Citations for
1CSNU1, CSNU3, SLC3A1, SLC7A9
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.
Mol Genet Metab 99(1):42-52. Epub .PMID: 19782624 2010
2ALMS1, BCAS3, C17orf82, CEP89, DUSP11, FAAP24, GATM, MYH9, NAT8, SHROOM3, SLC22A2, SLC7A9, TBX2, TPRKB, UMOD
Genetic loci influencing kidney function and chronic kidney disease.
Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS.
Nat Genet 42(5):373-5. Epub 2010 Apr 11. 2010
3SLC6A19, SLC7A9
Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells.
Mitsuoka K, Shirasaka Y, Fukushi A, Sato M, Nakamura T, Nakanishi T, Tamai I.
Biopharm Drug Dispos 30(3):126-37.PMID: 19322909 2009
4CSNU1, CSNU3, SLC3A1, SLC7A9
An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I.
Mol Genet Metab 95(3):192-3. Epub 2008 Sep 7. No abstract available. 2008
5SLC7A9, CSNU3
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim DK, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou H.
Kidney Int 69(7):1198-206. 2006
6CSNU1, CSNU3, SLC3A1, SLC7A9
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V.
J Med Genet 42(1):58-68. 2005
7SLC7A9, CSNU3
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.
Schmidt C, Lahme S, Zerres K, Eggermann T.
Mol Genet Metab 84(2):172-5. 2005
8CSNU1, SLC3A1, SLC7A9, CSNU3
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft fur Padiatrische Nephrologie.
Kidney Int 64(5):1564-72. 2003
9CSNU1, CSNU3, SLC3A1, SLC7A9
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacin M, Rizzoni G.
J Am Soc Nephrol 13(10):2547-53. 2002
10SLC7A9
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA, Feliubadalo 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, Fernandez E, Zorzano A, Bertran J, Palacin M.
Hum Mol Genet 10(4):305-16. 2001
11SLC7A9
Human cystinuria-related transporter: localization and functional characterization.
Mizoguchi K, Cha SH, Chairoungdua A, Kim DK, Shigeta Y, Matsuo H, Fukushima J, Awa Y, Akakura K, Goya T, Ito H, Endou H, Kanai Y.
Kidney Int 59(5):1821-33. 2001
12SLC7A9, CSNU3
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium.
Feliubadalo L, et al.
Nat Genet 23(1):52-7 1999
13CSNU3, SLC7A9
Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in libyan jewish cystinuria patients.
Pras E, et al.
Genomics 60(2):248-50 1999
14CSNU3, SLC7A9
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
Feliubadalo L, et al.
Genomics 60(3):362-5 1999
15CSNU3, SLC7A9
Luminal heterodimeric amino acid transporter defective in cystinuria.
Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F.
Mol Biol Cell 10(12):4135-47. 1999