| http://purl.uniprot.org/citations/18688737 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18688737 | http://www.w3.org/2000/01/rdf-schema#comment | "Copper-transporting ATPase 1 and 2 (ATP7A and ATP7B) are two highly homologous P-type copper ATPase exporters. Mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. Mutations in ATP7B can cause Wilson disease which is an autosomal recessive disorder of copper toxicity. In this study, we attempt to build a quantitative relationship between mutated ATPase and Menkes/Wilson disease. First, we use the amino-acid distribution probability as a measure to quantify the difference in ATPase before and after mutation. Second, we use the cross-impact analysis to define the quantitative relationship between mutant ATPase protein and Menkes/Wilson disease, and compute various probabilities. Finally, we use the Bayesian equation to determine the probability that Menkes/Wilson disease is diagnosed under a mutation. The results show (i) the vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, and (ii) the probability that a mutation causes Menkes/Wilson disease is about nine tenth. Thus we provide a way to use the descriptively probabilistic method to couple the mutation with its clinical outcome after quantifying mutations in proteins."xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.org/dc/terms/identifier | "doi:10.1007/s11030-008-9084-x"xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/author | "Wu G."xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/author | "Yan S."xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/name | "Mol Divers"xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/pages | "119-129"xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/title | "Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases."xsd:string |
| http://purl.uniprot.org/citations/18688737 | http://purl.uniprot.org/core/volume | "12"xsd:string |
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