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 *

196 related articles for article (PubMed ID: 23064757)

  • 21. 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]  

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

  • 23. 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]  

  • 24. Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1).
    Gulec S; Collins JF
    J Nutr; 2014 Jan; 144(1):12-9. PubMed ID: 24174620
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
    Tang J; Donsante A; Desai V; Patronas N; Kaler SG
    Mol Genet Metab; 2008 Nov; 95(3):174-81. PubMed ID: 18752978
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
    Kennerson ML; Nicholson GA; Kaler SG; Kowalski B; Mercer JF; Tang J; Llanos RM; Chu S; Takata RI; Speck-Martins CE; Baets J; Almeida-Souza L; Fischer D; Timmerman V; Taylor PE; Scherer SS; Ferguson TA; Bird TD; De Jonghe P; Feely SM; Shy ME; Garbern JY
    Am J Hum Genet; 2010 Mar; 86(3):343-52. PubMed ID: 20170900
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
    Voskoboinik I; Camakaris J
    J Bioenerg Biomembr; 2002 Oct; 34(5):363-71. PubMed ID: 12539963
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Multiple Menkes copper ATPase (Atp7a) transcript and protein variants are induced by iron deficiency in rat duodenal enterocytes.
    Lu Y; Kim C; Collins JF
    J Trace Elem Med Biol; 2012 Jun; 26(2-3):109-14. PubMed ID: 22579041
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Correction of a mouse model of Menkes disease by the human Menkes gene.
    Llanos RM; Ke BX; Wright M; Deal Y; Monty F; Kramer DR; Mercer JF
    Biochim Biophys Acta; 2006 Apr; 1762(4):485-93. PubMed ID: 16488577
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.
    La Fontaine SL; Firth SD; Camakaris J; Englezou A; Theophilos MB; Petris MJ; Howie M; Lockhart PJ; Greenough M; Brooks H; Reddel RR; Mercer JF
    J Biol Chem; 1998 Nov; 273(47):31375-80. PubMed ID: 9813047
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Menkes Copper ATPase (Atp7a) is a novel metal-responsive gene in rat duodenum, and immunoreactive protein is present on brush-border and basolateral membrane domains.
    Ravia JJ; Stephen RM; Ghishan FK; Collins JF
    J Biol Chem; 2005 Oct; 280(43):36221-7. PubMed ID: 16081413
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
    Kim JH; Lee BH; Kim YM; Choi JH; Kim GH; Cheon CK; Yoo HW
    Metab Brain Dis; 2015 Feb; 30(1):75-81. PubMed ID: 24919650
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [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]  

  • 37. 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]  

  • 38. NMDA receptor activation mediates copper homeostasis in hippocampal neurons.
    Schlief ML; Craig AM; Gitlin JD
    J Neurosci; 2005 Jan; 25(1):239-46. PubMed ID: 15634787
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites.
    Nyasae L; Bustos R; Braiterman L; Eipper B; Hubbard A
    Am J Physiol Gastrointest Liver Physiol; 2007 Apr; 292(4):G1181-94. PubMed ID: 17158254
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Copper transporting P-type ATPases and human disease.
    Cox DW; Moore SD
    J Bioenerg Biomembr; 2002 Oct; 34(5):333-8. PubMed ID: 12539960
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.