메뉴 건너뛰기




Volumn 113, Issue 9, 1999, Pages 321-326

Genetic and molecular study of cystinuria in the Valencian Community, Spain;Estudio genético y molecular de la cistinuria en la Comunidad Valenciana

Author keywords

Cystine; Cystinuria; Genetic and molecular epidemiology; SLC3A1

Indexed keywords

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CASE CONTROL STUDY; CHILD; CROSS-SECTIONAL STUDY; CYSTINURIA; FEMALE; GENETICS; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SPAIN;

EID: 0039550683     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (30)
  • 2
    • 0014590523 scopus 로고
    • The excretion of amino acids by cistinuric patients and their relatives
    • Crawhall JC, Purkiss P, Watts RWE, Young EP. The excretion of amino acids by cistinuric patients and their relatives. Ann Hum Genet 1969; 33; 149-169.
    • (1969) Ann Hum Genet , vol.33 , pp. 149-169
    • Crawhall, J.C.1    Purkiss, P.2    Watts, R.W.E.3    Young, E.P.4
  • 3
    • 0013887059 scopus 로고
    • Cystinuria: Biochemical evidence for three genetically distinct disease
    • Rosenberg LE, Dowing S, Durant JL, Segal S. Cystinuria: biochemical evidence for three genetically distinct disease. J Clin Invest 1966; 45: 365-371.
    • (1966) J Clin Invest , vol.45 , pp. 365-371
    • Rosenberg, L.E.1    Dowing, S.2    Durant, J.L.3    Segal, S.4
  • 4
    • 0015122019 scopus 로고
    • Biochemical and genetics studies in cystinuria: Observations on double heterozygotes of genotype I/II
    • Morin CL, Thompson MW, Jackson SH, Sass-Kortsak A. Biochemical and genetics studies in cystinuria: observations on double heterozygotes of genotype I/II. J Clin Invest 1971; 50: 1.961-1.976.
    • (1971) J Clin Invest , vol.50 , pp. 1961-1976
    • Morin, C.L.1    Thompson, M.W.2    Jackson, S.H.3    Sass-Kortsak, A.4
  • 6
    • 0029061119 scopus 로고
    • Assignement of the gene responsible for cystinuria (rBAT) and of markers d2s119 and d2s117 to 2p16 by fluorescence in situ hybridation
    • Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A et al. Assignement of the gene responsible for cystinuria (rBAT) and of markers d2s119 and d2s117 to 2p16 by fluorescence in situ hybridation. Hum Genet 1995; 95: 633-536.
    • (1995) Hum Genet , vol.95 , pp. 633-1536
    • Calonge, M.J.1    Nadal, M.2    Calvano, S.3    Testar, X.4    Zelante, L.5    Zorzano, A.6
  • 8
    • 0029100842 scopus 로고
    • Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphims, and evidence for genetic heterogeneity
    • Gasparini P, Calonge MJ, Bisceglia L, Purroy J. Dianzani Y, Notarangelo A et al. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphims, and evidence for genetic heterogeneity. Am J Genet 1995; 57: 781-788.
    • (1995) Am J Genet , vol.57 , pp. 781-788
    • Gasparini, P.1    Calonge, M.J.2    Bisceglia, L.3    Purroy, J.4    Dianzani, Y.5    Notarangelo, A.6
  • 9
    • 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 1996; 49: 1.401-1.406.
    • (1996) Kidney Int , vol.49 , pp. 1401-1406
    • Horsford, J.1    Saadi, I.2    Raelson, J.3    Goodyer, P.R.4    Rozen, R.5
  • 11
    • 0029090036 scopus 로고
    • Mutations of the basic amino acid trasporter gene associated with cystinuria
    • Miyamoto K, Katai K, Tatsumi S, Sone K, Segawa H, Yamamoto H et al. Mutations of the basic amino acid trasporter gene associated with cystinuria. Biochem J 1995; 310: 951-955.
    • (1995) Biochem J , vol.310 , pp. 951-955
