Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 130

1.

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.

Nat Genet. 1994 Apr;6(4):420-5.

PMID:
8054986
2.

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.

Amino Acids. 1996 Jun;11(2):225-46. doi: 10.1007/BF00813862.

PMID:
24178689
4.

Cystine transport activity of heterozygous rBAT mutants expressed in Xenopus oocytes.

Ishihara M, Ogura T, Akakura K, Egoshi K, Mikami K, Nakaya H, Ito H.

Nephron. 2002 Jun;91(2):276-80.

PMID:
12053065
5.

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.

6.

Cystinuria defect expresses itself.

Wright EM.

Nat Genet. 1994 Apr;6(4):328-9. No abstract available.

PMID:
8054968
7.

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.

J Biol Chem. 1997 Apr 4;272(14):9543-9.

8.

The molecular basis of cystinuria: an update.

Goodyer P, Boutros M, Rozen R.

Exp Nephrol. 2000 May-Jun;8(3):123-7. Review.

PMID:
10810228
9.

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.

Horsford J, Saadi I, Raelson J, Goodyer PR, Rozen R.

Kidney Int. 1996 May;49(5):1401-6.

10.

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.

Nat Genet. 1999 Sep;23(1):52-7.

PMID:
10471498
11.

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.

12.

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.

Egoshi KI, Akakura K, Kodama T, Ito H.

Kidney Int. 2000 Jan;57(1):25-32.

13.

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T; Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN).

Kidney Int. 2002 Oct;62(4):1136-42.

14.

Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.

Pineda M, Wagner CA, Bröer A, Stehberger PA, Kaltenbach S, Gelpí JL, Martín Del Río R, Zorzano A, Palacín M, Lang F, Bröer S.

Biochem J. 2004 Feb 1;377(Pt 3):665-74.

15.

Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.

Pras E, Sood R, Raben N, Aksentijevich I, Chen X, Kastner DL.

Genomics. 1996 Aug 15;36(1):163-7.

PMID:
8812428
16.

Luminal heterodimeric amino acid transporter defective in cystinuria.

Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kühn LC, Verrey F.

Mol Biol Cell. 1999 Dec;10(12):4135-47.

17.

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.

Hum Genet. 1995 Jun;95(6):633-6.

PMID:
7789946
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.

PMID:
11157794
19.

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.

20.

Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.

Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Söderkvist P, Denneberg T.

Urol Res. 2003 Dec;31(6):417-25. Epub 2003 Oct 25.

PMID:
14586528

Supplemental Content

Support Center