-
1
-
-
0002772644
-
Cystinuria
-
Edited by C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle. New York: McGraw-Hill Book Co.
-
Segal, S. and Thier, S. O.: Cystinuria. In: The Metabolic Basis of Inherited Disease, 6th ed. Edited by C. R. Scriver, A. L. Beaudet, W. S. Sly and D. Valle. New York: McGraw-Hill Book Co., pp. 2479-2496, 1989.
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Ed.
, pp. 2479-2496
-
-
Segal, S.1
Thier, S.O.2
-
2
-
-
0001047679
-
On cystic oxide, a new species of urinary calculus
-
Wollaston, W. H.: On cystic oxide, a new species of urinary calculus. Phil. Trans. Roy. Soc. London, 100: 223, 1810.
-
(1810)
Phil. Trans. Roy. Soc. London
, vol.100
, pp. 223
-
-
Wollaston, W.H.1
-
3
-
-
0346454648
-
Pattern of amino acid excretion in cystinuria
-
Harris, H., Mittwoch, U., Robson, E. B. and Warren, F. L.: Pattern of amino acid excretion in cystinuria. Ann. Hum. Genet., 19: 196, 1955.
-
(1955)
Ann. Hum. Genet.
, vol.19
, pp. 196
-
-
Harris, H.1
Mittwoch, U.2
Robson, E.B.3
Warren, F.L.4
-
4
-
-
0002633756
-
Phenotypes and genotypes in cystinuria
-
Harris, H., Mittwoch, U., Robson, E. B. and Warren, F. L.: Phenotypes and genotypes in cystinuria. Ann. Hum. Genet. 20: 57, 1955.
-
(1955)
Ann. Hum. Genet.
, vol.20
, pp. 57
-
-
Harris, H.1
Mittwoch, U.2
Robson, E.B.3
Warren, F.L.4
-
5
-
-
0013887059
-
Cystinuria: Biochemical evidence for three genetically distinct diseases
-
Rosenberg, L. E., Downing, S. E., Durnat, J. L. and Segal, S.: Cystinuria: biochemical evidence for three genetically distinct diseases. J. Clin. Invest., 45: 365, 1966.
-
(1966)
J. Clin. Invest.
, vol.45
, pp. 365
-
-
Rosenberg, L.E.1
Downing, S.E.2
Durnat, J.L.3
Segal, S.4
-
6
-
-
0043213227
-
The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulphur-containing amino-acids
-
Dent, C. E., Senior, B. and Walshe, J. M.: The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulphur-containing amino-acids. J. Clin. Invest., 33: 1216, 1954.
-
(1954)
J. Clin. Invest.
, vol.33
, pp. 1216
-
-
Dent, C.E.1
Senior, B.2
Walshe, J.M.3
-
7
-
-
0018913446
-
Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules
-
Foreman, J. W., Hwang, S. M. and Segal, S.: Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules. Metabolism, 29: 53, 1980.
-
(1980)
Metabolism
, vol.29
, pp. 53
-
-
Foreman, J.W.1
Hwang, S.M.2
Segal, S.3
-
8
-
-
0019461272
-
Cystine uptake by rat renal brush-border vesicles
-
McNamara, P. D., Pepe, L. M. and Segal, S.: Cystine uptake by rat renal brush-border vesicles. Biochem. J., 194: 443, 1981.
-
(1981)
Biochem. J.
, vol.194
, pp. 443
-
-
McNamara, P.D.1
Pepe, L.M.2
Segal, S.3
-
9
-
-
0001541303
-
The concentrations of cysteine and cystine in human blood plasma
-
Brigham, M. P., Stein, W. H. and Moore, S.: The concentrations of cysteine and cystine in human blood plasma. J. Clin. Invest., 39: 1633, 1960.
-
(1960)
J. Clin. Invest.
, vol.39
, pp. 1633
-
-
Brigham, M.P.1
Stein, W.H.2
Moore, S.3
-
10
-
-
0026741842
-
Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids
-
Bertran, J., Werner, A., Moore, M. L., Stange, G., Markovich, D., Biber, J., Testar, X., Zorzano, A., Palacin, M. and Murer, H.: Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids. Proc. Natl. Acad Sci., 89: 5601, 1992.
-
(1992)
Proc. Natl. Acad Sci.
