-
2
-
-
33846582913
-
Wilson's disease
-
Ala A., Walker A.P., Ashkan K., Dooley J.S., Schilsky M.L. Wilson's disease. Lancet 2007, 369(9559):397-408.
-
(2007)
Lancet
, vol.369
, Issue.9559
, pp. 397-408
-
-
Ala, A.1
Walker, A.P.2
Ashkan, K.3
Dooley, J.S.4
Schilsky, M.L.5
-
3
-
-
0345059398
-
Wilson disease
-
Gitlin J.D. Wilson disease. Gastroenterology 2003, 125(6):1868-1877.
-
(2003)
Gastroenterology
, vol.125
, Issue.6
, pp. 1868-1877
-
-
Gitlin, J.D.1
-
4
-
-
0000852301
-
Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease)
-
Scheinberg I.H., Gitlin D. Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease). Science 1952, 116(3018):484-485.
-
(1952)
Science
, vol.116
, Issue.3018
, pp. 484-485
-
-
Scheinberg, I.H.1
Gitlin, D.2
-
5
-
-
0023734612
-
Eight closely linked loci place the Wilson disease locus within 13q14-q21
-
Bowcock A.M., Farrer L.A., Hebert J.M., Agger M., Sternlieb I., Scheinberg I.H., et al. Eight closely linked loci place the Wilson disease locus within 13q14-q21. Am J Hum Genet 1988, 43(5):664-674.
-
(1988)
Am J Hum Genet
, vol.43
, Issue.5
, pp. 664-674
-
-
Bowcock, A.M.1
Farrer, L.A.2
Hebert, J.M.3
Agger, M.4
Sternlieb, I.5
Scheinberg, I.H.6
-
6
-
-
0342372868
-
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus
-
Frydman M., Bonné-Tamir B., Farrer L.A., Conneally P.M., Magazanik A., Ashbel S., et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci U S A 1985, 82(6):1819-1821.
-
(1985)
Proc Natl Acad Sci U S A
, vol.82
, Issue.6
, pp. 1819-1821
-
-
Frydman, M.1
Bonné-Tamir, B.2
Farrer, L.A.3
Conneally, P.M.4
Magazanik, A.5
Ashbel, S.6
-
7
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993, 5(4):344-350.
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
-
8
-
-
0028242939
-
Wilson disease and Menkes disease: new handles on heavy-metal transport
-
Bull P.C., Cox D.W. Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet 1994, 10(7):246-252.
-
(1994)
Trends Genet
, vol.10
, Issue.7
, pp. 246-252
-
-
Bull, P.C.1
Cox, D.W.2
-
9
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4):327-337.
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
10
-
-
0028869945
-
The Wilson disease gene: spectrum of mutations and their consequences
-
Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9(2):210-217.
-
(1995)
Nat Genet
, vol.9
, Issue.2
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
11
-
-
37049036616
-
Sequence variation database for the Wilson disease copper transporter, ATP7B
-
Kenney S.M., Cox D.W. Sequence variation database for the Wilson disease copper transporter, ATP7B. Hum Mutat 2007, 28(12):1171-1177. http://www.wilsondisease.med.ualberta.ca/database.asp.
-
(2007)
Hum Mutat
, vol.28
, Issue.12
, pp. 1171-1177
-
-
Kenney, S.M.1
Cox, D.W.2
-
13
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
Figus A., Angius A., Loudianos G., Bertini C., Dessi V., Loi A., et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 1995, 57(6):1318-1324.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.6
, pp. 1318-1324
-
-
Figus, A.1
Angius, A.2
Loudianos, G.3
Bertini, C.4
Dessi, V.5
Loi, A.6
-
14
-
-
16944366995
-
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses
-
Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 1997, 61(2):317-328.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.2
, pp. 317-328
-
-
Shah, A.B.1
Chernov, I.2
Zhang, H.T.3
Ross, B.M.4
Das, K.5
Lutsenko, S.6
-
16
-
-
0030012456
-
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
-
Chuang L.M., Wu H.P., Jang M.H., Wang T.R., Sue W.C., Lin B.J., et al. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 1996, 33(6):521-523.
