-
1
-
-
0028964642
-
Menkes disease
-
Bankier, A. (1995). Menkes disease. J. Med. Genet. 32, 213-215.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 213-215
-
-
Bankier, A.1
-
2
-
-
0023698022
-
Morphological and chemical studies on a murine mutation (toxic milk) resulting in hepatic copper toxicosis
-
Biempica, L., Rauch, H., Quintana, N., and Sternlieb, I. (1988). Morphological and chemical studies on a murine mutation (toxic milk) resulting in hepatic copper toxicosis. Lab. Invest. 59, 500-508.
-
(1988)
Lab. Invest.
, vol.59
, pp. 500-508
-
-
Biempica, L.1
Rauch, H.2
Quintana, N.3
Sternlieb, I.4
-
3
-
-
0018897589
-
X-linked cutis laxa: Defective cross-link formation in collagen due to decreased lysyl oxidase activity
-
Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., and Hall, J. G. (1980). X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. New Eng. J. Med. 303, 61-65.
-
(1980)
New Eng. J. Med.
, vol.303
, pp. 61-65
-
-
Byers, P.H.1
Siegel, R.C.2
Holbrook, K.A.3
Narayanan, A.S.4
Bornstein, P.5
Hall, J.G.6
-
4
-
-
0031052386
-
The mottled mouse as a model for human Menkes disease: Identification of mutations in the Atp7a gene
-
Cecchi, C., Biasotto, M., Tosi, M., and Avner, P. (1997). The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum. Molec. Genet. 6, 425-433.
-
(1997)
Hum. Molec. Genet.
, vol.6
, pp. 425-433
-
-
Cecchi, C.1
Biasotto, M.2
Tosi, M.3
Avner, P.4
-
5
-
-
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., Horn, N., and Monaco, A. P. (1993). Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3, 14-19.
-
(1993)
Nature 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
Horn, N.7
Monaco, A.P.8
-
6
-
-
0028923703
-
Genes of the copper pathway
-
Cox, D. W. (1995). Genes of the copper pathway. Am. J. Hum. Genet. 56, 828-834.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 828-834
-
-
Cox, D.W.1
-
7
-
-
0000386450
-
Disorders of copper transport
-
C. R. Scriver, A. L. Beaudet, W. M. Sly and D. Valle, eds. (New York: McGraw-Hill)
-
Danks, D. M. (1995). Disorders of copper transport. In The metabolic and molecular basis of inherited disease, C. R. Scriver, A. L. Beaudet, W. M. Sly and D. Valle, eds. (New York: McGraw-Hill), pp. 2211-2235.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 2211-2235
-
-
Danks, D.M.1
-
8
-
-
0023759753
-
The mild form of Menkes disease: Progress report on the original case
-
Danks, D. M. (1988). The mild form of Menkes disease: progress report on the original case. J. Med. Genet. 30, 859-864.
-
(1988)
J. Med. Genet.
, vol.30
, pp. 859-864
-
-
Danks, D.M.1
-
9
-
-
0015384074
-
Menkes's kinky hair syndrome:An inherited defect in copper absorption with wide-spread effects
-
Danks, D. M., Campbell, P. E., Stevens, B. J., Mayne, V., and Cartwright, E. (1972). Menkes's kinky hair syndrome:an inherited defect in copper absorption with wide-spread effects. Pediatrics 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
-
10
-
-
0028957864
-
Similar splicing mutations of the Menkes/mottled copper-tranporting ATPase gene in occipital horn syndrome and the blotchy mouse
-
Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., and Packman, S. (1995). Similar splicing mutations of the Menkes/mottled copper-tranporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet, 56, 570-576.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 570-576
-
-
Das, S.1
Levinson, B.2
Vulpe, C.3
Whitney, S.4
Gitschier, J.5
Packman, S.6
-
11
-
-
0005018796
-
Mo locus, Chr X
-
M. F. Lyon, S. Rastan and S. D. M. Brown, eds. (Oxford: Oxford University Press)
-
Doolittle, D. P., Davisson, M. T., Guidi, J. N., and Green, M. C. (1996). Mo locus, Chr X. In Genetic variants and strains of the laboratory mouse, M. F. Lyon, S. Rastan and S. D. M. Brown, eds. (Oxford: Oxford University Press), pp. 513-516.
