-
1
-
-
0034007656
-
Medical treatment of cystinuria: Critical reappraisal of long-term results
-
Barbey F, Joly D, Rieu P, Mejean A, Daudon M, Jungers P. Medical treatment of cystinuria: critical reappraisal of long-term results. J Urol 163: 1419-1423, 2000.
-
(2000)
J Urol
, vol.163
, pp. 1419-1423
-
-
Barbey, F.1
Joly, D.2
Rieu, P.3
Mejean, A.4
Daudon, M.5
Jungers, P.6
-
2
-
-
33845683331
-
Increasing cannabinoid levels by pharmacological and genetic manipulation delay disease progression in SOD1 mice
-
Bilsland LG, Dick JR, Pryce G, Petrosino S, Di Marzo V, Baker D, Greensmith L. Increasing cannabinoid levels by pharmacological and genetic manipulation delay disease progression in SOD1 mice. FASEB J 20: 1003-1005, 2006.
-
(2006)
FASEB J
, vol.20
, pp. 1003-1005
-
-
Bilsland, L.G.1
Dick, J.R.2
Pryce, G.3
Petrosino, S.4
Di Marzo, V.5
Baker, D.6
Greensmith, L.7
-
3
-
-
0025869602
-
High-performance liquid chromatographic determination of urinary cysteine and cystine
-
Birwe H, Hesse A. High-performance liquid chromatographic determination of urinary cysteine and cystine. Clin Chim Acta 199: 33-42, 1991.
-
(1991)
Clin Chim Acta
, vol.199
, pp. 33-42
-
-
Birwe, H.1
Hesse, A.2
-
4
-
-
0028237714
-
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
-
Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, Barceló P, Estivill X, Zorzano A, Nunes V, Palacín M. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6: 420-425, 1994.
-
(1994)
Nat Genet
, vol.6
, pp. 420-425
-
-
Calonge, M.J.1
Gasparini, P.2
Chillarón, J.3
Chillón, M.4
Gallucci, M.5
Rousaud, F.6
Zelante, L.7
Testar, X.8
Dallapiccola, B.9
Di Silverio, F.10
Barceló, P.11
Estivill, X.12
Zorzano, A.13
Nunes, V.14
Palacín, M.15
-
5
-
-
0028785882
-
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, Zelante L, Testar X, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 92: 9667-9671, 1995.
-
(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
Zelante, L.7
Testar, X.8
Zorzano, A.9
Estivill, X.10
Gasparini, P.11
Nunes, V.12
Palacín, M.13
-
6
-
-
0344515442
-
Epidemiology of paediatric renal stone disease in the UK
-
Coward RJ, Peters CJ, Duffy PG, Corry D, Kellett MJ, Choong S, van't Hoff WG. Epidemiology of paediatric renal stone disease in the UK. Arch Dis Child 88: 962-965, 2003.
-
(2003)
Arch Dis Child
, vol.88
, pp. 962-965
-
-
Coward, R.J.1
Peters, C.J.2
Duffy, P.G.3
Corry, D.4
Kellett, M.J.5
Choong, S.6
van't Hoff, W.G.7
-
7
-
-
0019861965
-
Experience with penicillamine in the treatment of cystinuria
-
Crawhall JC. Experience with penicillamine in the treatment of cystinuria. J Rheumatol Suppl 7: 100-102, 1981.
-
(1981)
J Rheumatol Suppl
, vol.7
, pp. 100-102
-
-
Crawhall, J.C.1
-
8
-
-
0014343841
-
Some complications observed in the treatment of cystinuria with D- penicillamine and N-acetyl- D-penicillamine
-
Crawhall JC, Watts RW. Some complications observed in the treatment of cystinuria with D- penicillamine and N-acetyl- D-penicillamine. Postgrad Med J Suppl: 8-11, 1968.