-
(1996)
J Med Genet
, vol.33
, Issue.6
, pp. 521-523
-
-
Chuang, L.M.1
Wu, H.P.2
Jang, M.H.3
Wang, T.R.4
Sue, W.C.5
Lin, B.J.6
-
17
-
-
0030971764
-
Haplotype and mutation analysis in Japanese patients with Wilson disease
-
Nanji M.S., Nguyen V.T., Kawasoe J.H., Inui K., Endo F., Nakajima T., et al. Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 1997, 60(6):1423-1429.
-
(1997)
Am J Hum Genet
, vol.60
, Issue.6
, pp. 1423-1429
-
-
Nanji, M.S.1
Nguyen, V.T.2
Kawasoe, J.H.3
Inui, K.4
Endo, F.5
Nakajima, T.6
-
18
-
-
0345480774
-
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
-
Kim E.K., Yoo O.J., Song K.Y., Yoo H.W., Choi S.Y., Cho S.W., et al. Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 1998, 11(4):275-278.
-
(1998)
Hum Mutat
, vol.11
, Issue.4
, pp. 275-278
-
-
Kim, E.K.1
Yoo, O.J.2
Song, K.Y.3
Yoo, H.W.4
Choi, S.Y.5
Cho, S.W.6
-
19
-
-
0034974763
-
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease
-
Wu Z.Y., Wang N., Lin M.T., Fang L., Murong S.X., Yu L. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol 2001, 58(6):971-976.
-
(2001)
Arch Neurol
, vol.58
, Issue.6
, pp. 971-976
-
-
Wu, Z.Y.1
Wang, N.2
Lin, M.T.3
Fang, L.4
Murong, S.X.5
Yu, L.6
-
20
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y., Heiny M.E., Gitlin J.D. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 1993, 197(1):271-277.
-
(1993)
Biochem Biophys Res Commun
, vol.197
, Issue.1
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
-
21
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
-
Petrukhin K., Lutsenko S., Chernov I., Ross B.M., Kaplan J.H., Gilliam T.C. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 1994, 3(9):1647-1656.
-
(1994)
Hum Mol Genet
, vol.3
, Issue.9
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
22
-
-
0027427695
-
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene
-
Petrukhin K., Fischer S.G., Pirastu M., Tanzi R.E., Chernov I., Devoto M., et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 1993, 5(4):338-343.
-
(1993)
Nat Genet
, vol.5
, Issue.4
, pp. 338-343
-
-
Petrukhin, K.1
Fischer, S.G.2
Pirastu, M.3
Tanzi, R.E.4
Chernov, I.5
Devoto, M.6
-
23
-
-
0034535614
-
Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation
-
Michalczyk A.A., Rieger J., Allen K.J., Mercer J.F., Ackland M.L. Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation. Biochem J 2000, 352:565-571.
-
(2000)
Biochem J
, vol.352
, pp. 565-571
-
-
Michalczyk, A.A.1
Rieger, J.2
Allen, K.J.3
Mercer, J.F.4
Ackland, M.L.5
-
24
-
-
0032734949
-
Localization of the Wilson's disease protein in human liver
-
Schaefer M., Roelofsen H., Wolters H., Hofmann W.J., Müller M., Kuipers F., et al. Localization of the Wilson's disease protein in human liver. Gastroenterology 1999, 117(6):1380-1385.
-
(1999)
Gastroenterology
, vol.117
, Issue.6
, pp. 1380-1385
-
-
Schaefer, M.1
Roelofsen, H.2
Wolters, H.3
Hofmann, W.J.4
Müller, M.5
Kuipers, F.6
-
25
-
-
19944433044
-
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein
-
Harada M., Kawaguchi T., Kumemura H., Terada K., Ninomiya H., Taniguchi E., et al. The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Am J Pathol 2005, 166(2):499-510.
-
(2005)
Am J Pathol
, vol.166
, Issue.2
, pp. 499-510
-
-
Harada, M.1
Kawaguchi, T.2
Kumemura, H.3
Terada, K.4
Ninomiya, H.5
Taniguchi, E.6
-
26
-
-
0032568610
-
Localization of the Wilson's disease protein product to mitochondria
-
Lutsenko S., Cooper M.J. Localization of the Wilson's disease protein product to mitochondria. Proc Natl Acad Sci U S A 1998, 95(11):6004-6009.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, Issue.11
, pp. 6004-6009
-
-
Lutsenko, S.1
Cooper, M.J.2
-
27
-
-
0032995679
-
Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B
-
Terada K., Aiba N., Yang X.L., Iida M., Nakai M., Miura N., et al. Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B. FEBS Lett 1999, 448(1):53-56.
