BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 11241493)

  • 1. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
    Gu YH; Kodama H; Murata Y; Mochizuki D; Yanagawa Y; Ushijima H; Shiba T; Lee CC
    Am J Med Genet; 2001 Mar; 99(3):217-22. PubMed ID: 11241493
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
    Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N
    Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
    Dagenais SL; Adam AN; Innis JW; Glover TW
    Am J Hum Genet; 2001 Aug; 69(2):420-7. PubMed ID: 11431706
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
    Kaler SG; Gallo LK; Proud VK; Percy AK; Mark Y; Segal NA; Goldstein DS; Holmes CS; Gahl WA
    Nat Genet; 1994 Oct; 8(2):195-202. PubMed ID: 7842019
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
    Qi M; Byers PH
    Hum Mol Genet; 1998 Mar; 7(3):465-9. PubMed ID: 9467005
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Small amounts of functional ATP7A protein permit mild phenotype.
    Møller LB
    J Trace Elem Med Biol; 2015; 31():173-7. PubMed ID: 25172213
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
    Møller LB; Tümer Z; Lund C; Petersen C; Cole T; Hanusch R; Seidel J; Jensen LR; Horn N
    Am J Hum Genet; 2000 Apr; 66(4):1211-20. PubMed ID: 10739752
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of point mutations in 41 unrelated patients affected with Menkes disease.
    Tümer Z; Lund C; Tolshave J; Vural B; Tønnesen T; Horn N
    Am J Hum Genet; 1997 Jan; 60(1):63-71. PubMed ID: 8981948
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
    Yasmeen S; Lund K; De Paepe A; De Bie S; Heiberg A; Silva J; Martins M; Skjørringe T; Møller LB
    Eur J Hum Genet; 2014 Apr; 22(4):517-21. PubMed ID: 24002164
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
    Tümer Z
    Hum Mutat; 2013 Mar; 34(3):417-29. PubMed ID: 23281160
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Twenty-five novel mutations including duplications in the ATP7A gene.
    Moizard MP; Ronce N; Blesson S; Bieth E; Burglen L; Mignot C; Mortemousque I; Marmin N; Dessay B; Danesino C; Feillet F; Castelnau P; Toutain A; Moraine C; Raynaud M
    Clin Genet; 2011 Mar; 79(3):243-53. PubMed ID: 21208200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
    Borm B; Møller LB; Hausser I; Emeis M; Baerlocher K; Horn N; Rossi R
    J Pediatr; 2004 Jul; 145(1):119-21. PubMed ID: 15238919
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.
    La Fontaine S; Firth SD; Lockhart PJ; Brooks H; Camakaris J; Mercer JF
    Hum Mol Genet; 1999 Jun; 8(6):1069-75. PubMed ID: 10332039
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
    Ogawa A; Yamamoto S; Kanazawa M; Ogawa E; Takayanagi M; Hasegawa S; Kohno Y
    J Hum Genet; 2000; 45(5):315-7. PubMed ID: 11043517
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
    Mogensen M; Skjørringe T; Kodama H; Silver K; Horn N; Møller LB
    Orphanet J Rare Dis; 2011 Nov; 6():73. PubMed ID: 22074552
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
    Paulsen M; Lund C; Akram Z; Winther JR; Horn N; Møller LB
    Am J Hum Genet; 2006 Aug; 79(2):214-29. PubMed ID: 16826513
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
    Donsante A; Tang J; Godwin SC; Holmes CS; Goldstein DS; Bassuk A; Kaler SG
    J Med Genet; 2007 Aug; 44(8):492-7. PubMed ID: 17496194
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Menkes' disease and brain dysfunction].
    Aoki T; Yamaguchi Y; Omura I; Watanabe A; Shimizu N
    No To Shinkei; 2001 May; 53(5):427-35. PubMed ID: 11424353
    [No Abstract]   [Full Text] [Related]  

  • 19. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
    Cecchi C; Biasotto M; Tosi M; Avner P
    Hum Mol Genet; 1997 Mar; 6(3):425-33. PubMed ID: 9147646
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Translational research investigations on ATP7A: an important human copper ATPase.
    Kaler SG
    Ann N Y Acad Sci; 2014 May; 1314():64-8. PubMed ID: 24735419
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.