-
(1968)
Postgrad Med J Suppl
, vol.8-11
-
-
Crawhall, J.C.1
Watts, R.W.2
-
9
-
-
0032849242
-
Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein
-
Chairoungdua A, Segawa H, Kim JY, Miyamoto K, Haga H, Fukui Y, Mizoguchi K, Ito H, Takeda E, Endou H, Kanai Y. Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein. J Biol Chem 274: 28845-28848, 1999.
-
(1999)
J Biol Chem
, vol.274
, pp. 28845-28848
-
-
Chairoungdua, A.1
Segawa, H.2
Kim, J.Y.3
Miyamoto, K.4
Haga, H.5
Fukui, Y.6
Mizoguchi, K.7
Ito, H.8
Takeda, E.9
Endou, H.10
Kanai, Y.11
-
10
-
-
0029853391
-
Medical treatment of cystinuria: Results of contemporary clinical practice
-
Chow GK, Streem SB. Medical treatment of cystinuria: results of contemporary clinical practice. J Urol 156: 1576-1578, 1996.
-
(1996)
J Urol
, vol.156
, pp. 1576-1578
-
-
Chow, G.K.1
Streem, S.B.2
-
11
-
-
0017764142
-
Clinical features and management of cystinuria
-
Dahlberg PJ, van den B, Kurtz SB, Wilson DM, Smith LH. Clinical features and management of cystinuria. Mayo Clin Proc 52: 533-542, 1977.
-
(1977)
Mayo Clin Proc
, vol.52
, pp. 533-542
-
-
Dahlberg, P.V.D.B.1
Kurtz, S.B.2
Wilson, D.M.3
Smith, L.H.4
-
13
-
-
18544381349
-
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: A need for a new classification
-
Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jiménez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 13: 2547-2553, 2002.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2547-2553
-
-
Dello Strologo, L.1
Pras, E.2
Pontesilli, C.3
Beccia, E.4
Ricci-Barbini, V.5
de Sanctis, L.6
Ponzone, A.7
Gallucci, M.8
Bisceglia, L.9
Zelante, L.10
Jiménez-Vidal, M.11
Font, M.12
Zorzano, A.13
Rousaud, F.14
Nunes, V.15
Gasparini, P.16
Palacín, M.17
Rizzoni, G.18
-
14
-
-
0033796392
-
Characteristics of pediatric urolithiasis in south-east Anatolia
-
Ece A, Ozdemir E, Gurkan F, Dokucu AI, Akdeniz O. Characteristics of pediatric urolithiasis in south-east Anatolia. Int J Urol 7: 330-334, 2000.
-
(2000)
Int J Urol
, vol.7
, pp. 330-334
-
-
Ece, A.1
Ozdemir, E.2
Gurkan, F.3
Dokucu, A.I.4
Akdeniz, O.5
-
15
-
-
0038071556
-
Pediatric urolithiasis - evaluation of risk factors in 95 children
-
Erbagci A, Erbagci AB, Yilmaz M, Yagci F, Tarakcioglu M, Yurtseven C, Koyluoglu O, Sarica K. Pediatric urolithiasis - evaluation of risk factors in 95 children. Scand J Urol Nephrol 37: 129-133, 2003.
-
(2003)
Scand J Urol Nephrol
, vol.37
, pp. 129-133
-
-
Erbagci, A.1
Erbagci, A.B.2
Yilmaz, M.3
Yagci, F.4
Tarakcioglu, M.5
Yurtseven, C.6
Koyluoglu, O.7
Sarica, K.8
-
16
-
-
0034950064
-
Pediatric urolithiasis
-
Faerber GJ. Pediatric urolithiasis. Curr Opin Urol 11: 385-389, 2001.
-
(2001)
Curr Opin Urol
, vol.11
, pp. 385-389
-
-
Faerber, G.J.1
-
17
-
-
10744223262
-
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
-
Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Hum Mol Genet 12: 2097-2108, 2003.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2097-2108
-
-
Feliubadaló, L.1
Arbonés, M.L.2
Mañas, S.3
Chillarón, J.4
Visa, J.5
Rodés, M.6
Rousaud, F.7
Zorzano, A.8
Palacín, M.9
Nunes, V.10
-
18
-
-
0032821201
-
o,+ AT) of rBAT. International Cystinuria Consortium
-
o,+ AT) of rBAT. International Cystinuria Consortium. Nat Genet 23: 52-57, 1999.
