|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
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 |
The Wilson disease locus has been mapped to 13q and is closely linked to the esterase D and retinoblastoma genes.
|
8432554 |
1993 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance.
|
3653883 |
1987 |
|
Retinoblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Although a constitutional chromosomal deletion including 13q14 has been found to date in all retinoblastoma patients whose esterase D activity is 50 percent of normal, one female patient has been found who has 50 percent esterase D activity in all normal cells examined but no deletion of 13q14 at the 550-band level.
|
6336308 |
1983 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The breakpoint in this patient therefore must have occurred between the ESD gene and the retinoblastoma (Rb) predisposition locus.
|
3198126 |
1988 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of three families with hereditary retinoblastoma demonstrates close linkage of the gene for this tumor with the genetic locus for esterase D. These results assign the gene for the hereditary form of retinoblastoma to band q14 on chromosome 13, the same region which is affected in the chromosome deletion form of this eye tumor, and therefore suggest a common underlying mechanism in the pathogenesis of these two forms of retinoblastoma.
|
6823558 |
1983 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
With rhabdomyosarcoma metaphases, cDNA clones of the retinoblastoma susceptibility gene (RB1) and the esterase D gene (ESD), as well as the arbitrary genomic fragment 7D2 (D13S10), showed specific hybridization to the normal chromosome 13 and the der(2) marker, but not to the der(13).
|
2630183 |
1989 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
ESD in conjunction with RB polymorphism would be useful in prenatal and presymptomatic diagnosis, as well as in carrier detection in informative pedigrees.
|
1679032 |
1991 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparison with published esterase D analyses in families with retinoblastoma permits the assignment of the esterase D locus to that same sub-band, 13q14 .11.
|
6716423 |
1984 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
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 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Studies utilizing multiple polymorphic markers, (ESD isoenzymes, restriction fragment length polymorphisms and karyotypic heteromorphisms) have shown that a somatic change from heterozygosity in constitutional cells to homozygosity in RB tumors occurs frequently for chromosome 13q but not for other chromosomes.
|
6462624 |
1984 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The esterase D (ESD) gene maps at a similar location as the RB gene locus and therefore serves as a potential marker for the prognosis of retinoblastoma.
|
19126594 |
2009 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
A gene encoding a messenger RNA (mRNA) of 4.6 kilobases (kb), located in the proximity of esterase D, was identified as the retinoblastoma susceptibility (RB) gene on the basis of chromosomal location, homozygous deletion, and tumor-specific alterations in expression.
|
3823889 |
1987 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an apparently normal karyotype.
|
3813643 |
1987 |