-
(1996)
Genetic Variants and Strains of the Laboratory Mouse
, pp. 513-516
-
-
Doolittle, D.P.1
Davisson, M.T.2
Guidi, J.N.3
Green, M.C.4
-
12
-
-
0025124747
-
Biochemical study on the critical period for treatment of the mottled brindled mouse
-
Fujii, T., Ito, M., Tsuda, H., and Mikawa, H. (1990). Biochemical study on the critical period for treatment of the mottled brindled mouse. J. Neurol. 55, 885-889.
-
(1990)
J. Neurol.
, vol.55
, pp. 885-889
-
-
Fujii, T.1
Ito, M.2
Tsuda, H.3
Mikawa, H.4
-
13
-
-
0023696983
-
Variability in clinical expression of Menkes syndrome
-
Gerdes, A.-M., Tonnesen, T., Pergament, E., Sander, C., Baerlocher, K. E., Wartha, R., Guttler, F., and Horn, N. (1988). Variability in clinical expression of Menkes syndrome. Eur. J. Pediatr. 148, 132-135.
-
(1988)
Eur. J. Pediatr.
, vol.148
, pp. 132-135
-
-
Gerdes, A.-M.1
Tonnesen, T.2
Pergament, E.3
Sander, C.4
Baerlocher, K.E.5
Wartha, R.6
Guttler, F.7
Horn, N.8
-
15
-
-
0017195932
-
Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes disease
-
Horn, N. (1976). Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes disease. Lancet 1, 1156-1158.
-
(1976)
Lancet
, vol.1
, pp. 1156-1158
-
-
Horn, N.1
-
16
-
-
0028057784
-
The pathology and trace element status of the toxic milk mutant mouse
-
Howell, J. M., and Mercer, J, F. B. (1994). The pathology and trace element status of the toxic milk mutant mouse. J. Comp. Path. 110, 37-47.
-
(1994)
J. Comp. Path.
, vol.110
, pp. 37-47
-
-
Howell, J.M.1
Mercer, J.F.B.2
-
17
-
-
0028710036
-
Menkes disease
-
Kaler, S. G. (1994). Menkes Disease. Advances in Pediatr., 41, 262-303.
-
(1994)
Advances in Pediatr.
, vol.41
, pp. 262-303
-
-
Kaler, S.G.1
-
18
-
-
0030138462
-
Menkes disease mutations and response to early copper histidine treatment
-
Kaler, S. G. (1996). Menkes disease mutations and response to early copper histidine treatment. Nature Genet. 13, 21-22.
-
(1996)
Nature Genet.
, vol.13
, pp. 21-22
-
-
Kaler, S.G.1
-
19
-
-
0028017998
-
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., and Gahl, W. A. ( 1994). Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet. 5, 195-202.
-
(1994)
Nature Genet.
, vol.5
, pp. 195-202
-
-
Kaler, S.G.1
Gallo, L.K.2
Proud, V.K.3
Percy, A.K.4
Mark, Y.5
Segal, N.A.6
Goldstein, D.S.7
Holmes, C.S.8
Gahl, W.A.9
-
20
-
-
0029948054
-
A murine model of Menkes disease reveals a physiological function of metallothionein
-
Kelley, E. J., and Palmiter, R. D. (1996). A murine model of Menkes disease reveals a physiological function of metallothionein. Nature Genet, 13, 219-222.
-
(1996)
Nature Genet
, vol.13
, pp. 219-222
-
-
Kelley, E.J.1
Palmiter, R.D.2
-
21
-
-
0027236562
-
Recent developments in Menkes disease
-
Kodama, H. (1993). Recent developments in Menkes disease. J. Inher. Metab. Disease 16, 791-799.