-
(1999)
Nat Genet
, vol.23
, pp. 52-57
-
-
Feliubadaló, L.1
Font, M.2
Purroy, J.3
Rousaud, F.4
Estivill, X.5
Nunes, V.6
Golomb, E.7
Centola, M.8
Aksentijevich, I.9
Kreiss, Y.10
Goldman, B.11
Pras, M.12
Kastner, D.L.13
Pras, E.14
Gasparini, P.15
Bisceglia, L.16
Beccia, E.17
Gallucci, M.18
de Sanctis, L.19
Ponzone, A.20
Rizzoni, G.F.21
Zelante, L.22
Bassi, M.T.23
George, A.L.24
Palacín, M.25
more..
-
19
-
-
0036720666
-
0,+ AT heterodimer is the main apical reabsorption system for cystine in the kidney
-
0,+ AT heterodimer is the main apical reabsorption system for cystine in the kidney. Am J Physiol Renal Physiol 283: F540-F548, 2002.
-
(2002)
Am J Physiol Renal Physiol
, vol.283
-
-
Fernández, E.1
Carrascal, M.2
Rousaud, F.3
Abián, J.4
Zorzano, A.5
Palacín, M.6
Chillarón, J.7
-
20
-
-
0035155658
-
Cystine analyses of separate day and night urine as a basis for the management of patients with homozygous cystinuria
-
Fjellstedt E, Denneberg T, Jeppsson JO, Christensson A, Tiselius HG. Cystine analyses of separate day and night urine as a basis for the management of patients with homozygous cystinuria. Urol Res 29: 303-310, 2001.
-
(2001)
Urol Res
, vol.29
, pp. 303-310
-
-
Fjellstedt, E.1
Denneberg, T.2
Jeppsson, J.O.3
Christensson, A.4
Tiselius, H.G.5
-
21
-
-
13244281811
-
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
-
Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 42: 58-68, 2005.
-
(2005)
J Med Genet
, vol.42
, pp. 58-68
-
-
Font-Llitjós, M.1
Jiménez-Vidal, M.2
Bisceglia, L.3
Di Perna, M.4
de Sanctis, L.5
Rousaud, F.6
Zelante, L.7
Palacín, M.8
Nunes, V.9
-
22
-
-
0035865031
-
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria
-
Font M, Feliubadaló 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, Fernández E, Zorzano A, Bertran J, Palacín M. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-type I cystinuria. Hum Mol Genet 10: 305-316, 2001.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 305-316
-
-
Font, M.1
Feliubadaló, L.2
Estivill, X.3
Nunes, V.4
Golomb, E.5
Kreiss, Y.6
Pras, E.7
Bisceglia, L.8
d'Adamo, A.P.9
Zelante, L.10
Gasparini, P.11
Bassi, M.T.12
George Jr, A.L.13
Manzoni, M.14
Riboni, M.15
Ballabio, A.16
Borsani, G.17
Reig, N.18
Fernández, E.19
Zorzano, A.20
Bertran, J.21
Palacín, M.22
more..
-
23
-
-
0842284714
-
Applications of the ninhydrin reaction for analysis of amino acids, peptides, and proteins to agricultural and biomedical sciences
-
Friedman M. Applications of the ninhydrin reaction for analysis of amino acids, peptides, and proteins to agricultural and biomedical sciences. J Agric Food Chem 52: 385-406, 2004.
-
(2004)
J Agric Food Chem
, vol.52
, pp. 385-406
-
-
Friedman, M.1
-
25
-
-
7544226844
-
The molecular basis of cystinuria
-
Goodyer P. The molecular basis of cystinuria. Nephron Exp Nephrol 98: e45-e49, 2004.