, vol.89
, pp. 5601
-
-
Bertran, J.1
Werner, A.2
Moore, M.L.3
Stange, G.4
Markovich, D.5
Biber, J.6
Testar, X.7
Zorzano, A.8
Palacin, M.9
Murer, H.10
-
11
-
-
0026500961
-
Expression cloning of a Na (+)-independent neutral amino acid transporter from rat kidney
-
Tate, S. S., Yan, N. and Udenfriend, S.: Expression cloning of a Na (+)-independent neutral amino acid transporter from rat kidney. Proc. Natl. Acad. Sci., 89: 1, 1992.
-
(1992)
Proc. Natl. Acad. Sci.
, vol.89
, pp. 1
-
-
Tate, S.S.1
Yan, N.2
Udenfriend, S.3
-
12
-
-
0026755231
-
Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases
-
Wells, R. G. and Hediger, M. A.: Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases. Proc. Nat. Acad. Sci., 89: 5596, 1992.
-
(1992)
Proc. Nat. Acad. Sci.
, vol.89
, pp. 5596
-
-
Wells, R.G.1
Hediger, M.A.2
-
13
-
-
0027326170
-
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., Chillarón, J., Nunes, V., Biber, J., Testar, X., Zorzano, A., Estivill, X., Murer, H. and 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, 1993.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 14842
-
-
Bertran, J.1
Werner, A.2
Chillarón, J.3
Nunes, V.4
Biber, J.5
Testar, X.6
Zorzano, A.7
Estivill, X.8
Murer, H.9
Palacin, M.10
-
14
-
-
0027276858
-
Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport
-
Lee, W. S., Wells, R. G., Sabbag, R. V., Mohandas, T. K. and Hediger, M. A.: Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J. Clin. Invest., 91: 1959, 1993.
-
(1993)
J. Clin. Invest.
, vol.91
, pp. 1959
-
-
Lee, W.S.1
Wells, R.G.2
Sabbag, R.V.3
Mohandas, T.K.4
Hediger, M.A.5
-
15
-
-
0029100842
-
Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
-
Gasparini, P., Calonge, M.J., Bisceglia, L., Purroy, J., Dianzani, I., Notarangelo, A., Rousaud, F., Gallucci, M., Testar, X., Ponzone, A., Estivill, X., Zorzano, A., Palacin, M., Nunes, V. and Zelante, L.: Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Amer. J. Hum. Genet., 57: 781, 1995.
-
(1995)
Amer. J. Hum. Genet.
, vol.57
, pp. 781
-
-
Gasparini, P.1
Calonge, M.J.2
Bisceglia, L.3
Purroy, J.4
Dianzani, I.5
Notarangelo, A.6
Rousaud, F.7
Gallucci, M.8
Testar, X.9
Ponzone, A.10
Estivill, X.11
Zorzano, A.12
Palacin, M.13
Nunes, V.14
Zelante, L.15
-
16
-
-
0029934548
-
Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in type I patients
-
Horsford, J., Saadi, I., Raelson, J., Goodyer, P. R. and Rozen, R.: Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients. Kidney Int., 49: 1401, 1996.
-
(1996)
Kidney Int.
, vol.49
, pp. 1401
-
-
Horsford, J.1
Saadi, I.2
Raelson, J.3
Goodyer, P.R.4
Rozen, R.5
-
17
-
-
0029061119
-
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
-
Calonge, M. J., Nadal, M., Calvano, S., Testar, X., Zelante, L., Zorzano, A., Estivill, X, Gasparini, P., Palacin, M. and Nunes, V.: Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Hum. Genet., 95: 633, 1995.
-
(1995)
Hum. Genet.
, vol.95
, pp. 633
-
-
Calonge, M.J.1
Nadal, M.2
Calvano, S.3
Testar, X.4
Zelante, L.5
Zorzano, A.6
Estivill, X.7
Gasparini, P.8
Palacin, M.9
Nunes, V.10
-
18
-
-
0028025452
-
Characterization of the promoter region of the gene for the rat neutral and basic amino acid transporter and chromosomal localization of the human gene
-
Van, N., Mosckovitz, R., Gerber, L.D., Mathew, S., Murty, V. V., Tate, S. S. and Udenfriend, S.: Characterization of the promoter region of the gene for the rat neutral and basic amino acid transporter and chromosomal localization of the human gene. Proc. Natl. Acad. Sci., 91: 7548, 1994.
-
(1994)
Proc. Natl. Acad. Sci.
