1 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| 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.
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| Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.
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| Mol Genet Metab 99(1):42-52. Epub .PMID: 19782624 2010
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2 | ALMS1, BCAS3, C17orf82, CEP89, DUSP11, FAAP24, GATM, MYH9, NAT8, SHROOM3, SLC22A2, SLC7A9, TBX2, TPRKB, UMOD
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| Genetic loci influencing kidney function and chronic kidney disease.
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| 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.
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| Nat Genet 42(5):373-5. Epub 2010 Apr 11. 2010
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3 | SLC6A19, SLC7A9
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| Transport characteristics of L-citrulline in renal apical membrane of proximal tubular cells.
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| Mitsuoka K, Shirasaka Y, Fukushi A, Sato M, Nakamura T, Nakanishi T, Tamai I.
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| Biopharm Drug Dispos 30(3):126-37.PMID: 19322909 2009
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4 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
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| Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I.
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| Mol Genet Metab 95(3):192-3. Epub 2008 Sep 7. No abstract available. 2008
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5 | SLC7A9, CSNU3
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| A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
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| 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.
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| Kidney Int 69(7):1198-206. 2006
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6 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
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| Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V.
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| J Med Genet 42(1):58-68. 2005
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7 | SLC7A9, CSNU3
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| Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.
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| Schmidt C, Lahme S, Zerres K, Eggermann T.
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| Mol Genet Metab 84(2):172-5. 2005
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8 | CSNU1, SLC3A1, SLC7A9, CSNU3
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| Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
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| Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft fur Padiatrische Nephrologie.
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| Kidney Int 64(5):1564-72. 2003
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9 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
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| 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.
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| J Am Soc Nephrol 13(10):2547-53. 2002
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10 | SLC7A9
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| Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
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| 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.
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| Hum Mol Genet 10(4):305-16. 2001
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11 | SLC7A9
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| Human cystinuria-related transporter: localization and functional characterization.
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| 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.
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| Kidney Int 59(5):1821-33. 2001
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12 | SLC7A9, CSNU3
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| Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. International Cystinuria Consortium.
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| Feliubadalo L, et al.
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| Nat Genet 23(1):52-7 1999
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13 | CSNU3, SLC7A9
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| Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in libyan jewish cystinuria patients.
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| Pras E, et al.
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| Genomics 60(2):248-50 1999
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14 | CSNU3, SLC7A9
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| Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
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| Feliubadalo L, et al.
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| Genomics 60(3):362-5 1999
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15 | CSNU3, SLC7A9
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| Luminal heterodimeric amino acid transporter defective in cystinuria.
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| Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F.
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| Mol Biol Cell 10(12):4135-47. 1999
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