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Items: 1 to 20 of 34

1.

Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.

Chandhok G, Horvath J, Aggarwal A, Bhatt M, Zibert A, Schmidt HH.

World J Gastroenterol. 2016 Apr 28;22(16):4109-19. doi: 10.3748/wjg.v22.i16.4109.

2.

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. doi: 10.1242/dmm.020263.

3.

Wilson's disease: A review of what we have learned.

Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC.

World J Hepatol. 2015 Dec 18;7(29):2859-70. doi: 10.4254/wjh.v7.i29.2859.

4.

Wilson's disease and other neurological copper disorders.

Bandmann O, Weiss KH, Kaler SG.

Lancet Neurol. 2015 Jan;14(1):103-13. doi: 10.1016/S1474-4422(14)70190-5. Review.

5.

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

Usta J, Wehbeh A, Rida K, El-Rifai O, Estiphan TA, Majarian T, Barada K.

PLoS One. 2014 Nov 12;9(11):e109727. doi: 10.1371/journal.pone.0109727. eCollection 2014.

6.

Genetic variants in diseases of the extrapyramidal system.

Oczkowska A, Kozubski W, Lianeri M, Dorszewska J.

Curr Genomics. 2014 Feb;15(1):18-27. doi: 10.2174/1389202914666131210213327.

7.

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.

Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21.

8.

Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.

Usta J, Abu Daya H, Halawi H, Al-Shareef I, El-Rifai O, Malli AH, Sharara AI, Habib RH, Barada K.

JIMD Rep. 2012;4:129-37. doi: 10.1007/8904_2011_91. Epub 2011 Nov 8.

9.

Dietary copper triggers onset of fulminant hepatitis in the Long-Evans cinnamon rat model.

Siaj R, Sauer V, Stöppeler S, Spiegel HU, Köhler G, Zibert A, Schmidt HH.

World J Gastroenterol. 2012 Oct 21;18(39):5542-50. doi: 10.3748/wjg.v18.i39.5542.

10.

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.

Zali N, Mohebbi SR, Esteghamat S, Chiani M, Haghighi MM, Hosseini-Asl SM, Derakhshan F, Mohammad-Alizadeh AH, Malek-Hosseini SA, Zali MR.

Hepat Mon. 2011 Nov;11(11):890-4. doi: 10.5812/kowsar.1735143X.762. Epub 2011 Nov 30.

11.

A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.

Al-Tobi M, Kashoob M, Joshi S, Bayoumi R.

Sultan Qaboos Univ Med J. 2011 Aug;11(3):357-62. Epub 2011 Aug 15.

12.

Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.

Bucossi S, Mariani S, Ventriglia M, Polimanti R, Gennarelli M, Bonvicini C, Pasqualetti P, Scrascia F, Migliore S, Vernieri F, Rossini PM, Squitti R.

Int J Alzheimers Dis. 2011;2011:973692. doi: 10.4061/2011/973692. Epub 2011 Jun 15.

13.

Clinical presentation and mutations in Danish patients with Wilson disease.

Møller LB, Horn N, Jeppesen TD, Vissing J, Wibrand F, Jennum P, Ott P.

Eur J Hum Genet. 2011 Sep;19(9):935-41. doi: 10.1038/ejhg.2011.80. Epub 2011 May 25.

14.

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

Li XH, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, Zhou F, De-Min Y, Han Y, Zhang DH, Gong QM, Lu ZM, Kong XF, Wang JS, Zhang XX.

BMC Med Genet. 2011 Jan 11;12:6. doi: 10.1186/1471-2350-12-6.

15.

Fine motor skills disorders in the course of Wilson's disease.

Günther PA, Kühn HJ, Villmann T, Hermann W.

Ann Indian Acad Neurol. 2009 Jan;12(1):28-34. doi: 10.4103/0972-2327.48849.

16.

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

Merle U, Weiss KH, Eisenbach C, Tuma S, Ferenci P, Stremmel W.

BMC Gastroenterol. 2010 Jan 18;10:8. doi: 10.1186/1471-230X-10-8.

17.

The iron-sulfur clusters of dehydratases are primary intracellular targets of copper toxicity.

Macomber L, Imlay JA.

Proc Natl Acad Sci U S A. 2009 May 19;106(20):8344-9. doi: 10.1073/pnas.0812808106. Epub 2009 May 4.

18.

High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.

Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L.

World J Gastroenterol. 2008 Oct 14;14(38):5876-9.

19.

Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.

Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Finny P, Thomas N, Chandy M, Kurian G, Chandy GM.

World J Gastroenterol. 2008 Aug 7;14(29):4672-6.

20.

Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.

Ye S, Gong L, Shui QX, Zhou LF.

World J Gastroenterol. 2007 Oct 14;13(38):5147-50.

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