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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 

Your search matched a total of 47 documents. Results 1 - 10.

Ovis aries
Gene: ... Disease relevance of ATP7B The Wilson disease protein( ATP7B) is a copper transporting P- type... of sheep ATP7B and its potential role in the copper- accumulation phenotype, cDNAs encoding the two forms of ovine ATP7B were transfected into immortalised fibroblast cell lines derived from a Menkes disease...
Rattus norvegicus
Gene: ... Disease relevance of Atp7b Long Evans cinnamon( LEC) rat is an animal model for human Wilson disease( WD) due to a deletion in Atp7b, the copper transporter defective in WD patients. High impact information on Atp7b We have cloned cDNAs for the rat gene( Atp7b) homologous to the human Wilson disease gene...
Homo sapiens
Gene: ... regulate the copper occupancy of WNDP. Other interactions of ATP7B On Western blot analysis all three...Disease relevance of ATP7B Mutations in ATP7B lead to Wilson' s disease, a severe disorder... and the murine ATP7B homologue, Atp7b, were separately transfected into an immortalized fibroblast cell line...
Mus musculus
Gene: ... Disease relevance of Atp7b Wilson disease is an autosomal recessive copper transport disorder... failure if not treated. The copper- transporting ATPases ATP7A and ATP7B play a central role in distribution of copper in the central nervous system; genetic mutations in ATP7A and ATP7B lead to severe...
MeSH term: ... a copper transporting P- type ATPase( ATP7B) which is defective in Wilson disease. We have cloned cDNAs for the rat gene( Atp7b) homologous to the human Wilson disease gene( ATP7B) and have used them to identify a partial deletion in the Atp7b gene in the LEC rat. The Wilson disease gene is a putative copper...
MeSH term: ... diagnosis for accurate genetic counseling in families with HSAS, MASA, or SPG1. Identification of all WD mutations will undoubtedly increase our understanding of the normal function of ATP7B as well as lead...
Homo sapiens
Gene: ... High impact information on ATP4B ATP4B lies in 13q34 and is separated from ATP7B by several loci whose mouse homologues map to mouse chromosome 14....
MeSH term: ... carries more water into the bile canaliculi than does taurocholate. At increased copper levels, ATP7B... microscope, specific reaction product was present in all hepatocytes of experimental sections as intense...

 

 
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