    • Miyamoto, K.1    Katai, K.2    Tatsumi, S.3    Sone, K.4    Segawa, H.5    Yamamoto, H.6
  • 12
    • 0031985456 scopus 로고    scopus 로고
    • A 335 base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria
    • Gitomer WL, Reed B, Rumi LA, Pak CYC. A 335 base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria. Hum Mutation 1998; (Supl): 69-71.
    • (1998) Hum Mutation , Issue.SUPL , pp. 69-71
    • Gitomer, W.L.1    Reed, B.2    Rumi, L.A.3    Pak, C.Y.C.4
  • 13
    • 0028785882 scopus 로고
    • Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to type I but not to type III cystinuria
    • Calonge MJ, Volpini V, Bisceglia L, Rousaud F, De Sanctis L, Beccia E et al. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 1995; 92: 9.667-9.671.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 9667-9671
    • Calonge, M.J.1    Volpini, V.2    Bisceglia, L.3    Rousaud, F.4    De Sanctis, L.5    Beccia, E.6
  • 14
    • 0031029375 scopus 로고    scopus 로고
    • Molecular analysis of cystinuria in Lybian 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 et al. Molecular analysis of cystinuria in Lybian Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 1997; 60: 617-624.
    • (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
  • 16
    • 0000847346 scopus 로고
    • Cystinuria: Excretion of a cystinecomplex which decomposes in the urine with the liberation of free cystine
    • Brand E, Harris MM, Biloon S. Cystinuria: excretion of a cystinecomplex which decomposes in the urine with the liberation of free cystine. J Biol Chem 1930; 86: 315-319.
    • (1930) J Biol Chem , vol.86 , pp. 315-319
    • Brand, E.1    Harris, M.M.2    Biloon, S.3
  • 17
    • 0033009185 scopus 로고    scopus 로고
    • Reference values of urinary excretion of cystine and dibasic aminoacids: Classification of patients with cystinuria in the Valencian Community, Spain
    • Guillén M, Corella D, Cabello ML, García AM, Hernández-Yago J. Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain. Clin Biochem 1999; 32: 25-30.
    • (1999) Clin Biochem , vol.32 , pp. 25-30
    • Guillén, M.1    Corella, D.2    Cabello, M.L.3    García, A.M.4    Hernández-Yago, J.5
  • 18
    • 0000841697 scopus 로고
    • Uber den niederschlag welchen pikrinsäure in normalen harn erzeugt und über eine neue reaction des kreatinins
    • Jaffé M. Uber den Niederschlag welchen Pikrinsäure in normalen Harn erzeugt und über eine neue Reaction des Kreatinins. Z Physiol Chem 1886; 10: 391-400.
    • (1886) Z Physiol Chem , vol.10 , pp. 391-400
    • Jaffé, M.1
  • 19
    • 0025161928 scopus 로고
    • Appraisal of four pre-column derivatization methods for the high-performance liquid chromatographic determination of free amino acids in biological materials
    • Fürst P, Pollack L, Graser TA, Godel H, Stehle P. Appraisal of four pre-column derivatization methods for the high-performance liquid chromatographic determination of free amino acids in biological materials. J Chromatogr 1990; 499: 557-569.
    • (1990) J Chromatogr , vol.499 , pp. 557-569
    • Fürst, P.1    Pollack, L.2    Graser, T.A.3    Godel, H.4    Stehle, P.5
  • 20
    • 0041154548 scopus 로고
    • Determination of free and total homocysteine in human plasma by high performance liquid chromatography with fluorescence detection
    • Araki A, Sako Y. Determination of free and total homocysteine in human plasma by high performance liquid chromatography with fluorescence detection. J Chrom Biomed Appl 1991; 565: 441-446.