-
(1999)
FEBS Lett
, vol.448
, Issue.1
, pp. 53-56
-
-
Terada, K.1
Aiba, N.2
Yang, X.L.3
Iida, M.4
Nakai, M.5
Miura, N.6
-
28
-
-
0033862878
-
Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion
-
Roelofsen H., Wolters H., Van Luyn M.J., Miura N., Kuipers F., Vonk R.J. Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion. Gastroenterology 2000, 119(3):782-793.
-
(2000)
Gastroenterology
, vol.119
, Issue.3
, pp. 782-793
-
-
Roelofsen, H.1
Wolters, H.2
Van Luyn, M.J.3
Miura, N.4
Kuipers, F.5
Vonk, R.J.6
-
29
-
-
0035139204
-
The Wilson's disease gene and phenotypic diversity
-
Riordan S.M., Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001, 34(1):165-171.
-
(2001)
J Hepatol
, vol.34
, Issue.1
, pp. 165-171
-
-
Riordan, S.M.1
Williams, R.2
-
30
-
-
0036801448
-
Molecular mechanism of copper transport in Wilson disease
-
Fatemi N., Sarkar B. Molecular mechanism of copper transport in Wilson disease. Environ Health Perspect 2002, 5(Suppl. 110):695-698.
-
(2002)
Environ Health Perspect
, vol.5
, Issue.SUPPL. 110
, pp. 695-698
-
-
Fatemi, N.1
Sarkar, B.2
-
31
-
-
0036820685
-
Structural and functional insights of Wilson disease copper-transporting ATPase
-
Fatemi N., Sarkar B. Structural and functional insights of Wilson disease copper-transporting ATPase. J Bioenerg Biomembr 2002, 34(5):339-349.
-
(2002)
J Bioenerg Biomembr
, vol.34
, Issue.5
, pp. 339-349
-
-
Fatemi, N.1
Sarkar, B.2
-
32
-
-
3042781148
-
Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites
-
Cater M.A., Forbes J., La Fontaine S., Cox D., Mercer J.F. Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites. Biochem J 2004, 380:805-813.
-
(2004)
Biochem J
, vol.380
, pp. 805-813
-
-
Cater, M.A.1
Forbes, J.2
La Fontaine, S.3
Cox, D.4
Mercer, J.F.5
-
33
-
-
0034700982
-
Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase
-
DiDonato M., Hsu H.F., Narindrasorasak S., Que L., Sarkar B. Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase. Biochemistry 2000, 39(7):1890-1896.
-
(2000)
Biochemistry
, vol.39
, Issue.7
, pp. 1890-1896
-
-
DiDonato, M.1
Hsu, H.F.2
Narindrasorasak, S.3
Que, L.4
Sarkar, B.5
-
34
-
-
0035965241
-
Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase
-
Vanderwerf S.M., Cooper M.J., Stetsenko I.V., Lutsenko S. Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase. J Biol Chem 2001, 276(39):36289-36294.
-
(2001)
J Biol Chem
, vol.276
, Issue.39
, pp. 36289-36294
-
-
Vanderwerf, S.M.1
Cooper, M.J.2
Stetsenko, I.V.3
Lutsenko, S.4
-
35
-
-
33645754710
-
Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations
-
Dmitriev O., Tsivkovskii R., Abildgaard F., Morgan C.T., Markley J.L., Lutsenko S. Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations. Proc Natl Acad Sci U S A 2006, 103(14):5302-5307.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, Issue.14
, pp. 5302-5307
-
-
Dmitriev, O.1
Tsivkovskii, R.2
Abildgaard, F.3
Morgan, C.T.4
Markley, J.L.5
Lutsenko, S.6
-
36
-
-
4344689863
-
The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F
-
Morgan C.T., Tsivkovskii R., Kosinsky Y.A., Efremov R.G., Lutsenko S. The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. J Biol Chem 2004, 279(35):36363-36371.
