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101 related items for PubMed ID: 15159688
1. Impaired somatostatin accumulation within the median eminence in mice with mosaic mutation. Wojewodzka U, Gajewska A, Gajkowska B, Styrna J, Kochman K. Neuro Endocrinol Lett; 2004; 25(1-2):78-82. PubMed ID: 15159688 [Abstract] [Full Text] [Related]
2. 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 [Abstract] [Full Text] [Related]
3. 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 [Abstract] [Full Text] [Related]
4. 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 [Abstract] [Full Text] [Related]
5. Alternative splicing in the Atp7a gene in the Cu deficient mosaic mutation in mice. Lenartowicz M, Grzmil P, Rusin M, Styrna J. Folia Biol (Krakow); 2004 Apr; 52(3-4):219-23. PubMed ID: 19058563 [Abstract] [Full Text] [Related]
6. Small amounts of functional ATP7A protein permit mild phenotype. Møller LB. J Trace Elem Med Biol; 2015 Apr; 31():173-7. PubMed ID: 25172213 [Abstract] [Full Text] [Related]
8. 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 [Abstract] [Full Text] [Related]
10. [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 13; 151(41):2266-70. PubMed ID: 17987894 [Abstract] [Full Text] [Related]
11. 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 13; 145(1):119-21. PubMed ID: 15238919 [Abstract] [Full Text] [Related]
12. Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease. Lenartowicz M, Starzyński RR, Krzeptowski W, Grzmil P, Bednarz A, Ogórek M, Pierzchała O, Staroń R, Gajowiak A, Lipiński P. PLoS One; 2014 Jul 13; 9(9):e107641. PubMed ID: 25247420 [Abstract] [Full Text] [Related]
13. [Mice with mottled mutation--a model for defective copper metabolism in humans]. Lenartowicz M. Postepy Hig Med Dosw; 1998 Jul 13; 52(5):527-41. PubMed ID: 9857676 [Abstract] [Full Text] [Related]
14. Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. Mototani Y, Miyoshi I, Okamura T, Moriya T, Meng Y, Yuan Pei X, Kameo S, Kasai N. Genomics; 2006 Feb 13; 87(2):191-9. PubMed ID: 16338116 [Abstract] [Full Text] [Related]
16. A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease. Kouza M, Gowtham S, Seel M, Hansmann UH. Phys Chem Chem Phys; 2010 Oct 07; 12(37):11390-7. PubMed ID: 20714486 [Abstract] [Full Text] [Related]
17. Effects of copper supplementation on the structure and content of elements in kidneys of mosaic mutant mice. Lenartowicz M, Windak R, Tylko G, Kowal M, Styrna J. Biol Trace Elem Res; 2010 Aug 07; 136(2):204-20. PubMed ID: 19830392 [Abstract] [Full Text] [Related]
18. 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 Aug 07; 47 Online Pub():OL141-8. PubMed ID: 11936860 [Abstract] [Full Text] [Related]
19. 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 07; 22(6):457-64. PubMed ID: 14635105 [Abstract] [Full Text] [Related]
20. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Murata Y, Kodama H, Abe T, Ishida N, Nishimura M, Levinson B, Gitschier J, Packman S. Pediatr Res; 1997 Oct 07; 42(4):436-42. PubMed ID: 9380433 [Abstract] [Full Text] [Related] Page: [Next] [New Search]