|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
MGD |
Toxic milk, a new mutation affecting cooper metabolism in the mouse.
|
6863890 |
1983 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Complications of use of the neodymium: yttrium-aluminum-garnet laser in neurosurgery.
|
2409472 |
1985 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
MGD |
Morphologic and chemical studies on a murine mutation (toxic milk mice) resulting in hepatic copper toxicosis.
|
2845190 |
1988 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Recombinant subunit vaccines from yeast.
|
2679931 |
1989 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Furthermore, studies of serum copper and ceruloplasmin levels in unaffected relatives suggest that phenotypic variability in WD may be due in part to an interaction of the WND locus with other genetic or non-genetic modifiers such as age.
|
2382969 |
1990 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
|
8298641 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
|
8298641 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
|
8298639 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
|
8298639 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
|
8298641 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
|
8298640 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease-specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
|
8298641 |
1993 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
RGD |
The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.
|
8037756 |
1994 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
MGD |
The pathology and trace element status of the toxic milk mutant mouse.
|
8040371 |
1994 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Strial dysfunction in a melanocyte deficient mutant rat (Ws/Ws rat).
|
8203200 |
1994 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, however, two human diseases that disrupt copper transport, Menkes disease and Wilson disease, were found to be caused by mutations in two closely related genes, MNK and WND, which encode proteins belonging to the P-type ATPase family of cation transporters.
|
8091505 |
1994 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
7951327 |
1994 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
|
8533760 |
1995 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The structure is very similar to that of the closely related Wilson disease gene (WND; ATP7B).
|
7490081 |
1995 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel RNA splicing mutation in Japanese patients with Wilson disease.
|
8526905 |
1995 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Wilson disease in Iceland: a clinical and genetic study.
|
7726170 |
1995 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease.
|
7626145 |
1995 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease.
|
7626145 |
1995 |