-
(2004)
J Biol Chem
, vol.279
, Issue.35
, pp. 36363-36371
-
-
Morgan, C.T.1
Tsivkovskii, R.2
Kosinsky, Y.A.3
Efremov, R.G.4
Lutsenko, S.5
-
37
-
-
4444271369
-
Wilson disease
-
Lippincott Williams & Wilkins, Philadelphia, E.R. Schiff (Ed.)
-
Schilsky M., Tavill A.S. Wilson disease. Disease of the liver 2003, 1169-1186. Lippincott Williams & Wilkins, Philadelphia. 9th ed. E.R. Schiff (Ed.).
-
(2003)
Disease of the liver
, pp. 1169-1186
-
-
Schilsky, M.1
Tavill, A.S.2
-
39
-
-
33644857818
-
XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders
-
Mufti A.R., Burstein E., Csomos R.A., Graf P.C., Wilkinson J.C., Dick R.D., et al. XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders. Mol Cell 2006, 21(6):775-785.
-
(2006)
Mol Cell
, vol.21
, Issue.6
, pp. 775-785
-
-
Mufti, A.R.1
Burstein, E.2
Csomos, R.A.3
Graf, P.C.4
Wilkinson, J.C.5
Dick, R.D.6
-
40
-
-
33747029284
-
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing
-
Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006, 120(2):151-159.
-
(2006)
Hum Genet
, vol.120
, Issue.2
, pp. 151-159
-
-
Ferenci, P.1
-
41
-
-
33746972553
-
Phenotype-genotype correlations in Wilson Disease (WD)-results of a multinational study
-
Ferenci P., Merle U., FolhoVer A., Evstatiev R., Yurdaydin C., Bruha R., et al. Phenotype-genotype correlations in Wilson Disease (WD)-results of a multinational study. Hepatology 2005, 42(Suppl. 1):258A.
-
(2005)
Hepatology
, vol.42
, Issue.SUPPL. 1
-
-
Ferenci, P.1
Merle, U.2
FolhoVer, A.3
Evstatiev, R.4
Yurdaydin, C.5
Bruha, R.6
-
42
-
-
0035171548
-
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis
-
Caca K., Ferenci P., Kuhn H.J., Polli C., Willgerodt H., Kunath B., et al. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J Hepatol 2001, 35:575-581.
-
(2001)
J Hepatol
, vol.35
, pp. 575-581
-
-
Caca, K.1
Ferenci, P.2
Kuhn, H.J.3
Polli, C.4
Willgerodt, H.5
Kunath, B.6
-
43
-
-
0032852326
-
A study of Wilson disease mutations in Britain
-
Curtis D., Durkie M., Balac P., Sheard D., Goodeve A., Peake I., et al. A study of Wilson disease mutations in Britain. Hum Mutat 1999, 14:304-311.
-
(1999)
Hum Mutat
, vol.14
, pp. 304-311
-
-
Curtis, D.1
Durkie, M.2
Balac, P.3
Sheard, D.4
Goodeve, A.5
Peake, I.6
-
44
-
-
26244434931
-
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease
-
Vrabelova S., Letocha O., Borsky M., Kozak L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Genet Metab 2005, 86:277-285.
-
(2005)
Genet Metab
, vol.86
, pp. 277-285
-
-
Vrabelova, S.1
Letocha, O.2
Borsky, M.3
Kozak, L.4
-
45
-
-
0037082977
-
Common mutations of ATP7B in Wilson disease patients from Hungary
-
Firneisz G., Lakatos P.L., Szalay F., Polli C., Glant T.T., Ferenci P. Common mutations of ATP7B in Wilson disease patients from Hungary. Am J Med Genet 2002, 108:23-28.
-
(2002)
Am J Med Genet
, vol.108
, pp. 23-28
-
-
Firneisz, G.1
Lakatos, P.L.2
Szalay, F.3
Polli, C.4
Glant, T.T.5
Ferenci, P.6
-
46
-
-
0038153106
-
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia
-
Loudianos G., Kostic V., Solinas P., Lovicu M., Dessi V., Svetel M., et al. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia. Genet Test 2003, 7:107-112.
-
(2003)
Genet Test
, vol.7
, pp. 107-112
-
-
Loudianos, G.1
Kostic, V.2
Solinas, P.3
Lovicu, M.4
Dessi, V.5
Svetel, M.6
-
47
-
-
28644438204
-
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
-
Gromadzka G., Schmidt H.H., Genschel J., Bochow B., Rodo M., Tarnacka B., et al. Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin Genet 2005, 68(6):524-532.
