-
2
-
-
0027500142
-
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
-
Chelly J, Tumer Z, Tonnerson T, Petterson A, Ishikawa-Brush Y, Tommerup N et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993;3:14-9.
-
(1993)
Nat. Genet.
, vol.3
, pp. 14-19
-
-
Chelly, J.1
Tumer, Z.2
Tonnerson, T.3
Petterson, A.4
Ishikawa-Brush, Y.5
Tommerup, N.6
-
3
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
Mercer JFB, Livingston J, Hall BK, Paynter JA, Begy C, Chandrasekharappa S et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 1993;3:20-5.
-
(1993)
Nat. Genet.
, vol.3
, pp. 20-25
-
-
Mercer, J.F.B.1
Livingston, J.2
Hall, B.K.3
Paynter, J.A.4
Begy, C.5
Chandrasekharappa, S.6
-
4
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 1993;3:7-13.
-
(1993)
Nat. Genet.
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
6
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DC. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327-37.
-
(1993)
Nat. Genet.
, vol.5
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.C.5
-
7
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, 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;5:344-50.
-
(1993)
Nat. Genet.
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
-
8
-
-
0027431996
-
Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease
-
Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Common 1993;197:271-7.
-
(1993)
Biochem. Biophys. Res. Commun.
, vol.197
, pp. 271-277
-
-
Yamaguchi, Y.1
Heiny, M.E.2
Gitlin, J.D.3
-
9
-
-
0031981213
-
Wilson's disease: The scourge of copper
-
Gitlin N. Wilson's disease: the scourge of copper. J Hepatol 1998; 28:734-9.
-
(1998)
J. Hepatol.
, vol.28
, pp. 734-739
-
-
Gitlin, N.1
-
10
-
-
0030670304
-
Expression of Menkes disease gene in mammary carcinoma cells
-
Ackland ML, Cornish EJ, Paynter JA, Grimes A, Michalczyk A, Mercer JF. Expression of Menkes disease gene in mammary carcinoma cells. Biochem J 1997;328:237-43.
-
(1997)
Biochem. J.
, vol.328
, pp. 237-243
-
-
Ackland, M.L.1
Cornish, E.J.2
Paynter, J.A.3
Grimes, A.4
Michalczyk, A.5
Mercer, J.F.6
-
11
-
-
0032740023
-
Expression of Menkes copper-tranporting ATPase, MNK, in the lactating human breast: Possible role in copper transport into milk
-
Ackland M, Anikijenko P, Michalczyk A, Mercer J. Expression of Menkes copper-tranporting ATPase, MNK, in the lactating human breast: Possible role in copper transport into milk. J Histochem Cytochem 1999;47:1553-61.
-
(1999)
J. Histochem. Cytochem.
, vol.47
, pp. 1553-1561
-
-
Ackland, M.1
Anikijenko, P.2
Michalczyk, A.3
Mercer, J.4
-
12
-
-
0034535614
-
Defective localisation of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation
-
Michalczyk A, Rieger J, Allen K, Mercer J, Ackland M. Defective localisation of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation. Biochem J 2000;352:565-71.
-
(2000)
Biochem. J.
, vol.352
, pp. 565-571
-
-
Michalczyk, A.1
Rieger, J.2
Allen, K.3
Mercer, J.4
Ackland, M.5
-
13
-
-
0015384074
-
Menkes's kinky hair syndrome: An inherited defect in copper absorption with wide-spread effects
-
Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E. Menkes's kinky hair syndrome:an inherited defect in copper absorption with wide-spread effects. Pediatrics 1972;50:188-201.
-
(1972)
Pediatrics
, vol.50
, pp. 188-201
-
-
Danks, D.M.1
Campbell, P.E.2
Stevens, B.J.3
Mayne, V.4
Cartwright, E.5
-
14
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration
-
Menkes JH, Alter M, Stegleder GK, Weakley DR, Sung JH. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-79.
-
(1962)
Pediatrics
, vol.29
, pp. 764-779
-
-
Menkes, J.H.1
Alter, M.2
Stegleder, G.K.3
Weakley, D.R.4
Sung, J.H.5
-
15
-
-
0019452844
-
Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females
-
Horn N. Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females. Prenat Diagn 1981;1:107-20.
-
(1981)
Prenat. Diagn.
, vol.1
, pp. 107-120
-
-
Horn, N.1
-
16
-
-
0027162025
-
Copper disposition of the fetus and placenta in a patient with untreated Wilson's disease
-
Oga M, Matsui N, Anai T, Yoshimatsu J, Inoue I, Miyakawa I. Copper disposition of the fetus and placenta in a patient with untreated Wilson's disease. Am J Obstet Gynecol 1993;169:196-8.
-
(1993)
Am. J. Obstet. Gynecol.
