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Volumn 60, Issue 3, 1997, Pages 617-624

Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 19Q; CLINICAL ARTICLE; CYSTINURIA; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; JEW; LIBYAN ARAB JAMAHIRIYA; MALE; PRIORITY JOURNAL;

EID: 0031029375     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (73)

References (40)
  • 1
    • 0027448693 scopus 로고
    • Familial Mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis
    • Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, et al (1993) Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis. Am J Hum Genet 53:644-651
    • (1993) Am J Hum Genet , vol.53 , pp. 644-651
    • Aksentijevich, I.1    Pras, E.2    Gruberg, L.3    Shen, Y.4    Holman, K.5    Helling, S.6    Prosen, L.7
  • 2
    • 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, et al (1993) 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) 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
  • 7
    • 0000448550 scopus 로고
    • Amino acid metabolism in cystinuria
    • Dent CE, Rose GA (1951) Amino acid metabolism in cystinuria. Q J Med 20:205-219
    • (1951) Q J Med , vol.20 , pp. 205-219
    • Dent, C.E.1    Rose, G.A.2
  • 8
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 9
    • 0027754167 scopus 로고
    • rBAT, related to L-cystine transport, is localized to the microvilli of the proximal straight tubules, and its expression is regulated in kidney development
    • Furriols M, Chillaron J, Mora C, Castello A, Bertran J, Camps M, Testar X, et al (1993) rBAT, related to L-cystine transport, is localized to the microvilli of the proximal straight tubules, and its expression is regulated in kidney development. J Biol Chem 268:27060-27068
    • (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
  • 10
    • 0028997456 scopus 로고
    • A continuous high resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of chromosome 19
    • Garcia E, Elliot J, Gorvad A, Brandriff B, Gordon L, Soliman KM, Ashworth LK, et al (1995) A continuous high resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of chromosome 19. Genomics 27:52-66
    • (1995) Genomics , vol.27 , pp. 52-66
    • Garcia, E.1    Elliot, J.2    Gorvad, A.3    Brandriff, B.4    Gordon, L.5    Soliman, K.M.6    Ashworth, L.K.7
  • 11
    • 0029100842 scopus 로고
    • Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
    • Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, et al (1995) Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet 57:781-788
    • (1995) Am J Hum Genet , vol.57 , pp. 781-788
    • Gasparini, P.1    Calonge, M.J.2    Bisceglia, L.3    Purroy, J.4    Dianzani, I.5    Notarangelo, A.6    Rousaud, F.7
  • 12
    • 0027510375 scopus 로고
    • Prospective analysis and classification of patients with cystinuria identified in newborn screening program
    • Goodyer PR, Clow C, Reade T, Girardin C (1993) Prospective analysis and classification of patients with cystinuria identified in newborn screening program. J Pediatr 122:568-572
    • (1993) J Pediatr , vol.122 , pp. 568-572
    • Goodyer, P.R.1    Clow, C.2    Reade, T.3    Girardin, C.4
  • 15
    • 0016565853 scopus 로고
    • Linkage disequilibrium among multiple neutral alleles produced by mutation in Finite population
    • Hill WG (1975) Linkage disequilibrium among multiple neutral alleles produced by mutation in Finite population. Theor Popul Biol 8:117-126
    • (1975) Theor Popul Biol , vol.8 , pp. 117-126
    • Hill, W.G.1
  • 16
    • 0029934548 scopus 로고    scopus 로고
    • Molecular genetics of cystinuria in the French Canadians: Identification of four novel mutations in type I patients
    • Horsford J, Saadi I, Raelson J, Goodyer PR, Rosen R (1996) Molecular genetics of cystinuria in the French Canadians: identification of four novel mutations in type I patients. Kidney Int 49:1401-1406
