Zobrazeno 1 - 10 of 378 pro vyhledávání: '"I Sternlieb"'
1
Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses
Autor: G K Penchaszadeh, F H Urrutia, Lorenzo Pavone, Göran Annerén, H T Zhang, Konstantin Petrukhin, Svetlana Lutsenko, I A Ivanova-Smolenskaya, K Das, A.B. Shah, Igor P. Chernov, T C Gilliam, I Sternlieb, K Westermark, Oleg V. Evgrafov, B M Ross, I. H. Scheinberg, Enrico Parano
Publikováno v: American journal of human genetics 61 (1997): 317–328.
info:cnr-pdr/source/autori:Shah, Anjali B.; Chernov, Igor P.; Zhang, HongTao; Ross, Barbara M.; Das, Kamna; Lutsenko, Svetlana V.; Parano, Enrico; Pavone, Lorenzo; Evgrafov, Oleg Vadimovich; Ivanova-Smolenskaya, Irina A.; Annerén, Göran A.; Westermark, Kerstin M.; Urrutia, Francisco Hevia; Penchaszadeh, Graciela K.; STERNLIEB, Irmin; SCHEINBERG, I. Herbert; Gilliam, Thomas Conrad; Petrukhin, Konstantin E./titolo:Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses/doi:/rivista:American journal of human genetics/anno:1997/pagina_da:317/pagina_a:328/intervallo_pagine:317–328/volume:61
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver and subsequently in the brain and other organs. On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2296f088a4c82eebe39fd5459072ee73
https://doi.org/10.1086/514864
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2
Wilson disease and idiopathic copper toxicosis
Autor: I H Scheinberg, I Sternlieb
Publikováno v: The American Journal of Clinical Nutrition. 63:842S-845S
The pathogenic agent of both Wilson disease (WD) and non-Indian childhood cirrhosis (which we term idiopathic copper toxicosis, or ICT) is copper accumulating to excess in the liver. Inheritance of a pair of alleles of an autosomal recessive gene on
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e5bad0b8af30044f74224fca240290
https://doi.org/10.1093/ajcn/63.5.842
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4
Copper metallothionein in patients with hepatic copper overload
Autor: P. E. Hunziker, I. Sternlieb
Publikováno v: European Journal of Clinical Investigation. 21:466-471
We studied the Cu-MT present in the hepatic cytosol obtained from 7 patients suffering from conditions associated with hepatic Cu overload (Wilson's disease, biliary atresia, familial cholestatic cirrhosis). Since chromatographic methods appropriate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d58be989f2b04f0df4882bef49c75403
https://doi.org/10.1111/j.1365-2362.1991.tb01396.x
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5
Spontaneous cholangiofibrosis in Long-Evans Cinnamon rats: a rodent model for Wilson's disease
Autor: M L, Schilsky, N, Quintana, I, Volenberg, V, Kabishcher, I, Sternlieb
Publikováno v: Laboratory animal science. 48(2)
The Long-Evans Cinnamon (LEC) rat is a rodent model of Wilson's disease characterized by ceruloplasmin deficiency, hepatic copper accumulation, and hepatocellular injury. So far, the LEC rat appears to be the only strain in which cholangiofibrosis de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0fa07c8e603f04b9a18fc3cd26199cec
https://pubmed.ncbi.nlm.nih.gov/10090006
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7
Is non-Indian childhood cirrhosis caused by excess dietary copper?
Autor: I.H Scheinberg, I Sternlieb
Publikováno v: Lancet (London, England). 344(8928)
Indian childhood cirrhosis is generally believed to be caused by toxic excesses of hepatic copper derived from milk boiled in copper vessels. Sporadic cases of a disorder indistinguishable from Indian childhood cirrhosis have appeared in other countr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9591aa007089a1bae42cbf1ba87dc9c5
https://pubmed.ncbi.nlm.nih.gov/7968155
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8
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
Autor: R.E. Tanzi, K. Petrukhin, I. Chernov, J.L. Pellequer, W. Wasco, B. Ross, D.M. Romano, E. Parano, L. Pavone, L.M. Brzustowicz, M. Devoto, J. Peppercorn, A.I. Bush, I. Sternlieb, M. Pirastu, J.F. Gusella, O. Evgrafov, G.K. Penchaszadeh, B. Honig, I.S. Edelman, M.B. Soares, I.H. Scheinberg, T.C. Gilliam
Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 1993, 5 (4), pp.344-350. ⟨10.1038/ng1293-344⟩
Nature genetics
5 (1993): 344–350. doi:10.1038/ng1293-344
info:cnr-pdr/source/autori:Tanzi R.E.; Petrukhin K.; Chernov I.; Pellequer J.L.; Wasco W.; Ross B.; Romano D.M.; Parano E.; Pavone L.; Brzustowicz L.M.; Devoto M.; Peppercorn J.; Bush A.I.; Sternlieb I.; Pirastu M.; Gusella J.F.; Evgrafov O.; Penchaszadeh G.K.; Gilliam T.C./titolo:The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene/doi:10.1038%2Fng1293-344/rivista:Nature genetics (Print)/anno:1993/pagina_da:344/pagina_a:350/intervallo_pagine:344–350/volume:5
Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium and haplotype analysis confir
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403bdaac8bcabdd4c3c152ef6c89b86d
http://hdl.handle.net/11573/497083
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10
Light- and electron-microscopical study of a case of gold salt-induced hepatotoxicity
Autor: G M, Fleischner, R, Morecki, T, Hanaichi, H, Hayashi, N, Quintana, I, Sternlieb
Publikováno v: Hepatology (Baltimore, Md.). 14(3)
A 56-yr-old woman with long-standing rheumatoid arthritis exhibited jaundice, pruritus and abdominal discomfort after 8 yr of periodic gold sodium thiomalate injections amounting to a cumulative dose in excess of 2.5 gm. Histopathological examination
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0ef09556dd048cfdcd2ff485388a5339
https://pubmed.ncbi.nlm.nih.gov/1908434
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