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1.

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. doi: 10.1016/j.ymgme.2014.10.001. Epub 2014 Oct 13.

PMID:
25456742
2.

Menkes disease in affected females: the clinical disease spectrum.

Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U.

Am J Med Genet A. 2015 Feb;167A(2):417-20. doi: 10.1002/ajmg.a.36853. Epub 2014 Nov 26.

3.

Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.

Kaler SG.

J Trace Elem Med Biol. 2014 Oct;28(4):427-30. doi: 10.1016/j.jtemb.2014.08.008. Epub 2014 Aug 28.

PMID:
25281031
4.

A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system.

Schlecht U, Suresh S, Xu W, Aparicio AM, Chu A, Proctor MJ, Davis RW, Scharfe C, St Onge RP.

BMC Genomics. 2014 Apr 5;15:263. doi: 10.1186/1471-2164-15-263.

5.

A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

Wada T, Haddad MR, Yi L, Murakami T, Sasaki A, Shimbo H, Kodama H, Osaka H, Kaler SG.

Pediatr Neurol. 2014 Apr;50(4):417-20. doi: 10.1016/j.pediatrneurol.2014.01.005. Epub 2014 Jan 5.

6.

Congenital abnormalities in Japanese patients with Menkes disease.

Gu YH, Kodama H, Kato T.

Brain Dev. 2012 Oct;34(9):746-9. doi: 10.1016/j.braindev.2012.01.012. Epub 2012 Feb 22.

PMID:
22361452
7.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.

Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Erratum in: Am J Hum Genet. 2012 Feb 10;90(2):378.

8.

Increased frequency of congenital heart defects in Menkes disease.

Hicks JD, Donsante A, Pierson TM, Gillespie MJ, Chou DE, Kaler SG.

Clin Dysmorphol. 2012 Apr;21(2):59-63. doi: 10.1097/MCD.0b013e32834ea52b.

9.

Diagnosis of copper transport disorders.

Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, Kaler SG.

Curr Protoc Hum Genet. 2011 Jul;Chapter 17:Unit17.9. doi: 10.1002/0471142905.hg1709s70.

10.

Influence of copper on early development: prenatal and postnatal considerations.

Uriu-Adams JY, Scherr RE, Lanoue L, Keen CL.

Biofactors. 2010 Mar-Apr;36(2):136-52. doi: 10.1002/biof.85. Review.

PMID:
20232410
11.

Perinatal copper deficiency alters rat cerebellar purkinje cell size and distribution.

Lyons JA, Prohaska JR.

Cerebellum. 2010 Mar;9(1):136-44. doi: 10.1007/s12311-009-0136-2.

PMID:
19838760
12.

Role of copper transporters in copper homeostasis.

Prohaska JR.

Am J Clin Nutr. 2008 Sep;88(3):826S-9S.

13.

Assembling the pieces.

Thiele DJ, Gitlin JD.

Nat Chem Biol. 2008 Mar;4(3):145-7. doi: 10.1038/nchembio0308-145.

14.

ATP7B expression in human breast epithelial cells is mediated by lactational hormones.

Michalczyk A, Bastow E, Greenough M, Camakaris J, Freestone D, Taylor P, Linder M, Mercer J, Ackland ML.

J Histochem Cytochem. 2008 Apr;56(4):389-99. doi: 10.1369/jhc.7A7300.2008. Epub 2008 Jan 7.

15.

Copper and iron disorders of the brain.

Madsen E, Gitlin JD.

Annu Rev Neurosci. 2007;30:317-37. Review.

PMID:
17367269
16.

Safety of intracerebroventricular copper histidine in adult rats.

Lem KE, Brinster LR, Tjurmina O, Lizak M, Lal S, Centeno JA, Liu PC, Godwin SC, Kaler SG.

Mol Genet Metab. 2007 May;91(1):30-6. Epub 2007 Mar 1.

17.

Atp7a determines a hierarchy of copper metabolism essential for notochord development.

Mendelsohn BA, Yin C, Johnson SL, Wilm TP, Solnica-Krezel L, Gitlin JD.

Cell Metab. 2006 Aug;4(2):155-62.

18.
19.

Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.

Liu PC, McAndrew PE, Kaler SG.

Genet Test. 2002 Winter;6(4):255-60.

PMID:
12537648
20.

Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase.

Steveson TC, Ciccotosto GD, Ma XM, Mueller GP, Mains RE, Eipper BA.

Endocrinology. 2003 Jan;144(1):188-200.

PMID:
12488345
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