221 related articles for article (PubMed ID: 25456742)
21. 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]
22. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Desai V; Donsante A; Swoboda KJ; Martensen M; Thompson J; Kaler SG
Clin Genet; 2011 Feb; 79(2):176-82. PubMed ID: 20497190
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.
Kaler SG; Holmes CS
Adv Pharmacol; 2013; 68():223-33. PubMed ID: 24054147
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. [Mice with mottled mutation--a model for defective copper metabolism in humans].
Lenartowicz M
Postepy Hig Med Dosw; 1998; 52(5):527-41. PubMed ID: 9857676
[TBL] [Abstract][Full Text] [Related]
27. [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]
28. 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]
29. A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.
Mori M; Nishimura M
Mamm Genome; 1997 Jun; 8(6):407-10. PubMed ID: 9166584
[TBL] [Abstract][Full Text] [Related]
30. X-linked recessive Menkes disease: identification of partial gene deletions in affected males.
Poulsen L; Horn N; Heilstrup H; Lund C; Tümer Z; Møller LB
Clin Genet; 2002 Dec; 62(6):449-57. PubMed ID: 12485192
[TBL] [Abstract][Full Text] [Related]
31. Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.
Wang Y; Zhu S; Weisman GA; Gitlin JD; Petris MJ
PLoS One; 2012; 7(8):e43039. PubMed ID: 22900086
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.
Park HD; Moon HK; Lee J; Lee M; Lee SY; Kim JW; Ki CS
Ann Clin Lab Sci; 2009; 39(2):188-91. PubMed ID: 19429807
[TBL] [Abstract][Full Text] [Related]
34. X-linked Menkes disease: first documented report of germ-line mosaicism.
Poulsen L; Møller LB; Plunkett K; Belmont J; Tümer Z; Horn N
Genet Test; 2004; 8(3):286-91. PubMed ID: 15727253
[TBL] [Abstract][Full Text] [Related]
35. Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.
Kuo YM; Gitschier J; Packman S
Hum Mol Genet; 1997 Jul; 6(7):1043-9. PubMed ID: 9215673
[TBL] [Abstract][Full Text] [Related]
36. A Menkes P-type ATPase involved in copper homeostasis in the central nervous system of the rat.
Qian Y; Tiffany-Castiglioni E; Harris ED
Brain Res Mol Brain Res; 1997 Aug; 48(1):60-6. PubMed ID: 9379850
[TBL] [Abstract][Full Text] [Related]
37. Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.
Masson W; Hughes H; Papworth D; Boyd Y; Horn N
J Med Genet; 1997 Sep; 34(9):729-32. PubMed ID: 9321757
[TBL] [Abstract][Full Text] [Related]
38. 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
[TBL] [Abstract][Full Text] [Related]
39. Menkes disease.
Bertini I; Rosato A
Cell Mol Life Sci; 2008 Jan; 65(1):89-91. PubMed ID: 17989919
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]