, vol.169
, pp. 196-198
-
-
Oga, M.1
Matsui, N.2
Anai, T.3
Yoshimatsu, J.4
Inoue, I.5
Miyakawa, I.6
-
17
-
-
0018791655
-
Copper metabolism in mottled mouse mutants: Copper concentrations in tissues during development
-
Camakaris J, Mann JR, Danks DM. Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem J 1979;180:597-604.
-
(1979)
Biochem. J.
, vol.180
, pp. 597-604
-
-
Camakaris, J.1
Mann, J.R.2
Danks, D.M.3
-
19
-
-
0032878550
-
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular tranaformation
-
Buiakova O, Xu J, Lutsenko S, Zeitlin S, Das K, Das S. Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular tranaformation. Hum Mol Genet 1999;8:1665-71.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1665-1671
-
-
Buiakova, O.1
Xu, J.2
Lutsenko, S.3
Zeitlin, S.4
Das, K.5
Das, S.6
-
20
-
-
0029799960
-
The toxic milk mouse is a murine model of Wilson disease
-
Theophilos M, Cox DW, Mercer JFB. The toxic milk mouse is a murine model of Wilson disease. Hum Mol Genet 1996;5:1619-24.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1619-1624
-
-
Theophilos, M.1
Cox, D.W.2
Mercer, J.F.B.3
-
21
-
-
0020569082
-
Toxic milk, a new mutation affecting copper metabolism in the mouse
-
Rauch H. Toxic milk, a new mutation affecting copper metabolism in the mouse. J Hered 1983;74:141-4.
-
(1983)
J. Hered.
, vol.74
, pp. 141-144
-
-
Rauch, H.1
-
22
-
-
85025923601
-
Copper transport in Menkes' disease
-
Sarkar B, editor. New York: Raven Press
-
Danks DM, Camakaris J, Herd S, Mann JR, Phillips M. Copper transport in Menkes' disease. In: Sarkar B, editor. Biological aspects of metals and metal-related diseases. New York: Raven Press; 1983.
-
(1983)
Biological Aspects of Metals and Metal-Related Diseases
-
-
Danks, D.M.1
Camakaris, J.2
Herd, S.3
Mann, J.R.4
Phillips, M.5
-
23
-
-
0036200168
-
Maternal-fetal transport kinetics of copper, selenium, magnesium and iron in perfused human placental lobule: In vitro study
-
Nandakumaran M, Dashti HM, Al-Zaid NS. Maternal-fetal transport kinetics of copper, selenium, magnesium and iron in perfused human placental lobule: in vitro study. Mol Cell Biochem 2002;231:9-14.
-
(2002)
Mol. Cell Biochem.
, vol.231
, pp. 9-14
-
-
Nandakumaran, M.1
Dashti, H.M.2
Al-Zaid, N.S.3
-
24
-
-
0026694834
-
The accumulation of copper by microvillar vesicles isolated from human placenta
-
McArdle HJ, van den Berg GJ. The accumulation of copper by microvillar vesicles isolated from human placenta. J Nutr 1992; 122:1260-5.
-
(1992)
J. Nutr.
, vol.122
, pp. 1260-1265
-
-
McArdle, H.J.1
van den Berg, G.J.2
-
25
-
-
0035144248
-
Lysyl oxidases: Expression in the fetal membranes and placenta
-
Hein S, Yamamoto SY, Okazaki K, Jourdan-LeSaux C, Csiszar K, Bryant-Greenwood GD. Lysyl oxidases: expression in the fetal membranes and placenta. Placenta 2001;22:49-57.
-
(2001)
Placenta
, vol.22
, pp. 49-57
-
-
Hein, S.1
Yamamoto, S.Y.2
Okazaki, K.3
Jourdan-LeSaux, C.4
Csiszar, K.5
Bryant-Greenwood, G.D.6
-
26
-
-
0019219241
-
Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome
-
Royce PM, Camakaris J, Danks DM. reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J 1980; 192:579-86.
-
(1980)
Biochem. J.
, vol.192
, pp. 579-586
-
-
Royce, P.M.1
Camakaris, J.2
Danks, D.M.3
-
27
-
-
0032920935
-
Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver
-
Schaefer M, Hopkins RG, Failla ML, Gitlin JD. Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver. Am J Physiol 1999;276:G639-46.
-
(1999)
Am. J. Physiol.
, vol.276
-
-
Schaefer, M.1
Hopkins, R.G.2
Failla, M.L.3
Gitlin, J.D.4
-
28
-
-
0027381426
-
Menkes' disease: Perspective and update on a fatal copper disorder
-
Harris ED. Menkes' disease: perspective and update on a fatal copper disorder. Nutr Rev 1993;51:235-8.
-
(1993)
Nutr. Rev.