-
(2005)
Clin Genet
, vol.68
, Issue.6
, pp. 524-532
-
-
Gromadzka, G.1
Schmidt, H.H.2
Genschel, J.3
Bochow, B.4
Rodo, M.5
Tarnacka, B.6
-
48
-
-
0033033261
-
The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease
-
Ivanova-Smolenskaya I.A., Ovchinnikov I.V., Karabanov A.V., Deineko N.L., Poleshchuk V.V., Markova E.D., et al. The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. J Med Genet 1999, 36:174.
-
(1999)
J Med Genet
, vol.36
, pp. 174
-
-
Ivanova-Smolenskaya, I.A.1
Ovchinnikov, I.V.2
Karabanov, A.V.3
Deineko, N.L.4
Poleshchuk, V.V.5
Markova, E.D.6
-
49
-
-
27544502303
-
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population
-
Todorov T., Savov A., Jelev H., Panteleeva E., Konstantinova D., Krustev Z., et al. Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. Clin Genet 2005, 68:474-476.
-
(2005)
Clin Genet
, vol.68
, pp. 474-476
-
-
Todorov, T.1
Savov, A.2
Jelev, H.3
Panteleeva, E.4
Konstantinova, D.5
Krustev, Z.6
-
50
-
-
7144256225
-
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population
-
Loudianos G., Dessi V., Lovicu M., Angius A., Nurchi A., Sturniolo G.C., et al. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat 1998, 12:89-94.
-
(1998)
Hum Mutat
, vol.12
, pp. 89-94
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Nurchi, A.5
Sturniolo, G.C.6
-
51
-
-
0032710179
-
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
-
Loudianos G., Dessi V., Lovicu M., Angius A., Altuntas B., Giacchino R., et al. Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. J Med Genet 1999, 36:833-836.
-
(1999)
J Med Genet
, vol.36
, pp. 833-836
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Altuntas, B.5
Giacchino, R.6
-
52
-
-
9644308138
-
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
-
Panagiotakaki E., Tzetis M., Manolaki N., Loudianos G., Papatheodorou A., Manesis E., et al. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A 2004, 131(2):168-173.
-
(2004)
Am J Med Genet A
, vol.131
, Issue.2
, pp. 168-173
-
-
Panagiotakaki, E.1
Tzetis, M.2
Manolaki, N.3
Loudianos, G.4
Papatheodorou, A.5
Manesis, E.6
-
53
-
-
0345170773
-
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
-
Gu Y.H., Kodama H., Du S.L., Gu Q.J., Sun H.J., Ushijima H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin Genet 2003, 64:479-484.
-
(2003)
Clin Genet
, vol.64
, pp. 479-484
-
-
Gu, Y.H.1
Kodama, H.2
Du, S.L.3
Gu, Q.J.4
Sun, H.J.5
Ushijima, H.6
-
54
-
-
0033993020
-
Identification and analysis of mutations of the Wilson disease gene in Chinese population
-
Wu Z., Wang N., Murong S., Lin M. Identification and analysis of mutations of the Wilson disease gene in Chinese population. Chin Med J (Engl) 2000, 113:40-43.
-
(2000)
Chin Med J (Engl)
, vol.113
, pp. 40-43
-
-
Wu, Z.1
Wang, N.2
Murong, S.3
Lin, M.4
-
55
-
-
1542284697
-
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease
-
Liu X.Q., Zhang Y.F., Liu T.T., Hsiao K.J., Zhang J.M., Gu X.F., et al. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 2004, 10(4):590-593.
-
(2004)
World J Gastroenterol
, vol.10
, Issue.4
, pp. 590-593
-
-
Liu, X.Q.1
Zhang, Y.F.2
Liu, T.T.3
Hsiao, K.J.4
Zhang, J.M.5
Gu, X.F.6
-
56
-
-
0028820678
-
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
-
Figus A., Angius A., Loudianos O., Bertini C., Dessi V., Loi A., et al. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. Am J Hum Genet 1995, 57:1318-1324.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1318-1324
-
-
Figus, A.1
Angius, A.2
Loudianos, O.3
Bertini, C.4
Dessi, V.5
Loi, A.6
-
57
-
-
0032835347
-
Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect
-
Loudianos G., Dessi V., Lovicu M., Angius A., Figus A., Lilliu F., et al. Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect. Hum Mutat 1999, 14(4):294-303.
