We are analyzing https://link.springer.com/article/10.1007/s00109-005-0036-y.

Title:
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease | Journal of Molecular Medicine
Description:
Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron–exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3′+119T→A in the 3′ untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C→G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population.
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article, disease, google, scholar, wilson, gene, pubmed, cas, copper, murr, mutation, toxicosis, analysis, patients, genet, chinese, mutations, correlation, hum, van, canine, atpb, privacy, cookies, content, journal, wang, human, population, access, china, publish, search, zhiying, chen, lin, bedlington, clinical, cox, mol, fujian, fuzhou, university, data, information, log, research, molecular, zhao, wanjin,

Topics {✒️}

month download article/chapter van de sluis min-ting lin nucleotide change ivs2+63c→ copper transporting atpase cirrhosis caused canine copper toxicosis zhi-ying wu murr1 gene including human murr1 gene full article pdf copper metabolism gene privacy choices/manage cookies copper toxicosis locus genetics wilson disease gene molecular medicine aims hepatic copper overload menkes disease gene van amstel jkp van oost ba fujian provincial science wilson disease revealed wilson disease protein article wu human nucleated cells ning wang european economic area common disorder resulting related subjects israeli ethnic groups predicting amino acid wan-jin chen disease-causing mutations fujian medical university conditions privacy policy genetic mapping genetic engineering wilson disease patients murr1 gene gui-xian zhao article journal accepting optional cookies copper toxicosis intron–exon boundaries splice site sequence affect protein function journal finder publish purebred dog population murong sx

Schema {🗺️}

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         headline:Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease
         description:Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron–exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3′+119T→A in the 3′ untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C→G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population.
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         dateModified:2006-01-28T00:00:00Z
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            Mutation analysis
            Correlation Chinese
            Molecular Medicine
            Human Genetics
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      headline:Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease
      description:Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron–exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3′+119T→A in the 3′ untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C→G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population.
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          MURR1
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