-
(1993)
J. Inher. Metab. Disease
, vol.16
, pp. 791-799
-
-
Kodama, H.1
-
22
-
-
0020078101
-
Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder
-
Kuinaviemi, H., Peltonen, L., Palotie, A., Kaitila, I., and Kivirikko, K. I. (1982). Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J. Clin. Invest. 69, 730-733.
-
(1982)
J. Clin. Invest.
, vol.69
, pp. 730-733
-
-
Kuinaviemi, H.1
Peltonen, L.2
Palotie, A.3
Kaitila, I.4
Kivirikko, K.I.5
-
23
-
-
0030751819
-
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters
-
Kuo, Y.-M., Gitschier, J., and Packman, S. (1997). Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum. Mol. Genet. 6, 1043-1049.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1043-1049
-
-
Kuo, Y.-M.1
Gitschier, J.2
Packman, S.3
-
24
-
-
0030986872
-
Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse
-
Levinson, B., Packman, S., and Gitschier, J. (1997). Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse. Nature Genet. 16, 224-225.
-
(1997)
Nature Genet.
, vol.16
, pp. 224-225
-
-
Levinson, B.1
Packman, S.2
Gitschier, J.3
-
25
-
-
0028247206
-
The mottled gene is the mouse homologue of the Menkes disease gene
-
Levinson, B., Vulpe, C., Elder, B., Martin, C., Verley, F., Packman, S., and Gitschier, J. (1994). The mottled gene is the mouse homologue of the Menkes disease gene. Nature Genet. 6, 369-373.
-
(1994)
Nature Genet.
, vol.6
, pp. 369-373
-
-
Levinson, B.1
Vulpe, C.2
Elder, B.3
Martin, C.4
Verley, F.5
Packman, S.6
Gitschier, J.7
-
26
-
-
0018791601
-
Copper metabolism in mottled mouse mutants 2. Copper therapy of brindled (Mobr) mice
-
Mann, J. R., Camakaris, J., Danks, D. M., and Walliczek, F. G. (1979). Copper metabolism in mottled mouse mutants 2. Copper therapy of brindled (Mobr) mice. Biochem. J. 180, 605-612.
-
(1979)
Biochem. J.
, vol.180
, pp. 605-612
-
-
Mann, J.R.1
Camakaris, J.2
Danks, D.M.3
Walliczek, F.G.4
-
27
-
-
78651124591
-
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration
-
Menkes, J. H., Alter, M., Stegleder, G. K., Weakley, D. R., and Sung, J. H. (1962). A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29, 764-779.
-
(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
-
28
-
-
0028246694
-
Mutations in the murine homologue of the Menkes disease gene in dappled and blotchy mice
-
Mercer, J. F. B., Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J. A., Dierick, H., and Glover, T. W. (1994). Mutations in the murine homologue of the Menkes disease gene in dappled and blotchy mice. Nature Genet. 6, 374-378.
-
(1994)
Nature Genet.
, vol.6
, pp. 374-378
-
-
Mercer, J.F.B.1
Grimes, A.2
Ambrosini, L.3
Lockhart, P.4
Paynter, J.A.5
Dierick, H.6
Glover, T.W.7
-
29
-
-
0027475976
-
Isolation of a partial candidate gene for Menkes disease by positional cloning
-
Mercer, J. F. B., Livingston. J., Hall, B. K., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemenack, D., and Glover, T. W. (1993). Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20-25.
-
(1993)
Nature 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
Lockhart, P.7
Grimes, A.8
Bhave, M.9
Siemenack, D.10
Glover, T.W.11
-
30
-
-
0031153977
-
A serine to proline mutation in the copper-transporting ATPase gene of the macular mouse
-
Mori, M., and Nishimura, M. (1997). A serine to proline mutation in the copper-transporting ATPase gene of the macular mouse. Mamm. Genome 8, 407-410.
