메뉴 건너뛰기




Volumn 34, Issue 9, 1997, Pages 729-732

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease

Author keywords

ATP7A; Copper; Menkes disease; Mottled

Indexed keywords

COPPER;

EID: 0030954683     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.729     Document Type: Article
Times cited : (12)

References (23)
  • 1
    • 0028964642 scopus 로고
    • Menkes disease
    • Bankier A. Menkes disease. J Med Genet 1995;32:213-15.
    • (1995) J Med Genet , vol.32 , pp. 213-215
    • Bankier, A.1
  • 2
    • 0026928949 scopus 로고
    • Menkes disease: An X-linked neurological disorder of the copper metabolism
    • Horn N, Tønnesen T, Tümer Z. Menkes disease: an X-linked neurological disorder of the copper metabolism. Brain Pathol 1992;2:351-62.
    • (1992) Brain Pathol , vol.2 , pp. 351-362
    • Horn, N.1    Tønnesen, T.2    Tümer, Z.3
  • 3
    • 0015384074 scopus 로고
    • Menkes kinky hair syndrome: An inherited defect of copper absorption with widespread effects
    • Danks DM, Campbell P, Stevens BJ, Howell RR. Menkes kinky hair syndrome: an inherited defect of copper absorption with widespread effects. Pediatrics 1962;50:188-201.
    • (1962) Pediatrics , vol.50 , pp. 188-201
    • Danks, D.M.1    Campbell, P.2    Stevens, B.J.3    Howell, R.R.4
  • 4
    • 0027500142 scopus 로고
    • Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
    • Chelly J, Tümer Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993;3:14-19.
    • (1993) Nat Genet , vol.3 , pp. 14-19
    • Chelly, J.1    Tümer, Z.2    Tonnesen, T.3
  • 5
    • 0027475976 scopus 로고
    • Isolation of a partial candidate gene for Menkes disease by positional cloning
    • Mercer JF, Livingston J, Hall B, 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.1    Livingston, J.2    Hall, B.3
  • 6
    • 0027446365 scopus 로고
    • 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
  • 7
    • 0028017998 scopus 로고
    • Occipital horn syndrome and mild Menkes phenotype associated with splice site mutations at the MNK locus
    • Kaler SG, Gallo LK, Proud VK, et al. Occipital horn syndrome and mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet 1994;8:195-202.
    • (1994) Nat Genet , vol.8 , pp. 195-202
    • Kaler, S.G.1    Gallo, L.K.2    Proud, V.K.3
  • 9
    • 0029062630 scopus 로고
    • Characterization of the exon structure of the Menkes disease gene using vectorette PCR
    • Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco AP, Horn N. Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics 1995;26:437-42.
    • (1995) Genomics , vol.26 , pp. 437-442
    • Tümer, Z.1    Vural, B.2    Tønnesen, T.3    Chelly, J.4    Monaco, A.P.5    Horn, N.6
  • 10
    • 0031025976 scopus 로고    scopus 로고
    • Identification of point mutations in 41 unrelated patients affected with Menkes disease
    • Tümer Z, Lund C, Tolshave J, Burçak V, Tønnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet 1997;60:63-71.
    • (1997) Am J Hum Genet , vol.60 , pp. 63-71
    • Tümer, Z.1    Lund, C.2    Tolshave, J.3    Burçak, V.4    Tønnesen, T.5    Horn, N.6
  • 11
    • 0028957864 scopus 로고
    • Similar splicing mutations of the Menkes/mottled copper transporting ATPase gene in occipital horn syndrome and the blotchy mouse
    • Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 1995;56:570-6.
    • (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
  • 12
    • 0031048445 scopus 로고    scopus 로고
    • Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes disease
    • Reed V, Boyd Y. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes disease. Hum Mol Genet 1997;6:417-23.
    • (1997) Hum Mol Genet , vol.6 , pp. 417-423
    • Reed, V.1    Boyd, Y.2
  • 13
    • 0031052386 scopus 로고    scopus 로고
    • The mottled mouse is a model for human Menkes disease: Identification of mutations in the Atp7a gene
    • Cecchi C, Biasotto M, Tosi M, Avner P. The mottled mouse is a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum Mol Genet 1997;6:425-33.
    • (1997) Hum Mol Genet , vol.6 , pp. 425-433
    • Cecchi, C.1    Biasotto, M.2    Tosi, M.3    Avner, P.4
  • 15
    • 0028086041 scopus 로고
    • Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled mice
    • George AM, Reed V, Glenister P, et al. Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled mice. Genomics 1994;22:27-35.
    • (1994) Genomics , vol.22 , pp. 27-35
    • George, A.M.1    Reed, V.2    Glenister, P.3
  • 16
    • 0028064992 scopus 로고
    • Mutations in mottled dappled are RFLVs
    • Reed V, Boyd Y. Mutations in mottled dappled are RFLVs. Nat Genet 1994;8:11-12.
    • (1994) Nat Genet , vol.8 , pp. 11-12
    • Reed, V.1    Boyd, Y.2
  • 17
    • 0028247206 scopus 로고
    • The mottled gene is the mouse homologue of the Menkes disease gene
    • Levinson B, Vulpe C, Elder B, et al. The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet 1994;6:369-73.
    • (1994) Nat Genet , vol.6 , pp. 369-373
    • Levinson, B.1    Vulpe, C.2    Elder, B.3
  • 18
    • 0028246694 scopus 로고
    • Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
    • Mercer JFB, Grimes A, Ambrosini L, et al. Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nat Genet 1994;6:374-8.
    • (1994) Nat Genet , vol.6 , pp. 374-378
    • Mercer, J.F.B.1    Grimes, A.2    Ambrosini, L.3
  • 19
    • 0024318319 scopus 로고
    • Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism
    • Tonnesen T, Horn N. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inherit Metab Dis 1989;12(suppl 1):207-14.
    • (1989) J Inherit Metab Dis , vol.12 , Issue.1 SUPPL. , pp. 207-214
    • Tonnesen, T.1    Horn, N.2
  • 20
    • 0019452844 scopus 로고
    • 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 1989;1:107-20.
    • (1989) Prenat Diagn , vol.1 , pp. 107-120
    • Horn, N.1
  • 21
    • 0018829832 scopus 로고
    • Menkes X linked disease: Heterozygous phenotype in uncloned fibroblast cultures
    • Horn N. Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. J Med Genet 1980;17:257-61.
    • (1980) J Med Genet , vol.17 , pp. 257-261
    • Horn, N.1
  • 22
    • 0018897718 scopus 로고
    • Menkes X linked disease: Two clonal cell populations in heterozygotes
    • Horn N, Moody P, McGuire VM. Menkes X linked disease: two clonal cell populations in heterozygotes. J Med Genet 1980;17:262-6.
    • (1980) J Med Genet , vol.17 , pp. 262-266
    • Horn, N.1    Moody, P.2    McGuire, V.M.3
  • 23
    • 0021054101 scopus 로고
    • Menkes X-linked disease: Prenatal diagnosis and carrier detection
    • Horn, N. Menkes X-linked disease: prenatal diagnosis and carrier detection. J Inherit Metab Dis 1983;6(suppl 1):59-62.
    • (1983) J Inherit Metab Dis , vol.6 , Issue.1 SUPPL. , pp. 59-62
    • Horn, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.