Zobrazeno 1 - 10
of 73
pro vyhledávání: '"H, SCHEINBERG"'
Autor:
Jin Xu, Svetlana Lutsenko, Barbara Ross, Scott Zeitlin, Kamna Das, C. Mekios, O. I. Buiakova, I. H. Scheinberg, T. C. Gilliam, S. Das
Publikováno v:
Human Molecular Genetics. 8:1665-1671
The Atp7b protein is a copper-transporting ATPase expressed predominantly in the liver and to a lesser extent in most other tissues. Mutations in the ATP7B gene lead to Wilson disease, a copper toxicity disorder characterized by dramatic build-up of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51832244fc705e9fb53b6341a4f1280
https://doi.org/10.1093/hmg/8.9.1665
https://doi.org/10.1093/hmg/8.9.1665
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
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
https://doi.org/10.1086/514864
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
https://doi.org/10.1093/ajcn/63.5.842
Autor:
I H, Scheinberg
Publikováno v:
Proceedings of the Royal Society of Medicine. 70(Suppl 3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a820df96088022607a47c11fc3cc5fb1
https://pubmed.ncbi.nlm.nih.gov/20919326
https://pubmed.ncbi.nlm.nih.gov/20919326
Publikováno v:
Journal of the American Chemical Society. 69(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5ad52fc3faa60918c5ef5161a379b33b
https://pubmed.ncbi.nlm.nih.gov/20270821
https://pubmed.ncbi.nlm.nih.gov/20270821
Autor:
H O, MICHEL, I H, SCHEINBERG
Publikováno v:
The Journal of biological chemistry. 169(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8bbe65759b0c28825abeb34468f75367
https://pubmed.ncbi.nlm.nih.gov/20251445
https://pubmed.ncbi.nlm.nih.gov/20251445
Publikováno v:
Bulletin of the New York Academy of Medicine. 52(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fbc9340c90f2ef1c3413feae29054845
https://pubmed.ncbi.nlm.nih.gov/19312955
https://pubmed.ncbi.nlm.nih.gov/19312955
Publikováno v:
Acta Neurologica Scandinavica. 81:556-557
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::059e21d1f5763cba473fc9684e92d270
https://doi.org/10.1111/j.1600-0404.1990.tb01020.x
https://doi.org/10.1111/j.1600-0404.1990.tb01020.x
Autor:
E A, Stewart, A, White, J, Tomfohrde, S, Osborne-Lawrence, L, Prestridge, B, Bonne-Tamir, I H, Scheinberg, P, St George-Hyslop, M, Giagheddu, J W, Kim
Publikováno v:
American journal of human genetics. 53(4)
Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the WD locus (WND) at 13q14.3, as well as sequence-tag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5ec7e60bc9ab787838574ff71b4e4b3
https://pubmed.ncbi.nlm.nih.gov/8213814
https://pubmed.ncbi.nlm.nih.gov/8213814
Publikováno v:
Gastroenterology. 100(3)
Twenty of 320 patients with Wilson's disease initially presented with chemical and laboratory features of chronic active hepatitis, confirmed histologically in 17. When first seen, cirrhosis was present in all 20 and was complicated by ascites and/or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2d2e3bfb69717d26c12227e5902349f
https://pubmed.ncbi.nlm.nih.gov/1993498
https://pubmed.ncbi.nlm.nih.gov/1993498