, vol.51
, pp. 235-238
-
-
Harris, E.D.1
-
29
-
-
0023664014
-
Rat ceruloplasmin. Molecular cloning and gene expression in liver, choroid plexus, yolk sac, placenta, and testis
-
Aldred AR, Grimes A, Schreiber G, Mercer JFB. Rat ceruloplasmin. Molecular cloning and gene expression in liver, choroid plexus, yolk sac, placenta, and testis. J Biol Chem 1987;262:2875-8.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 2875-2878
-
-
Aldred, A.R.1
Grimes, A.2
Schreiber, G.3
Mercer, J.F.B.4
-
30
-
-
0033665566
-
The effect of ceruloplasmin on iron release from placental (BeWo) cells; evidence for an endogenous Cu oxidase
-
Danzeisen R, Ponnambalam S, Lea RG, Page K, Gambling L, McArdle HJ. The effect of ceruloplasmin on iron release from placental (BeWo) cells; evidence for an endogenous Cu oxidase. Placenta 2000;21:805-12.
-
(2000)
Placenta
, vol.21
, pp. 805-812
-
-
Danzeisen, R.1
Ponnambalam, S.2
Lea, R.G.3
Page, K.4
Gambling, L.5
McArdle, H.J.6
-
31
-
-
0029785153
-
Coincident expression of Menkes gene with copper efflux in human placental cells
-
Qian Y, Majumdar S, Reddy MC, Harris ED. Coincident expression of Menkes gene with copper efflux in human placental cells. Am J Physiol 1996a;270:C1880-4.
-
(1996)
Am. J. Physiol.
, vol.270
-
-
Qian, Y.1
Majumdar, S.2
Reddy, M.C.3
Harris, E.D.4
-
32
-
-
0029773626
-
Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines)
-
Qian Y, Tiffany-Castiglione E, Harris ED. Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines). Am J Physiol Cell Physiol 1996b;40:C378-84.
-
(1996)
Am. J. Physiol. Cell Physiol.
, vol.40
-
-
Qian, Y.1
Tiffany-Castiglione, E.2
Harris, E.D.3
-
33
-
-
0031981977
-
Functional analysis of copper homeostasis in cell culture models: A new perspective on internal copper transport
-
Harris ED, Qian Y, Tiffany Castiglioni E, Lacy AR, Reddy MC. Functional analysis of copper homeostasis in cell culture models: a new perspective on internal copper transport. Am J Clin Nutr 1998;67:988s.
-
(1998)
Am. J. Clin. Nutr.
, vol.67
-
-
Harris, E.D.1
Qian, Y.2
Tiffany Castiglioni, E.3
Lacy, A.R.4
Reddy, M.C.5
-
34
-
-
0031017071
-
Lysyl Oxidase (ras Recision Gene) Expression in Human Amnion: Ontogeny and Cellular Localization
-
Casey ML, MacDonald P. Lysyl Oxidase (ras Recision Gene) Expression in Human Amnion: Ontogeny and Cellular Localization. J Clin Endocrinol Metab 1997;82:167-72.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 167-172
-
-
Casey, M.L.1
MacDonald, P.2
-
35
-
-
0033862878
-
Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion
-
Roelofsen H, Wolters H, Van-Luyn MJ, Miura N, Kuipers F, Vonk RJ. Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion. Gastroenterology 2000;119:782-93.
-
(2000)
Gastroenterology
, vol.119
, pp. 782-793
-
-
Roelofsen, H.1
Wolters, H.2
Van-Luyn, M.J.3
Miura, N.4
Kuipers, F.5
Vonk, R.J.6
-
36
-
-
0032734949
-
Localization of the Wilson's disease protein in human liver
-
Schaefer M, Roelofsen H, Wolters H, Hofmann WJ, Muller M, Kuipers F, Stremmel W, Vonk RJ. Localization of the Wilson's disease protein in human liver. Gastroenterology 1999b;117:1380-5.
-
(1999)
Gastroenterology
, vol.117
, pp. 1380-1385
-
-
Schaefer, M.1
Roelofsen, H.2
Wolters, H.3
Hofmann, W.J.4
Muller, M.5
Kuipers, F.6
Stremmel, W.7
Vonk, R.J.8
-
37
-
-
85030879807
-
Trace element transfer from the mother ot the newborn-investigations on triplets of colostrum, maternal, and umbilical cord sera
-
Roussel et al. Ed. Kluwer Academic/Plenum Publishers, New York
-
Krachler M, Rossipal E, Micetic-Turk D. Trace element transfer from the mother ot the newborn-investigations on triplets of colostrum, maternal, and umbilical cord sera. Roussel et al. Ed. Trace Elements in Man and Animals 10. Kluwer Academic/Plenum Publishers, New York.
-
Trace Elements in Man and Animals 10
-
-
Krachler, M.1
Rossipal, E.2
Micetic-Turk, D.3
|