem J. 1995 Sep 15;310 ( Pt 3):951-5.

15.

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T.

Ann Hum Genet. 2005 Sep;69(Pt 5):501-7.

16.

Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.

Chillarón J, Estévez R, Mora C, Wagner CA, Suessbrich H, Lang F, Gelpí JL, Testar X, Busch AE, Zorzano A, Palacín M.

J Biol Chem. 1996 Jul 26;271(30):17761-70.

18.

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..

Hum Mol Genet. 2001 Feb 15;10(4):305-16.

19.

Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein.

Chairoungdua A, Segawa H, Kim JY, Miyamoto K, Haga H, Fukui Y, Mizoguchi K, Ito H, Takeda E, Endou H, Kanai Y.

J Biol Chem. 1999 Oct 8;274(41):28845-8.

20.

Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.

Di Giacopo A, Rubio-Aliaga I, Cantone A, Artunc F, Rexhepaj R, Frey-Wagner I, Font-Llitjós M, Gehring N, Stange G, Jaenecke I, Mohebbi N, Closs EI, Palacín M, Nunes V, Daniel H, Lang F, Capasso G, Wagner CA.

Am J Physiol Renal Physiol. 2013 Dec 15;305(12):F1645-55. doi: 10.1152/ajprenal.00221.2013.

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