|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rare allelic variants in ESD and INO80 increased and decreased chances for the neurological phenotype, respectively, while rare variants in APOE and MBD6 decreased the chances of WD early manifestation.
|
30230192 |
2019 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In Chinese there is a tight linkage between WD and two gene loci for esterase D and retinoblastoma in the long arm of chromosome 13.
|
8410043 |
1993 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Wilson disease locus has been mapped to 13q and is closely linked to the esterase D and retinoblastoma genes.
|
8432554 |
1993 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed the segregation of esterase D (ESD) and retinoblastoma (RB) gene loci in ten families of Chinese WD subjects living in Taiwan.
|
1679032 |
1991 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage of the WD locus (WND) to ESD at 13q14 was first shown by studies in families of Middle Eastern origin using the isozymic polymorphism of esterase D. Using RFLPs detected by the ESD cDNA we could not confirm this reported close linkage in an analysis of 17 WD families of northwest European origin.
|
2227943 |
1990 |
|
Hepatolenticular Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia.
|
2563776 |
1989 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding human esterase D (EsD), a member of the nonspecific esterase family, is a useful genetic marker for retinoblastoma (RB) and Wilson's disease.
|
3164702 |
1988 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The WD locus (WND) has previously been linked to esterase D (ESD) and localized to 13q14-22.
|
3189332 |
1988 |
|
Hepatolenticular Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have used esterase D and several polymorphic markers on 13q to investigate linkage in WD pedigrees from the United States and Canada.
|
3163469 |
1988 |
|
Hepatolenticular Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds.
|
3474893 |
1987 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The availability of this clone should allow for the cloning of the RB gene by chromosome walking; the diagnosis of genetic defects such as retinoblastomas and Wilson disease, whose genes are closely linked to the esterase D gene; and the exploration of the large family of human esterase genes.
|
3462698 |
1986 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our group recently reported close linkage between the locus for WD and a polymorphic red cell enzyme, esterase D (EsD), in a large inbred Israeli-Arab lineage.
|
3459695 |
1986 |
|
Hepatolenticular Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus.
|
3856863 |
1985 |