These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 10463276)

  • 1. Metabolic and molecular bases of Menkes disease and occipital horn syndrome.
    Kaler SG
    Pediatr Dev Pathol; 1998; 1(1):85-98. PubMed ID: 10463276
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction.
    Kemppainen R; Hämäläinen ER; Kuivaniemi H; Tromp G; Pihlajaniemi T; Kivirikko KI
    Arch Biochem Biophys; 1996 Apr; 328(1):101-6. PubMed ID: 8638917
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. ATP7A-related copper transport diseases-emerging concepts and future trends.
    Kaler SG
    Nat Rev Neurol; 2011 Jan; 7(1):15-29. PubMed ID: 21221114
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inborn errors of copper metabolism.
    Kaler SG
    Handb Clin Neurol; 2013; 113():1745-54. PubMed ID: 23622398
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
    Proud VK; Mussell HG; Kaler SG; Young DW; Percy AK
    Am J Med Genet; 1996 Oct; 65(1):44-51. PubMed ID: 8914740
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetics and pathophysiology of Menkes disease.
    Kodama H; Murata Y
    Pediatr Int; 1999 Aug; 41(4):430-5. PubMed ID: 10453200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical manifestations and treatment of Menkes disease and its variants.
    Kodama H; Murata Y; Kobayashi M
    Pediatr Int; 1999 Aug; 41(4):423-9. PubMed ID: 10453199
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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
    Am J Hum Genet; 1995 Mar; 56(3):570-6. PubMed ID: 7887410
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Abnormalities in copper metabolism and disturbances in the synthesis of collagen and elastin.
    Kivirikko KI; Peltonen L
    Med Biol; 1982 Apr; 60(2):45-8. PubMed ID: 6124662
    [No Abstract]   [Full Text] [Related]  

  • 20. Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.
    Peltonen L; Kuivaniemi H; Palotie A; Horn N; Kaitila I; Kivirikko KI
    Biochemistry; 1983 Dec; 22(26):6156-63. PubMed ID: 6140952
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.