메뉴 건너뛰기




Volumn 54, Issue 1, 1998, Pages 56-61

Cystinuria subtype and the risk of nephrolithiasis

Author keywords

Cystinuria; Genetics; Kidney stones; Mutations; Nephrolithiasis; Proximal tubule

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CYSTINURIA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FOLLOW UP; GENE LOCUS; GENE MUTATION; HIGH RISK POPULATION; HUMAN; NEPHROLITHIASIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031806916     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00957.x     Document Type: Article
Times cited : (85)

References (20)
  • 1
    • 0013887059 scopus 로고
    • Cystinuria: Biochemical evidence for three genetically distinct diseases
    • ROSENBERG LE, DOWNING S, DURANT JL, SEGAL S: Cystinuria: Biochemical evidence for three genetically distinct diseases. J Clin Invest 45:365-371, 1966
    • (1966) J Clin Invest , vol.45 , pp. 365-371
    • Rosenberg, L.E.1    Downing, S.2    Durant, J.L.3    Segal, S.4
  • 2
    • 0027510375 scopus 로고
    • Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
    • GOODYER PR, CLOW C, READE T, GIRARDIN C: Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J Pediatr 122:568-572, 1993
    • (1993) J Pediatr , vol.122 , pp. 568-572
    • Goodyer, P.R.1    Clow, C.2    Reade, T.3    Girardin, C.4
  • 3
    • 0027276858 scopus 로고
    • Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic and neutral amino acid transport
    • LEE WS, WELLS R, SABBAG RV, MOHANDAS TK, HEDIGER MA: Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic and neutral amino acid transport. J Clin Invest 91:1959-1963, 1993
    • (1993) J Clin Invest , vol.91 , pp. 1959-1963
    • Lee, W.S.1    Wells, R.2    Sabbag, R.V.3    Mohandas, T.K.4    Hediger, M.A.5
  • 4
    • 0027326170 scopus 로고
    • Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes
    • BERTRAN J, WERNER A, CHILLARON J, NUNES V, BIBER J, TESTAR X, ZORZANO A, ESTIVILL X, MURER H, PALACIN M: Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. J Biol Chem 268:14842-14849, 1993
    • (1993) J Biol Chem , vol.268 , pp. 14842-14849
    • Bertran, J.1    Werner, A.2    Chillaron, J.3    Nunes, V.4    Biber, J.5    Testar, X.6    Zorzano, A.7    Estivill, X.8    Murer, H.9    Palacin, M.10
  • 5
    • 0028556715 scopus 로고
    • Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization
    • ZHANG X-X, ROZEN R, HEDIGER MA, GOODYER P, EYDOUX P: Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization. Genomics 24:413-414, 1994
    • (1994) Genomics , vol.24 , pp. 413-414
    • Zhang, X.-X.1    Rozen, R.2    Hediger, M.A.3    Goodyer, P.4    Eydoux, P.5
  • 12
    • 0029934548 scopus 로고    scopus 로고
    • 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: Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in Type I patients. Kidney Int 49:1401-1406, 1996
    • (1996) Kidney Int , vol.49 , pp. 1401-1406
    • Horsford, J.1    Saadi, I.2    Raelson, J.3    Goodyer, P.R.4    Rozen, R.5
  • 15
    • 0031029375 scopus 로고    scopus 로고
    • Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q
    • WARTENFELD R, GOLOMB E, KATZ G, BALE SJ, GOLDMAN B, PRAS M, KASTNER DL, PRAS E: Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60:617-624, 1997
    • (1997) Am J Hum Genet , vol.60 , pp. 617-624
    • Wartenfeld, R.1    Golomb, E.2    Katz, G.3    Bale, S.J.4    Goldman, B.5    Pras, M.6    Kastner, D.L.7    Pras, E.8
  • 17
    • 0031807024 scopus 로고    scopus 로고
    • Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type 1 (silent) phenotype
    • SAADI I, CHEN Z-X, HEDIGER M, ONG P, PEREIRA P, GOODYER P, ROZEN R: Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type 1 (silent) phenotype. Kidney Int 54:000-000, 1998
    • (1998) Kidney Int , vol.54
    • Saadi, I.1    Chen, Z.-X.2    Hediger, M.3    Ong, P.4    Pereira, P.5    Goodyer, P.6    Rozen, R.7
  • 18
    • 0027054424 scopus 로고
    • Expression of mRNA (D2) encoding a protein involved in amino acid transport in S3 proximal tubule
    • KANAI Y, STELZNER MG, LEE W-S, WELLS RG, BROWN D, HEDIGER MA: Expression of mRNA (D2) encoding a protein involved in amino acid transport in S3 proximal tubule. Am J Physiol 263:F1087-F1093, 1992
    • (1992) Am J Physiol , vol.263
    • Kanai, Y.1    Stelzner, M.G.2    Lee, W.-S.3    Wells, R.G.4    Brown, D.5    Hediger, M.A.6
  • 19
    • 0027754167 scopus 로고
    • rBAT, related to L-cystine transport, is localized to the microvilli of proximal straight tubules, and its expression is regulated in kidney by development
    • FURRIOLS M, CHILLARON J, MORA C, CASTELLO A, BERTRAN J, CAMPS M, TESTAR X, VILARO S, ZORZANO A, PALACIN M: rBAT, related to L-cystine transport, is localized to the microvilli of proximal straight tubules, and its expression is regulated in kidney by development. J Biol Chem 268:27060-27068, 1993
    • (1993) J Biol Chem , vol.268 , pp. 27060-27068
    • Furriols, M.1    Chillaron, J.2    Mora, C.3    Castello, A.4    Bertran, J.5    Camps, M.6    Testar, X.7    Vilaro, S.8    Zorzano, A.9    Palacin, M.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.