| 1 | ATP7A, MNK
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| Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
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| Tang J, Donsante A, Desai V, Patronas N, Kaler SG.
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| Mol Genet Metab 95(3):174-81. Epub 2008 Aug 26.
2008
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| 2 | ATP7A, MNK
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| Purification and membrane reconstitution of catalytically active Menkes copper-transporting P-type ATPase (MNK; ATP7A).
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| Hung YH, Layton MJ, Voskoboinik I, Mercer JF, Camakaris J.
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| Biochem J 401(2):569-79. 2007
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| 3 | ATP7A, MNK
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| Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
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| Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG.
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| J Med Genet 44(8):492-7. Epub 2007 May 11. 2007
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| 4 | ATP7A, MNK
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| Atp7a determines a hierarchy of copper metabolism essential for notochord development.
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| Mendelsohn BA, Yin C, Johnson SL, Wilm TP, Solnica-Krezel L, Gitlin JD.
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| Cell Metab 4(2):155-62. 2006
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| 5 | ATP7A, MNK, ATP7B, WND
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| The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum.
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| Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S.
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| J Biol Chem 280(10):9640-5. Epub 2005 Jan 5. 2005
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| 6 | MNK, ATP7A, ATP7B, WND
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| A comparison of the mutation spectra of Menkes disease and Wilson disease.
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| Hsi G, Cox DW.
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| Hum Genet 114(2):165-72. Epub 2003 Oct 25. 2004
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| 7 | ATP7A, MNK, OHS
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| Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
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| Moller LB, Tumer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.
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| Am J Hum Genet 66(4):1211-20. 2000
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| 8 | ATP7A, MNK
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| Defective copper-induced trafficking and localization of the menkes protein in patients with mild and copper-treated classical menkes disease.
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| Ambrosini L, et al.
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| Hum Mol Genet 8(8):1547-55. 1999
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| 9 | ATP7A, MNK
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| The menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.
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| Petris MJ, et al.
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| Hum Mol Genet 8(11):2107-15 1999
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| 10 | MNK
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| Clinical expression of Menkes disease in a girl with X;13 translocation.
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| Abusaad I, Mohammed SN, Ogilvie CM, Ritchie J, Pohl KR, Docherty Z.
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| Am J Med Genet 87(4):354-9 1999
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| 11 | ATP7A, MNK
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| A Golgi localization signal identified in the Menkes recombinant protein.
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| Francis MJ, et al.
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| Hum Mol Genet 7 : 1245-1252. 1998
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| 12 | ATP7A, MNK
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| Identification of point mutations in 41 unrelated patients affected with Menkes disease.
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| Tźmer Z, et al.
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| Am J Hum Genet 60 : 63-71. 1997
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| 13 | ATP7A, MNK
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| Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.
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| Dierick HA, et al.
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| Hum Mol Genet 6 : 409-416. 1997
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| 14 | ATP7A, MNK
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| A murine model of Menkes disease reveals a physiological function of metallothionein.
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| Kelly EJ, et al.
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| Nat Genet 13 : 219-222. 1996
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| 15 | ATP7A, MNK
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| 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.
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| Petris MJ, et al.
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| EMBO J 15 : 6084-6095. 1996
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| 16 | MNK, ATP7A
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| Gene amplification of the Menkes (MNK ; ATP7A) P-type ATPase gene of CHOcells is associated with copper resistance and enhanced copper efflux.
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| Camakaris J, et al.
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| Hum Mol Genet 4 : 2117-2123. 1995
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| 17 | OHS, MNK, ATP7A
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| Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital Horn syndrome and the blotchy mouse.
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| Das S, et al.
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| Am J Hum Genet 56 : 570-576. 1995
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| 18 | MNK, ATP7A
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| Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
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| Tźmer Z, et al.
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| Genomics 26 : 437-442. 1995
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| 19 | ATP7A, MNK
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| Molecular structure of the Menkes disease gene (ATP7A).
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| Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JF.
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| Genomics 28(3):462-9. 1995
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| 20 | ATP7A, MNK, OHS
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| Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
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| Kaler SG, et al.
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| Nat Genet 8 : 195-202. 1994
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| 21 | MNK
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| X;1 translocation in a female Menkes patient : characterization by fluorescence in situ hybridization.
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| Beck J, et al.
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| Clin Genet 46 : 295-298. 1994
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| 22 | ATP7A, MNK
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| Diverse mutations in patients with menkes disease often lead to exon skipping.
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| Das S, et al.
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| Am J Hum Genet 55 : 883-889. 1994
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| 23 | MNK
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| Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
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| Vulpe C, et al.
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| Nat Genet 3 : 7-13. 1993
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| 24 | MNK
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| Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
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| Chelly J, et al.
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| Nat Genet 3 : 14-19. 1993
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| 25 | MNK
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| Isolation of a partial candidate gene for Menkes disease by positional cloning.
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| Mercer JFB, et al.
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| Nat Genet 3 : 20-25. 1993
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| 26 | MNK
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| Are X-linked cutis laxa and Menkes disease allelic?
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| Levinson B, et al.
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| Nat Genet 3 : 6. 1993
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| 27 | MNK
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| Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.
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| Tźmer Z, et al.
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| Hum Genet 88 : 668-672. 1992
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| 28 | MNK
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| Multipoint linkage analysis in Menkes disease.
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| Tšnnesen T, et al.
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| Am J Hum Genet 50 : 1012-1017. 1992
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| 29 | MNK
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| Isolation and characterization of radiation-reduced hybrids containing portions of the proximal long arm of the human X chromosome : identification of hybrids containing the Menkes' disease locus.
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| Colman SD, et al.
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| Somat Cell Mol Genet 18 : 201-213. 1992
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| 30 | MNK
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| Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
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| Tźmer Z, et al.
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| Hum Mol Genet 1 : 483-489. 1992
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| 31 | MNK
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| Cloning of a candidate gene for Menkes syndrome near the MNK translocation breakpoint.
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| Consalez GG, et al.
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| Am J Hum Genet 51 : A20. 1992
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| 32 | MNK
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| Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient.
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| Consalez GG, et al.
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| Genomics 14 : 557-561. 1992
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| 33 | MNK
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| Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.
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| Verga V, et al.
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| Am J Hum Genet 48 : 1133-1138. 1991
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| 34 | MNK
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| Menkes disease. Multipoint linkage analysis.
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| Tšnnesen T, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2086. 1991
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| 35 | MNK
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| Menkes syndrome in a girl with X-autosome translocation.
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| Kapur S, et al.
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| Am J Med Genet 26 : 503-510. 1987
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| 36 | MNK
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| Linkage studies in Menkes' disease. The Xg blood group system andC-banding of the X chromosome.
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| Horn N, et al.
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| Ann Hum Genet 48 : 161-172. 1984
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