178 related articles for article (PubMed ID: 11386751)
1. Intragenic deletions at Atp7a in mouse models for Menkes disease.
Cunliffe P; Reed V; Boyd Y
Genomics; 2001 Jun; 74(2):155-62. PubMed ID: 11386751
[TBL] [Abstract][Full Text] [Related]
2. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.
Reed V; Boyd Y
Hum Mol Genet; 1997 Mar; 6(3):417-23. PubMed ID: 9147645
[TBL] [Abstract][Full Text] [Related]
3. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
Cecchi C; Biasotto M; Tosi M; Avner P
Hum Mol Genet; 1997 Mar; 6(3):425-33. PubMed ID: 9147646
[TBL] [Abstract][Full Text] [Related]
4. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.
Levinson B; Packman S; Gitschier J
Nat Genet; 1997 Jul; 16(3):224-5. PubMed ID: 9207785
[No Abstract] [Full Text] [Related]
5. 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]
6. 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; 42(4):436-42. PubMed ID: 9380433
[TBL] [Abstract][Full Text] [Related]
7. Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene.
Cecchi C; Avner P
Genomics; 1996 Oct; 37(1):96-104. PubMed ID: 8921375
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. The mottled gene is the mouse homologue of the Menkes disease gene.
Levinson B; Vulpe C; Elder B; Martin C; Verley F; Packman S; Gitschier J
Nat Genet; 1994 Apr; 6(4):369-73. PubMed ID: 8054976
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
Møller LB; Tümer Z; Lund C; Petersen C; Cole T; Hanusch R; Seidel J; Jensen LR; Horn N
Am J Hum Genet; 2000 Apr; 66(4):1211-20. PubMed ID: 10739752
[TBL] [Abstract][Full Text] [Related]
14. Mutation spectrum of ATP7A, the gene defective in Menkes disease.
Tümer Z; Møller LB; Horn N
Adv Exp Med Biol; 1999; 448():83-95. PubMed ID: 10079817
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
Haddad MR; Patel KD; Sullivan PH; Goldstein DS; Murphy KM; Centeno JA; Kaler SG
Mol Genet Metab; 2014 Dec; 113(4):294-300. PubMed ID: 25456742
[TBL] [Abstract][Full Text] [Related]
17. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
Ogawa A; Yamamoto S; Kanazawa M; Ogawa E; Takayanagi M; Hasegawa S; Kohno Y
J Hum Genet; 2000; 45(5):315-7. PubMed ID: 11043517
[TBL] [Abstract][Full Text] [Related]
18. 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; 87(2):191-9. PubMed ID: 16338116
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Menkes syndrome and animal models.
Mercer JF
Am J Clin Nutr; 1998 May; 67(5 Suppl):1022S-1028S. PubMed ID: 9587146
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