    • (1991) J Chrom Biomed Appl , vol.565 , pp. 441-446
    • Araki, A.1    Sako, Y.2
  • 21
    • 0024346890 scopus 로고
    • Use of silica gel polymer for DNA extraction with organic solvents
    • Tilzer LL, Thomas SM, Moreno RF. Use of silica gel polymer for DNA extraction with organic solvents. Anal Biochem 1989; 183: 13-15.
    • (1989) Anal Biochem , vol.183 , pp. 13-15
    • Tilzer, L.L.1    Thomas, S.M.2    Moreno, R.F.3
  • 22
    • 10144242646 scopus 로고    scopus 로고
    • Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one poly-imorphism
    • Bisceglia L, Calonge MJ, Dello L, Rizzoni G, De Sanctis L, Galluci M et al. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one poly-imorphism. Hum Genet 1996; 8: 447-451.
    • (1996) Hum Genet , vol.8 , pp. 447-451
    • Bisceglia, L.1    Calonge, M.J.2    Dello, L.3    Rizzoni, G.4    De Sanctis, L.5    Galluci, M.6
  • 25
    • 0015497585 scopus 로고
    • Amino acid excretion in infancy and early childhood: A survey of 200,000 infants
    • Turner B, Brown DA. Amino acid excretion in infancy and early childhood: a survey of 200,000 infants. Med J Aust 1972; 1: 62-65.
    • (1972) Med J Aust , vol.1 , pp. 62-65
    • Turner, B.1    Brown, D.A.2
  • 26
    • 0021978865 scopus 로고
    • Ontogeny modifies manifestations of cystinuria genes: Implications for counselling
    • Scriver CR, Clow CL, Reade TM, Goodyer PR. Ontogeny modifies manifestations of cystinuria genes: implications for counselling. J Pediatr 1985, 106: 411-416.
    • (1985) J Pediatr , vol.106 , pp. 411-416
    • Scriver, C.R.1    Clow, C.L.2    Reade, T.M.3    Goodyer, P.R.4
  • 27
    • 0039967600 scopus 로고
    • Massachussets metabolic disorders screening program
    • Harris M, editor. Washington, DC: U.S. Govt. Printing
    • Levy H, Shih VE, McCready RA. Massachussets metabolic disorders screening program. En: Harris M, editor. Early diagnosis of human genetic defects. Washington, DC: U.S. Govt. Printing, 1972; 47-66.
    • (1972) Early Diagnosis of Human Genetic Defects , pp. 47-66
    • Levy, H.1    Shih, V.E.2    McCready, R.A.3
  • 28
    • 0030955514 scopus 로고    scopus 로고
    • Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria
    • Endsley J, Phillips JA, Hruska KA, Dennenberg T, Carlson J, George AL. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int 1997; 51: 1.893-1.899.
    • (1997) Kidney Int , vol.51 , pp. 1893-1899
    • Endsley, J.1    Phillips, J.A.2    Hruska, K.A.3    Dennenberg, T.4    Carlson, J.5    George, A.L.6
  • 29
    • 1842376244 scopus 로고    scopus 로고
    • An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K
    • Chillaron J, Estévez R, Samarzija I, Waldegger S, Testar X, Lang F et al. An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K. J Biol Chem 1997; 272: 9.543-9.549.
    • (1997) J Biol Chem , vol.272 , pp. 9543-9549
    • Chillaron, J.1    Estévez, R.2    Samarzija, I.3    Waldegger, S.4    Testar, X.5    Lang, F.6
  • 30
    • 0031807024 scopus 로고    scopus 로고
    • Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype
    • Saadi I, Chen X, Hediger M, Ong P, Pereira P, Goodyer P et al. Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype. Kidney Int 1998; 54: 48-55.
    • (1998) Kidney Int , vol.54 , pp. 48-55
    • Saadi, I.1    Chen, X.2    Hediger, M.3    Ong, P.4    Pereira, P.5    Goodyer, P.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.