| Title |
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients
|
|---|---|
| Published in |
Journal of Molecular Medicine, June 2004
|
| DOI | 10.1007/s00109-004-0557-9 |
| Pubmed ID | |
| Authors |
Bettina Stuehler, Juergen Reichert, Wolfgang Stremmel, Mark Schaefer |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 3% |
| Uruguay | 1 | 3% |
| Unknown | 29 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 26% |
| Other | 5 | 16% |
| Student > Master | 4 | 13% |
| Student > Bachelor | 2 | 6% |
| Professor | 2 | 6% |
| Other | 7 | 23% |
| Unknown | 3 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 32% |
| Agricultural and Biological Sciences | 7 | 23% |
| Veterinary Science and Veterinary Medicine | 4 | 13% |
| Biochemistry, Genetics and Molecular Biology | 3 | 10% |
| Neuroscience | 2 | 6% |
| Other | 0 | 0% |
| Unknown | 5 | 16% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 July 2018.
All research outputs
#7,454,298
of 22,789,076 outputs
Outputs from Journal of Molecular Medicine
#504
of 1,551 outputs
Outputs of similar age
#18,681
of 54,116 outputs
Outputs of similar age from Journal of Molecular Medicine
#4
of 11 outputs
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