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Results: 1 to 20 of 134

Similar articles for PubMed (Select 20799318)

1.

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

Donsante A, Johnson P, Jansen LA, Kaler SG.

Am J Med Genet A. 2010 Oct;152A(10):2529-34. doi: 10.1002/ajmg.a.33632.

2.

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. doi: 10.1039/c1mt00134e. Epub 2011 Nov 16.

PMID:
22089129
3.

ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.

Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG.

Mol Ther. 2011 Dec;19(12):2114-23. doi: 10.1038/mt.2011.143. Epub 2011 Aug 30.

4.

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 Fall;8(3):286-91.

PMID:
15727253
5.

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 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18.

6.

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 19;12:150. doi: 10.1186/1471-2431-12-150.

7.

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. Epub 2007 May 11. Erratum in: J Med Genet. 2008 Jan;45(1):64.

8.

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. doi: 10.1016/j.ymgme.2008.06.015. Epub 2008 Aug 26.

9.

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Møller LB.

Am J Hum Genet. 2006 Aug;79(2):214-29. Epub 2006 Jun 5.

10.

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.

PMID:
11936860
11.

Functional copper transport explains neurologic sparing in occipital horn syndrome.

Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG.

Genet Med. 2006 Nov;8(11):711-8.

PMID:
17108763
12.

Menkes disease.

Bertini I, Rosato A.

Cell Mol Life Sci. 2008 Jan;65(1):89-91. Review.

PMID:
17989919
13.

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 Jan-Feb;11(1-2):41-7. doi: 10.1016/j.gep.2010.09.001. Epub 2010 Sep 8.

PMID:
20831904
15.

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Dagenais SL, Adam AN, Innis JW, Glover TW.

Am J Hum Genet. 2001 Aug;69(2):420-7. Epub 2001 Jun 26.

16.

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.

Am J Med Genet. 2001 Mar 15;99(3):217-22.

PMID:
11241493
17.

Neonatal diagnosis and treatment of Menkes disease.

Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N.

N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.

18.

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 Spring;39(2):188-91.

PMID:
19429807
19.

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC.

J Inherit Metab Dis. 2010 Oct;33(5):583-9. doi: 10.1007/s10545-010-9118-2. Epub 2010 Jul 21.

20.

Menkes disease and infantile epilepsy.

Prasad AN, Levin S, Rupar CA, Prasad C.

Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Review.

PMID:
21924848
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