-
(1999)
Hum Mutat
, vol.14
, Issue.4
, pp. 294-303
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Figus, A.5
Lilliu, F.6
-
58
-
-
20944443019
-
Mutation analysis of Wilson disease in the Spanish population-identification of a prevalent substitution and eight novel mutations in the ATP7B gene
-
Margarit E., Bach V., Gomez D., Bruguera M., Jara P., Queralt R., et al. Mutation analysis of Wilson disease in the Spanish population-identification of a prevalent substitution and eight novel mutations in the ATP7B gene. Clin Genet 2005, 68:61-68.
-
(2005)
Clin Genet
, vol.68
, pp. 61-68
-
-
Margarit, E.1
Bach, V.2
Gomez, D.3
Bruguera, M.4
Jara, P.5
Queralt, R.6
-
59
-
-
0033651947
-
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands. Spain): a genetic and clinical study
-
Garcia-Villareal L., Daniels S., Shaw S.H., Cotton D., Galvin M., Geskes J., et al. High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands. Spain): a genetic and clinical study. Hepatology 2000, 32:1329-1336.
-
(2000)
Hepatology
, vol.32
, pp. 1329-1336
-
-
Garcia-Villareal, L.1
Daniels, S.2
Shaw, S.H.3
Cotton, D.4
Galvin, M.5
Geskes, J.6
-
60
-
-
33644568200
-
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients
-
Deguti M.M., Genschel J., Cancado E.L., Barbosa E.R., Bochow B., Mucenic M., et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat 2004, 398:1-8.
-
(2004)
Hum Mutat
, vol.398
, pp. 1-8
-
-
Deguti, M.M.1
Genschel, J.2
Cancado, E.L.3
Barbosa, E.R.4
Bochow, B.5
Mucenic, M.6
-
61
-
-
1242269899
-
Clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations
-
Al Jumah M., Majumdar R., Al Rajeh S., Awada A., Al Zaben A., Al Traif I., et al. Clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations. Eur J Neurol 2004, 11:121-124.
-
(2004)
Eur J Neurol
, vol.11
, pp. 121-124
-
-
Al Jumah, M.1
Majumdar, R.2
Al Rajeh, S.3
Awada, A.4
Al Zaben, A.5
Al Traif, I.6
-
62
-
-
33646827879
-
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients
-
Gupta A., Aikath D., Neogi R., Datta S., Basu K., Maity B., et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 2005, 118(1):49-57.
-
(2005)
Hum Genet
, vol.118
, Issue.1
, pp. 49-57
-
-
Gupta, A.1
Aikath, D.2
Neogi, R.3
Datta, S.4
Basu, K.5
Maity, B.6
-
63
-
-
17644379343
-
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype
-
Kumar S., Thapa B.R., Kaur G., Prasad R. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype. Clin Genet 2005, 67(5):443-445.
-
(2005)
Clin Genet
, vol.67
, Issue.5
, pp. 443-445
-
-
Kumar, S.1
Thapa, B.R.2
Kaur, G.3
Prasad, R.4
-
64
-
-
0034071017
-
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease
-
Okada T., Shiono Y., Hayashi H., Satoh H., Sawada T., Suzuki A., et al. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Hum Mutat 2000, 15(5):454-462.
-
(2000)
Hum Mutat
, vol.15
, Issue.5
, pp. 454-462
-
-
Okada, T.1
Shiono, Y.2
Hayashi, H.3
Satoh, H.4
Sawada, T.5
Suzuki, A.6
-
65
-
-
0029587266
-
A novel RNA splicing mutation in Japanese patients with Wilson disease
-
Shimizu N., Kawase C., Nakazono H., Hemmi H., Shimatake H., Aoki T. A novel RNA splicing mutation in Japanese patients with Wilson disease. Biochem Biophys Res Commun 1995, 217:16-20.