, vol.91
, pp. 7548
-
-
Van, N.1
Mosckovitz, R.2
Gerber, L.D.3
Mathew, S.4
Murty, V.V.5
Tate, S.S.6
Udenfriend, S.7
-
19
-
-
0028556715
-
Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization
-
Zhang, X. X., Rozen, R., Hediger, M. A., Goodyer, P. and Eydoux, P.: Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization. Genomics, 24: 413, 1994.
-
(1994)
Genomics
, vol.24
, pp. 413
-
-
Zhang, X.X.1
Rozen, R.2
Hediger, M.A.3
Goodyer, P.4
Eydoux, P.5
-
20
-
-
85030286865
-
Membrane topology of the rat kidney neutral and basic amino acid transporter
-
Mosckovitz, R., Undenfriend, S., Felix, A., Heimer, E. and Tate, S. S.: Membrane topology of the rat kidney neutral and basic amino acid transporter. FASEB J. 8: 421, 1992.
-
(1992)
FASEB J.
, vol.8
, pp. 421
-
-
Mosckovitz, R.1
Undenfriend, S.2
Felix, A.3
Heimer, E.4
Tate, S.S.5
-
21
-
-
0026458644
-
Transporter explosion: Update and uptake
-
Uhl, G. R. and Hartig, P. R.: Transporter explosion: update and uptake. Trends Pharmacol. Sci., 13: 421, 1992.
-
(1992)
Trends Pharmacol. Sci.
, vol.13
, pp. 421
-
-
Uhl, G.R.1
Hartig, P.R.2
-
22
-
-
0027221635
-
Characterization of the rat neutral and basic amino acid transporter utilizing anti-peptide antibodies
-
Mosckovitz, R., Van, N., Heimer, E., Felix, A., Tate, S. S. and Undenfriend, S.: Characterization of the rat neutral and basic amino acid transporter utilizing anti-peptide antibodies. Proc. Natl. Acad. Sci., 90: 4022, 1993.
-
(1993)
Proc. Natl. Acad. Sci.
, vol.90
, pp. 4022
-
-
Mosckovitz, R.1
Van, N.2
Heimer, E.3
Felix, A.4
Tate, S.S.5
Undenfriend, S.6
-
23
-
-
0029020648
-
Oligomeric structure of a renal cystine transporter: Implications in cystinuria
-
Wang, Y. and Tate, S. S.: Oligomeric structure of a renal cystine transporter: implications in cystinuria. FEBS Let., 368: 389, 1995.
-
(1995)
FEBS Let.
, vol.368
, pp. 389
-
-
Wang, Y.1
Tate, S.S.2
-
24
-
-
0029052899
-
Heavy metal mediated inhibition of rBAT-induced amino acid transport
-
Waldegger, S., Schmidt, F., Herzer, T., Gulbins, E., Schuster, A., Biber, J., Markovich, D., Murer, H., Busch, A. E. and Lang, F.: Heavy metal mediated inhibition of rBAT-induced amino acid transport. Kidney Int., 47: 1677, 1995.
-
(1995)
Kidney Int.
, vol.47
, pp. 1677
-
-
Waldegger, S.1
Schmidt, F.2
Herzer, T.3
Gulbins, E.4
Schuster, A.5
Biber, J.6
Markovich, D.7
Murer, H.8
Busch, A.E.9
Lang, F.10
-
25
-
-
0026710597
-
Balanced translocation (14;20) in a mentally handicapped child with cystinuria
-
Sharland, M., Jones, M., Bain, M., Chalmers, R., Hammond, J. and Patton, M. A.: Balanced translocation (14;20) in a mentally handicapped child with cystinuria. J. Med. Genet., 29: 507, 1992.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 507
-
-
Sharland, M.1
Jones, M.2
Bain, M.3
Chalmers, R.4
Hammond, J.5
Patton, M.A.6
-
26
-
-
0028309007
-
Localization of a gene causing cystinuria to chromosome 2p
-
Pras, E., Arber, N., Aksentijevich, I., Katz, G., Schapiro, J. M., Prosen, L., Gruberg, L., Harel, D., Liberman, U., Weissenbach, J., Pras, M. and Kastner, D. L.: Localization of a gene causing cystinuria to chromosome 2p. Nature Genet., 6: 415, 1994.
-
(1994)
Nature Genet.