-
(1997)
Mamm. Genome
, vol.8
, pp. 407-410
-
-
Mori, M.1
Nishimura, M.2
-
31
-
-
0021021242
-
Alterations in copper and collagen metabolism in the Menkes syndrome and a new type of the Ehrlers-Danlos syndrome
-
Peltonen, L.. Kuivaniemi, H., Palotie, A., Horn, N., Kaitila, I., and Kivirikko, K. I. (1983). Alterations in copper and collagen metabolism in the Menkes syndrome and a new type of the Ehrlers-Danlos syndrome. Biochemistry 22, 6156-6163.
-
(1983)
Biochemistry
, vol.22
, pp. 6156-6163
-
-
Peltonen, L.1
Kuivaniemi, H.2
Palotie, A.3
Horn, N.4
Kaitila, I.5
Kivirikko, K.I.6
-
32
-
-
0029909937
-
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking
-
Petris, M. J., Mercer, J. F. B., Culvenor, J. G., Lockhart, P., Gleeson, P. A., and Camakaris, J. (1996). Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J. 15, 6084-6095.
-
(1996)
EMBO J.
, vol.15
, pp. 6084-6095
-
-
Petris, M.J.1
Mercer, J.F.B.2
Culvenor, J.G.3
Lockhart, P.4
Gleeson, P.A.5
Camakaris, J.6
-
33
-
-
0004809630
-
'Dappled', a new allele at the mottled locus in the house mouse
-
Phillips, R. J. S. (1961). 'Dappled', a new allele at the mottled locus in the house mouse. Genet. Res, 2, 209-295.
-
(1961)
Genet. Res
, vol.2
, pp. 209-295
-
-
Phillips, R.J.S.1
-
34
-
-
0019366779
-
A mild form of Menkes' syndrome
-
Procopis, P., Camakaris, J., and Danks, D. M. (1981). A mild form of Menkes' syndrome. J. Pediatr. 98, 97-100.
-
(1981)
J. Pediatr.
, vol.98
, pp. 97-100
-
-
Procopis, P.1
Camakaris, J.2
Danks, D.M.3
-
35
-
-
0020569082
-
Toxic milk, a new mutation affecting copper metabolism in the mouse
-
Rauch, H. (1983). Toxic milk, a new mutation affecting copper metabolism in the mouse. J. Hered. 74, 141-144.
-
(1983)
J. Hered.
, vol.74
, pp. 141-144
-
-
Rauch, H.1
-
36
-
-
0031048445
-
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease
-
Reed, V., and Boyd, Y. (1997). Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Human Mol. Genet, 6, 417-423.
-
(1997)
Human Mol. Genet
, vol.6
, pp. 417-423
-
-
Reed, V.1
Boyd, Y.2
-
37
-
-
0030199612
-
CPX-type ATPases: A class of P-type ATPases that pump heavy metals
-
Solioz, M., and Vulpe. C. (1996). CPX-type ATPases: a class of P-type ATPases that pump heavy metals. Trends in Biochem. Sci. 21, 237-241.
-
(1996)
Trends in Biochem. Sci.
, vol.21
, pp. 237-241
-
-
Solioz, M.1
Vulpe, C.2
-
38
-
-
0029799960
-
The toxic milk mouse is a murine model of Wilson disease
-
Theophilos, M., Cox, D. W., and Mercer, J. F. B. (1996). The toxic milk mouse is a murine model of Wilson disease. Hum. Mol. Genet. 5, 1619-1624.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1619-1624
-
-
Theophilos, M.1
Cox, D.W.2
Mercer, J.F.B.3
-
39
-
-
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., and Gitschier, J. (1993). Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7-13.
-
(1993)
Nature Genet.
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
-
40
-
-
0024043305
-
Atypical Menkes steely hair disease
-
Westman, J. A., Richardson, D. C., Rennert, O. M., and Morrow, G. (1988). Atypical Menkes steely hair disease. J. Med. Genet. 30, 853-858.
-
(1988)
J. Med. Genet.
, vol.30
, pp. 853-858
-
-
Westman, J.A.1
Richardson, D.C.2
Rennert, O.M.3
Morrow, G.4
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