-
(1995)
Biochem Biophys Res Commun
, vol.217
, pp. 16-20
-
-
Shimizu, N.1
Kawase, C.2
Nakazono, H.3
Hemmi, H.4
Shimatake, H.5
Aoki, T.6
-
66
-
-
7244220246
-
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis
-
Stapelbroek J.M., Bollen C.W., van Amstel J.K., van Erpecum K.J., van Hattum J., van den Berg L.H., et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol 2004, 41(5):758-763.
-
(2004)
J Hepatol
, vol.41
, Issue.5
, pp. 758-763
-
-
Stapelbroek, J.M.1
Bollen, C.W.2
van Amstel, J.K.3
van Erpecum, K.J.4
van Hattum, J.5
van den Berg, L.H.6
-
67
-
-
0242609994
-
Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease
-
Cullen L.M., Prat L., Cox D.W. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet 2003, 64(5):429-432.
-
(2003)
Clin Genet
, vol.64
, Issue.5
, pp. 429-432
-
-
Cullen, L.M.1
Prat, L.2
Cox, D.W.3
-
68
-
-
27444442101
-
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations
-
Møller L.B., Ott P., Lund C., Horn N. Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations. Am J Med Genet A 2005, 138(4):340-343.
-
(2005)
Am J Med Genet A
, vol.138
, Issue.4
, pp. 340-343
-
-
Møller, L.B.1
Ott, P.2
Lund, C.3
Horn, N.4
-
69
-
-
36448983237
-
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
-
De Bie P., Muller P., Wijmenga C., Klomp L.W. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet 2007, 44(11):673-688.
-
(2007)
J Med Genet
, vol.44
, Issue.11
, pp. 673-688
-
-
De Bie, P.1
Muller, P.2
Wijmenga, C.3
Klomp, L.W.4
-
70
-
-
37549012199
-
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity
-
Mak C.M., Lam C.W., Tam S., Lai C.L., Chan L.Y., Fan S.T., et al. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. J Hum Genet 2008, 53(1):55-63.
-
(2008)
J Hum Genet
, vol.53
, Issue.1
, pp. 55-63
-
-
Mak, C.M.1
Lam, C.W.2
Tam, S.3
Lai, C.L.4
Chan, L.Y.5
Fan, S.T.6
-
71
-
-
33947513398
-
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients
-
Santhosh S., Shaji R.V., Eapen C.E., Jayanthi V., Malathi S., Chandy M., et al. ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Indian J Gastroenterol 2006, 25(6):277-282.
-
(2006)
Indian J Gastroenterol
, vol.25
, Issue.6
, pp. 277-282
-
-
Santhosh, S.1
Shaji, R.V.2
Eapen, C.E.3
Jayanthi, V.4
Malathi, S.5
Chandy, M.6
-
72
-
-
78649751481
-
Identification of mutations in the P-type ATPase (ATP7B) gene responsible for Wilson's disease (WD) for exon 18 in the North Indian population
-
Siddiqui S.N., Thelma B.K., Vivekanandhan S., Goyal V., Jain D.C., Acharya S.K., et al. Identification of mutations in the P-type ATPase (ATP7B) gene responsible for Wilson's disease (WD) for exon 18 in the North Indian population. Mov Disord 2008, vol. 23(Suppl. 1):S48.
-
(2008)
Mov Disord
, vol.23
, Issue.SUPPL. 1
-
-
Siddiqui, S.N.1
Thelma, B.K.2
Vivekanandhan, S.3
Goyal, V.4
Jain, D.C.5
Acharya, S.K.6
-
73
-
-
34548498606
-
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset
-
Leggio L., Malandrino N., Loudianos G., Abenavoli L., Lepori M.B., Capristo E., et al. Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset. Dig Dis Sci 2007, 52(10):2570-2575.
-
(2007)
Dig Dis Sci
, vol.52
, Issue.10
, pp. 2570-2575
-
-
Leggio, L.1
Malandrino, N.2
Loudianos, G.3
Abenavoli, L.4
Lepori, M.B.5
Capristo, E.6
-
74
-
-
0029068234
-
H714Q mutation in Wilson disease is associated with late, neurological presentation
-
Houwen R.H., Juyn J., Hoogenraad T.U., Ploos van Amstel J.K., Berger R. H714Q mutation in Wilson disease is associated with late, neurological presentation. J Med Genet 1995, 32(6):480-482.
