Literature DB >> 7367859

Genetic expression of Wilson's disease in cell culture: a diagnostic marker.

W Y Chan, W Cushing, M A Coffman, O M Rennert.   

Abstract

Wilson's disease fibroblasts have an elevated intracellular copper concentration as compared to cultured control cells. A decreased ratio of copper to protein was observed in cytoplasmic protein (or proteins) having a molecular weight greater than or equal to 30,000 in Wilson's disease cells. The results of this culture study indicate its potential importance in the early unequivocal diagnosis of this disorder.

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Year:  1980        PMID： 7367859     DOI： 10.1126/science.7367859

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  7 in total

1.  Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilson's disease.

Authors:  H C Liu; W Y Chan; O M Rennert
Journal:  Histochem J       Date:  1982-09

2.  Wilson's disease.

Authors:  D Parkes
Journal:  Br Med J (Clin Res Ed)       Date:  1984-04-21

3.  Transfer of copper from metallothionein to nonmetallothionein proteins in cultured cells.

Authors:  J Seagrave; J L Hanners; W Taylor; H A O'Brien
Journal:  Biol Trace Elem Res       Date:  1986-09       Impact factor: 3.738

4.  Copper transportion of WD protein in hepatocytes from Wilson disease patients in vitro.

Authors:  G Q Hou; X L Liang; R Chen; L W Tang; Y Wang; P Y Xu; Y R Zhang; C H Ou
Journal:  World J Gastroenterol       Date:  2001-12       Impact factor: 5.742

5.  Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

Authors:  M Frydman; B Bonné-Tamir; L A Farrer; P M Conneally; A Magazanik; S Ashbel; Z Goldwitch
Journal:  Proc Natl Acad Sci U S A       Date:  1985-03       Impact factor: 11.205

Review 6.  Mutations in humans and animals which affect copper metabolism.

Authors:  J Camakaris; M Phillips; D M Danks; R Brown; T Stevenson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

7.  DPM-1001 decreased copper levels and ameliorated deficits in a mouse model of Wilson's disease.

Authors:  Navasona Krishnan; Christy Felice; Keith Rivera; Darryl J Pappin; Nicholas K Tonks
Journal:  Genes Dev       Date:  2018-06-26       Impact factor: 12.890
  7 in total

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