-
(2004)
Nephron Exp Nephrol
, vol.98
-
-
Goodyer, P.1
-
26
-
-
33746224183
-
Penicillamine and nephrotic syndrome
-
Habib GS, Saliba W, Nashashibi M, Armali Z. Penicillamine and nephrotic syndrome. Eur J Intern Med 17: 343-348, 2006.
-
(2006)
Eur J Intern Med
, vol.17
, pp. 343-348
-
-
Habib, G.S.1
Saliba, W.2
Nashashibi, M.3
Armali, Z.4
-
27
-
-
0022502799
-
Comparison of 2-mercaptopropionylglycine and D-penicillamine in the treatment of cystinuria
-
Harbar JA, Cusworth DC, Lawes LC, Wrong OM. Comparison of 2-mercaptopropionylglycine and D-penicillamine in the treatment of cystinuria. J Urol 136: 146-149, 1986.
-
(1986)
J Urol
, vol.136
, pp. 146-149
-
-
Harbar, J.A.1
Cusworth, D.C.2
Lawes, L.C.3
Wrong, O.M.4
-
28
-
-
11244353250
-
Cystinuria in childhood and adolescence: Recommendations for diagnosis, treatment, and follow-up
-
Knoll T, Zollner A, Wendt-Nordahl G, Michel MS, Alken P. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol 20: 19-24, 2005.
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 19-24
-
-
Knoll, T.1
Zollner, A.2
Wendt-Nordahl, G.3
Michel, M.S.4
Alken, P.5
-
29
-
-
33748793667
-
Pregnane X receptor (PXR) activation: A mechanism for neuroprotection in a mouse model of Niemann-Pick C disease
-
Langmade SJ, Gale SE, Frolov A, Mohri I, Suzuki K, Mellon SH, Walkley SU, Covey DF, Schaffer JE, Ory DS. Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease. Proc Natl Acad Sci USA 103: 13807-13812, 2006.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 13807-13812
-
-
Langmade, S.J.1
Gale, S.E.2
Frolov, A.3
Mohri, I.4
Suzuki, K.5
Mellon, S.H.6
Walkley, S.U.7
Covey, D.F.8
Schaffer, J.E.9
Ory, D.S.10
-
30
-
-
0036406524
-
SLC7A9 mutations in all three cystinuria subtypes
-
Leclerc D, Boutros M, Suh D, Wu Q, Palacín M, Ellis JR, Goodyer P, Rozen R. SLC7A9 mutations in all three cystinuria subtypes. Kidney Int 62: 1550-1559, 2002.
-
(2002)
Kidney Int
, vol.62
, pp. 1550-1559
-
-
Leclerc, D.1
Boutros, M.2
Suh, D.3
Wu, Q.4
Palacín, M.5
Ellis, J.R.6
Goodyer, P.7
Rozen, R.8
-
32
-
-
0023032829
-
Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine
-
Pak CY, Fuller C, Sakhaee K, Zerwekh JE, Adams BV. Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine. J Urol 136: 1003-1008, 1986.
-
(1986)
J Urol
, vol.136
, pp. 1003-1008
-
-
Pak, C.Y.1
Fuller, C.2
Sakhaee, K.3
Zerwekh, J.E.4
Adams, B.V.5
-
34
-
-
18244391732
-
The genetics of heteromeric amino acid transporters
-
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda) 20: 112-124, 2005.
-
(2005)
Physiology (Bethesda)
, vol.20
, pp. 112-124
-
-
Palacín, M.1
Nunes, V.2
Font-Llitjós, M.3
Jiménez-Vidal, M.4
Fort, J.5
Gasol, E.6
Pineda, M.7
Feliubadaló, L.8
Chillarón, J.9
Zorzano, A.10
-
35
-
-
0031926062
-
Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine
-
Pastore A, Massoud R, Motti C, Lo Russo A, Fucci G, Cortese C, Federici G. Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine. Clin Chem 44: 825-832, 1998.
