We are analyzing https://link.springer.com/article/10.1007/s00109-004-0557-9.

Title:
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients | Journal of Molecular Medicine
Description:
Wilson disease is a human disorder of copper metabolism resulting in toxic copper accumulation. Patients present with a high clinical variability, even when sharing identical mutations. MURR1, the gene causing canine copper toxicosis in Bedlington terriers, maps to chromosome 2 in humans, a region different to the Wilson gene locus. MURR1 might influence human copper metabolism and the clinical presentation of Wilson disease patients. This study analyzed MURR1 gene sequence in Wilson disease patients and MURR1 gene transcription in selected patients. Mutation analysis of three exons of the MURR1 gene including the intron-exon boundaries was performed in 63 Wilson disease patients by direct sequencing. Of the 63 Wilson patients 19 (30%) had basepair changes in the MURR1 gene. Three intronic base pair changes, one new sequence variation and two known polymorphisms were detected, including the GAT/GAC heterozygous state at codon Asn 164 in 15 (24%) of the analyzed patients. This suggests that GAT/GAC heterozygous state at codon Asn 164 is associated with an earlier onset of disease.
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Keywords {🔍}

disease, wilson, gene, google, scholar, copper, pubmed, article, cas, toxicosis, murr, patients, wilsons, canine, genetic, genet, van, analysis, bedlington, terriers, access, privacy, cookies, content, journal, human, schaefer, region, liver, data, publish, search, stremmel, clinical, mutation, sternlieb, hepatol, nat, sluis, mol, including, information, log, research, molecular, stuehler, reichert, mark, metabolism, mutations,

Topics {✒️}

month download article/chapter wolfgang stremmel & mark schaefer gat/gac heterozygous state copper transporting atpase canine copper toxicosis mutation analysis molecular medicine aims inherited copper toxicosis van de sluis copper metabolism gene murr1 gene transcription full article pdf copper toxicosis locus privacy choices/manage cookies murr1 gene including atp7b gene related subjects wd gene analysis arms-pcr copper metabolism resulting toxic copper accumulation copper-dependent trafficking neomorphic imprinted gene wilson disease gene mark schaefer wilson gene locus van oost ba menkes disease gene european economic area intron-exon boundaries intronic base pair uofa-medical-genetics hepatocyte-specific localization band-stowe cm chronic progressive hepatitis mouse u2af1-rs1 check access instant access conditions privacy policy copper toxicosis wilson disease protein purebred dog population murr1 gene sharing identical mutations compound heterozygote mutations high clinical variability wilson disease patients article stuehler accepting optional cookies collecting clinical data

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         headline:Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients
         description:Wilson disease is a human disorder of copper metabolism resulting in toxic copper accumulation. Patients present with a high clinical variability, even when sharing identical mutations. MURR1, the gene causing canine copper toxicosis in Bedlington terriers, maps to chromosome 2 in humans, a region different to the Wilson gene locus. MURR1 might influence human copper metabolism and the clinical presentation of Wilson disease patients. This study analyzed MURR1 gene sequence in Wilson disease patients and MURR1 gene transcription in selected patients. Mutation analysis of three exons of the MURR1 gene including the intron-exon boundaries was performed in 63 Wilson disease patients by direct sequencing. Of the 63 Wilson patients 19 (30%) had basepair changes in the MURR1 gene. Three intronic base pair changes, one new sequence variation and two known polymorphisms were detected, including the GAT/GAC heterozygous state at codon Asn 164 in 15 (24%) of the analyzed patients. This suggests that GAT/GAC heterozygous state at codon Asn 164 is associated with an earlier onset of disease.
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            Wilson disease
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            Canine copper toxicosis
            Mutation analysis
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            Human Genetics
            Internal Medicine
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      headline:Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients
      description:Wilson disease is a human disorder of copper metabolism resulting in toxic copper accumulation. Patients present with a high clinical variability, even when sharing identical mutations. MURR1, the gene causing canine copper toxicosis in Bedlington terriers, maps to chromosome 2 in humans, a region different to the Wilson gene locus. MURR1 might influence human copper metabolism and the clinical presentation of Wilson disease patients. This study analyzed MURR1 gene sequence in Wilson disease patients and MURR1 gene transcription in selected patients. Mutation analysis of three exons of the MURR1 gene including the intron-exon boundaries was performed in 63 Wilson disease patients by direct sequencing. Of the 63 Wilson patients 19 (30%) had basepair changes in the MURR1 gene. Three intronic base pair changes, one new sequence variation and two known polymorphisms were detected, including the GAT/GAC heterozygous state at codon Asn 164 in 15 (24%) of the analyzed patients. This suggests that GAT/GAC heterozygous state at codon Asn 164 is associated with an earlier onset of disease.
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