-
(1995)
J Med Genet
, vol.32
, Issue.6
, pp. 480-482
-
-
Houwen, R.H.1
Juyn, J.2
Hoogenraad, T.U.3
Ploos van Amstel, J.K.4
Berger, R.5
-
75
-
-
0033975764
-
The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
-
Schiefermeier M., Kollegger H., Madl C., Polli C., Oder W., Kühn H., et al. The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 2000, 123:585-590.
-
(2000)
Brain
, vol.123
, pp. 585-590
-
-
Schiefermeier, M.1
Kollegger, H.2
Madl, C.3
Polli, C.4
Oder, W.5
Kühn, H.6
-
76
-
-
28644432641
-
COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology
-
Coronado V.A., Bonneville J.A., Nazer H., Roberts E.A., Cox D.W. COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology. Clin Genet 2005, 68(6):548-551.
-
(2005)
Clin Genet
, vol.68
, Issue.6
, pp. 548-551
-
-
Coronado, V.A.1
Bonneville, J.A.2
Nazer, H.3
Roberts, E.A.4
Cox, D.W.5
-
77
-
-
0142149219
-
The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein
-
Tao T.Y., Liu F., Klomp L., Wijmenga C., Gitlin J.D. The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 2003, 278(43):41593-41596.
-
(2003)
J Biol Chem
, vol.278
, Issue.43
, pp. 41593-41596
-
-
Tao, T.Y.1
Liu, F.2
Klomp, L.3
Wijmenga, C.4
Gitlin, J.D.5
-
78
-
-
0037308563
-
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis
-
Müller T., van de Sluis B., Zhernakova A., van Binsbergen E., Janecke A.R., Bavdekar A., et al. The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. J Hepatol 2003, 38(2):164-168.
-
(2003)
J Hepatol
, vol.38
, Issue.2
, pp. 164-168
-
-
Müller, T.1
van de Sluis, B.2
Zhernakova, A.3
van Binsbergen, E.4
Janecke, A.R.5
Bavdekar, A.6
-
79
-
-
33646240127
-
Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels
-
Weiss K.H., Merle U., Schaefer M., Ferenci P., Fullekrug J., Stremmel W. Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels. World J Gastroenterol 2006, 12(14):2239-2242.
-
(2006)
World J Gastroenterol
, vol.12
, Issue.14
, pp. 2239-2242
-
-
Weiss, K.H.1
Merle, U.2
Schaefer, M.3
Ferenci, P.4
Fullekrug, J.5
Stremmel, W.6
-
80
-
-
0242690424
-
The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis
-
Klomp A.E., van de Sluis B., Klomp L.W., Wijmenga C. The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis. J Hepatol 2003, 39(5):703-709.
-
(2003)
J Hepatol
, vol.39
, Issue.5
, pp. 703-709
-
-
Klomp, A.E.1
van de Sluis, B.2
Klomp, L.W.3
Wijmenga, C.4
-
81
-
-
33646349507
-
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease
-
Wu Z.Y., Zhao G.X., Chen W.J., Wang N., Wan B., Lin M.T., et al. Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. J Mol Med 2006, 84(5):438-442.
-
(2006)
J Mol Med
, vol.84
, Issue.5
, pp. 438-442
-
-
Wu, Z.Y.1
Zhao, G.X.2
Chen, W.J.3
Wang, N.4
Wan, B.5
Lin, M.T.6
-
82
-
-
0023733037
-
Diagnosis and treatment of presymptomatic Wilson's disease
-
Walshe J.M. Diagnosis and treatment of presymptomatic Wilson's disease. Lancet 1988, 2(8608):435-437.
-
(1988)
Lancet
, vol.2
, Issue.8608
, pp. 435-437
-
-
Walshe, J.M.1
-
83
-
-
0028153176
-
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers
-
Loudianos G., Figus A.L., Loi A., Angius A., Dessì V., Deiana M. Improvement of prenatal diagnosis of Wilson disease using microsatellite markers. Prenat Diagn 1994, 14(10):999-1002.
-
(1994)
Prenat Diagn
, vol.14
, Issue.10
, pp. 999-1002
-
-
Loudianos, G.1
Figus, A.L.2
Loi, A.3
Angius, A.4
Dessì, V.5
Deiana, M.6
|