    • (1996) Kidney Int , vol.49 , pp. 1401-1406
    • Horsford, J.1    Saadi, I.2    Raelson, J.3    Goodyer, P.R.4    Rosen, R.5
  • 17
    • 0000732266 scopus 로고
    • The estimation of map distances from recombination values
    • Kosambi DD (1944) The estimation of map distances from recombination values. Ann Eugenics 12:172-175
    • (1944) Ann Eugenics , vol.12 , pp. 172-175
    • Kosambi, D.D.1
  • 18
    • 0028857541 scopus 로고
    • Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
    • Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56:519-527
    • (1995) Am J Hum Genet , vol.56 , pp. 519-527
    • Kruglyak, L.1    Daly, M.J.2    Lander, E.S.3
  • 20
    • 0027276858 scopus 로고
    • Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport
    • Lee W-S, Wells RG, Sabbag RV, Mohandas TK, Hediger MA (1993) 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) J Clin Invest , vol.91 , pp. 1959-1963
    • Lee, W.-S.1    Wells, R.G.2    Sabbag, R.V.3    Mohandas, T.K.4    Hediger, M.A.5
  • 21
    • 0015354306 scopus 로고
    • Massachusetts metabolic disorders screening program. I. Technics and results of urine screening
    • Levy HL, Madigan PM, Shih VE (1972) Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. Pediatrics 49:825-836
    • (1972) Pediatrics , vol.49 , pp. 825-836
    • Levy, H.L.1    Madigan, P.M.2    Shih, V.E.3
  • 24
    • 0019461272 scopus 로고
    • Cystine uptake by the rat renal brush-border vesicles
    • McNamara PD, Pepe LM, Segal S (1981) Cystine uptake by the rat renal brush-border vesicles. Biochem J 194:443-449
    • (1981) Biochem J , vol.194 , pp. 443-449
    • McNamara, P.D.1    Pepe, L.M.2    Segal, S.3
  • 25
    • 0026544184 scopus 로고
    • Ion dependence of cystine and lysine uptake by rat renal brush-border membrane vesicles
    • McNamara PD, Rea CT, Segal S (1992) Ion dependence of cystine and lysine uptake by rat renal brush-border membrane vesicles. Biochim Biophys Acta 1103:101-108
    • (1992) Biochim Biophys Acta , vol.1103 , pp. 101-108
    • McNamara, P.D.1    Rea, C.T.2    Segal, S.3
  • 28
    • 0028099656 scopus 로고
    • Membrane topology of the rat kidney neutral and basic amino acid transporter
    • Mosckovitz R, Udenfriend S, Felix A, Heimer E, Tate SS (1994) Membrane topology of the rat kidney neutral and basic amino acid transporter. FASEB J 8:1069-1074
    • (1994) FASEB J , vol.8 , pp. 1069-1074
    • Mosckovitz, R.1    Udenfriend, S.2    Felix, A.3    Heimer, E.4    Tate, S.S.5
  • 33
  • 34
    • 0013887059 scopus 로고
    • Cystinuria: Biochemical evidence for three genetically distinct diseases
    • Rosenberg LE, Downing S, Durant JL, Segal S (1966a) Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest 45:365-371
    • (1966) J Clin Invest , vol.45 , pp. 365-371
    • Rosenberg, L.E.1    Downing, S.2    Durant, J.L.3    Segal, S.4
  • 36
    • 0017741058 scopus 로고
    • Transport interactions of cystine and dibasic amino acids in renal brush border vesicles
    • Segal S, McNamara PD, Pepe LM (1977) Transport interactions of cystine and dibasic amino acids in renal brush border vesicles. Science 197:169-171
    • (1977) Science , vol.197 , pp. 169-171
    • Segal, S.1    McNamara, P.D.2    Pepe, L.M.3
  • 37
    • 0029020648 scopus 로고
    • Oligomeric structure of a renal cystine transporter: Implications in cystinuria
    • Wang Y, Tate SS (1995) Oligomeric structure of a renal cystine transporter: implications in cystinuria. FEBS Lett 368:389-392
    • (1995) FEBS Lett , vol.368 , pp. 389-392
    • Wang, Y.1    Tate, S.S.2
  • 40
    • 0018096472 scopus 로고
    • Testing hypotheses about linkage disequilibrium with multiple alleles
    • Weir BS, Cockerham CC (1978) Testing hypotheses about linkage disequilibrium with multiple alleles. Genetics 88: 633-642
    • (1978) Genetics , vol.88 , pp. 633-642
    • Weir, B.S.1    Cockerham, C.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.