, vol.6
, pp. 415
-
-
Pras, E.1
Arber, N.2
Aksentijevich, I.3
Katz, G.4
Schapiro, J.M.5
Prosen, L.6
Gruberg, L.7
Harel, D.8
Liberman, U.9
Weissenbach, J.10
Pras, M.11
Kastner, D.L.12
-
27
-
-
0027510375
-
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
-
Goodyer, P. R., Clow, C., Reade, T. and Girardin, C.: Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J. Ped., 122: 568, 1993.
-
(1993)
J. Ped.
, vol.122
, pp. 568
-
-
Goodyer, P.R.1
Clow, C.2
Reade, T.3
Girardin, C.4
-
28
-
-
0028785882
-
Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to type I but not to type II cystinuria
-
Calonge, M. J., Volpini, V., Bisceglia, L., Rousaud, F., De Sanctis, L., Beccia, E., Zelante, L., Testar, X., Zorzano, A., Estivill, X., Gasparini, P., Nunes, V. and Palacin, M.: Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type II cystinuria. Proc. Nat. Acad. Sci., 92: 9667, 1995.
-
(1995)
Proc. Nat. Acad. Sci.
, vol.92
, pp. 9667
-
-
Calonge, M.J.1
Volpini, V.2
Bisceglia, L.3
Rousaud, F.4
De Sanctis, L.5
Beccia, E.6
Zelante, L.7
Testar, X.8
Zorzano, A.9
Estivill, X.10
Gasparini, P.11
Nunes, V.12
Palacin, M.13
-
29
-
-
0028237714
-
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
-
Calonge, M. J., Gasparini, P., Chillarón, J., Chillen, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F., Barcelo, P., Estivill, X., Zorzano, A., Nunes, V. and Palacin, M.: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet., 6: 420, 1994.
-
(1994)
Nature Genet.
, vol.6
, pp. 420
-
-
Calonge, M.J.1
Gasparini, P.2
Chillarón, J.3
Chillen, M.4
Gallucci, M.5
Rousaud, F.6
Zelante, L.7
Testar, X.8
Dallapiccola, B.9
Di Silverio, F.10
Barcelo, P.11
Estivill, X.12
Zorzano, A.13
Nunes, V.14
Palacin, M.15
-
30
-
-
0029027356
-
Mutations in the SLC3A1 transporter gene is cystinuria
-
Pras, E., Raben, N., Golomb, E., Arber, N., Aksentijevich, I., Schapiro, J. M., Harel, D., Katz, G., Liberman, U., Pras, M. and Kastner, D. L.: Mutations in the SLC3A1 transporter gene is cystinuria. Amer. J. Hum. Genet., 56: 1297, 1995.
-
(1995)
Amer. J. Hum. Genet.
, vol.56
, pp. 1297
-
-
Pras, E.1
Raben, N.2
Golomb, E.3
Arber, N.4
Aksentijevich, I.5
Schapiro, J.M.6
Harel, D.7
Katz, G.8
Liberman, U.9
Pras, M.10
Kastner, D.L.11
-
31
-
-
0029090036
-
Mutations of the basic amino acid trasporter gene associated with cystinuria
-
Miyamoto, K., Katai, K., Tatsumi, S., Sone, K., Segawa, H., Yamamoto, H., Taketani, Y., Takada, K., Monta, K., Kanayama, H., Kagawa, S. and Takeda, E.: Mutations of the basic amino acid trasporter gene associated with cystinuria. Biochem. J., part 3, 310: 951, 1995.
-
(1995)
Biochem. J.
, vol.310
, Issue.3 PART
, pp. 951
-
-
Miyamoto, K.1
Katai, K.2
Tatsumi, S.3
Sone, K.4
Segawa, H.5
Yamamoto, H.6
Taketani, Y.7
Takada, K.8
Monta, K.9
Kanayama, H.10
Kagawa, S.11
Takeda, E.12
-
32
-
-
85030290303
-
A 335 base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria
-
in press
-
Gitomer, W. L., Reed, B. Y., Ruml, L.A. and Pak, C. Y. C.: 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, in press.
-
Hum. Mutation
-
-
Gitomer, W.L.1
Reed, B.Y.2
Ruml, L.A.3
Pak, C.Y.C.4
-
33
-
-
85030285457
-
-
Unpublished data
-
Gitomer, W. L., Reed, B. Y., Ruml, L. A., Sakhaee, K., Lemke, M. and Pak, C. Y. C.: Unpublished data.
-
-
-
Gitomer, W.L.1
Reed, B.Y.2
Ruml, L.A.3
Sakhaee, K.4
Lemke, M.5
Pak, C.Y.C.6
|