BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

342 related articles for article (PubMed ID: 25583185)

  • 1. Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
    Zlatic S; Comstra HS; Gokhale A; Petris MJ; Faundez V
    Neurobiol Dis; 2015 Sep; 81():154-61. PubMed ID: 25583185
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autonomous requirements of the Menkes disease protein in the nervous system.
    Hodgkinson VL; Zhu S; Wang Y; Ladomersky E; Nickelson K; Weisman GA; Lee J; Gitlin JD; Petris MJ
    Am J Physiol Cell Physiol; 2015 Nov; 309(10):C660-8. PubMed ID: 26269458
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
    Aldenhoven M; Klomp LW; van Hasselt PM; de Koning TJ; Visser G
    Ned Tijdschr Geneeskd; 2007 Oct; 151(41):2266-70. PubMed ID: 17987894
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [From gene to disease: copper-transporting P ATPases alteration].
    Garcia Hejl C; Vrignaud C; Garcia C; Ceppa F
    Pathol Biol (Paris); 2009 May; 57(3):272-9. PubMed ID: 19046832
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.
    Lenartowicz M; Grzmil P; Shoukier M; Starzyński R; Marciniak M; Lipiński P
    Metallomics; 2012 Feb; 4(2):197-204. PubMed ID: 22089129
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Menkes disease.
    Tümer Z; Møller LB
    Eur J Hum Genet; 2010 May; 18(5):511-8. PubMed ID: 19888294
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
    de Bie P; Muller P; Wijmenga C; Klomp LW
    J Med Genet; 2007 Nov; 44(11):673-88. PubMed ID: 17717039
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Menkes disease and infantile epilepsy.
    Prasad AN; Levin S; Rupar CA; Prasad C
    Brain Dev; 2011 Nov; 33(10):866-76. PubMed ID: 21924848
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neonatal erythroderma as a first manifestation of Menkes disease.
    Galve J; Vicente A; González-Enseñat MA; Pérez-Dueñas B; Cusí V; Møller LB; Julià M; Domínguez A; Ferrando J
    Pediatrics; 2012 Jul; 130(1):e239-42. PubMed ID: 22711717
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
    Lin YJ; Ho CS; Hsu CH; Lin JL; Chuang CK; Tsai JD; Chiu NC; Lin HY; Lin SP
    Pediatr Neonatol; 2017 Feb; 58(1):89-92. PubMed ID: 25771438
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
    Tümer Z; Birk Møller L; Horn N
    Hum Mutat; 2003 Dec; 22(6):457-64. PubMed ID: 14635105
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Menkes disease in affected females: the clinical disease spectrum.
    Smpokou P; Samanta M; Berry GT; Hecht L; Engle EC; Lichter-Konecki U
    Am J Med Genet A; 2015 Feb; 167A(2):417-20. PubMed ID: 25428120
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.
    Kim BE; Petris MJ
    J Med Genet; 2007 Oct; 44(10):641-6. PubMed ID: 17483305
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7a mo-ms) - An animal model for Menkes disease.
    Lenartowicz M; Starzyński R; Wieczerzak K; Krzeptowski W; Lipiński P; Styrna J
    Gene Expr Patterns; 2011; 11(1-2):41-7. PubMed ID: 20831904
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Menkes disease.
    Bertini I; Rosato A
    Cell Mol Life Sci; 2008 Jan; 65(1):89-91. PubMed ID: 17989919
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
    León-García G; Santana A; Villegas-Sepúlveda N; Pérez-González C; Henrríquez-Esquíroz JM; de León-García C; Wong C; Baeza I
    BMC Pediatr; 2012 Sep; 12():150. PubMed ID: 22992316
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
    Fieten H; Gill Y; Martin AJ; Concilli M; Dirksen K; van Steenbeek FG; Spee B; van den Ingh TS; Martens EC; Festa P; Chesi G; van de Sluis B; Houwen RH; Watson AL; Aulchenko YS; Hodgkinson VL; Zhu S; Petris MJ; Polishchuk RS; Leegwater PA; Rothuizen J
    Dis Model Mech; 2016 Jan; 9(1):25-38. PubMed ID: 26747866
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
    Møller LB; Rea G; Yasmeen S; Skjørringe T; Thorborg SS; Morrison PJ; Donnelly DE
    Mol Genet Metab; 2013 Dec; 110(4):490-2. PubMed ID: 24100245
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease.
    Zhang LP; Lü JL; Wang XH; Zou LP
    Chin Med J (Engl); 2008 Jan; 121(2):175-7. PubMed ID: 18272047
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 18.