-
(1998)
Clin Chem
, vol.44
, pp. 825-832
-
-
Pastore, A.1
Massoud, R.2
Motti, C.3
Lo Russo, A.4
Fucci, G.5
Cortese, C.6
Federici, G.7
-
36
-
-
0032714690
-
Luminal heterodimeric amino acid transporter defective in cystinuria
-
Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kuhn LC, Verrey F. Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell 10: 4135-4147, 1999.
-
(1999)
Mol Biol Cell
, vol.10
, pp. 4135-4147
-
-
Pfeiffer, R.1
Loffing, J.2
Rossier, G.3
Bauch, C.4
Meier, C.5
Eggermann, T.6
Loffing-Cueni, D.7
Kuhn, L.C.8
Verrey, F.9
-
37
-
-
0031302281
-
Clinical aspects of cystinuria
-
Pierides AM. Clinical aspects of cystinuria. Contrib Nephrol 122: 167-172, 1997.
-
(1997)
Contrib Nephrol
, vol.122
, pp. 167-172
-
-
Pierides, A.M.1
-
38
-
-
0033635516
-
Cystinuria at the turn of the millennium: Clinical aspects and new molecular developments
-
Pras E. Cystinuria at the turn of the millennium: clinical aspects and new molecular developments. Mol Urol 4: 409-414, 2000.
-
(2000)
Mol Urol
, vol.4
, pp. 409-414
-
-
Pras, E.1
-
39
-
-
33748324384
-
-
R Development-Core-Team, Vienna: R Foundation for Statistical Computing
-
R Development-Core-Team. R: A Language and Environment for Statistical Computing. Vienna: R Foundation for Statistical Computing, 2006.
-
(2006)
R: A Language and Environment for Statistical Computing
-
-
-
40
-
-
0037119974
-
o,+ is fully functional in the absence of the heavy subunit
-
o,+ is fully functional in the absence of the heavy subunit. EMBO J 21: 4906-4914, 2002.
-
(2002)
EMBO J
, vol.21
, pp. 4906-4914
-
-
Reig, N.1
Chillarón, J.2
Bartoccioni, P.3
Fernández, E.4
Bendahan, A.5
Zorzano, A.6
Kanner, B.7
Palacín, M.8
Bertran, J.9
-
41
-
-
17144400758
-
Low dose oral cannabinoid therapy reduces progression of atherosclerosis in mice
-
Steffens S, Veillard NR, Arnaud C, Pelli G, Burger F, Staub C, Karsak M, Zimmer A, Frossard JL, Mach F. Low dose oral cannabinoid therapy reduces progression of atherosclerosis in mice. Nature 434: 782-786, 2005.
-
(2005)
Nature
, vol.434
, pp. 782-786
-
-
Steffens, S.1
Veillard, N.R.2
Arnaud, C.3
Pelli, G.4
Burger, F.5
Staub, C.6
Karsak, M.7
Zimmer, A.8
Frossard, J.L.9
Mach, F.10
-
42
-
-
33745941325
-
Effective therapy for a murine model of human anaplastic large-cell lymphoma with the anti-CD30 monoclonal antibody, HeFi-1, does not require activating Fc receptors
-
Zhang M, Yao Z, Zhang Z, Garmestani K, Goldman CK, Ravetch JV, Janik J, Brechbiel MW, Waldmann TA. Effective therapy for a murine model of human anaplastic large-cell lymphoma with the anti-CD30 monoclonal antibody, HeFi-1, does not require activating Fc receptors. Blood 108: 705-710, 2006.
-
(2006)
Blood
, vol.108
, pp. 705-710
-
-
Zhang, M.1
Yao, Z.2
Zhang, Z.3
Garmestani, K.4
Goldman, C.K.5
Ravetch, J.V.6
Janik, J.7
Brechbiel, M.W.8
Waldmann, T.A.9
|