|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Furthermore, esterase D and retinoblastoma, tightly linked in the mouse and human genomes, are not found to be closely linked in the canine genome.
|
8432554 |
1993 |
|
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 |
However, it was recognition of both the deletion of band q14 of chromosome 13 in mentally retarded children with retinoblastoma, and the linkage of retinoblastoma with the genetic marker esterase D, which resulted in the eventual cloning of the gene.
|
2227145 |
1990 |
|
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 |
The results showed the importance of ESD studies in all retinoblastoma patients and their relatives.
|
2596526 |
1989 |
|
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 |
Biomarker
|
disease |
BEFREE |
So, the conclusion might be drawn that screening of all retinoblastoma patients for esterase D in order to get insight in the weighting of risk of retinoblastoma is very much open to question and due to high cost efficiency ratio might not be recommended.
|
3164261 |
1988 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
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 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A "new" allele of esterase D in a retinoblastoma family.
|
3346019 |
1988 |
|
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 |
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 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A null allele of esterase D is a marker for genetic events in retinoblastoma formation.
|
3471703 |
1987 |
|
Retinoblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A patient with an interstitial deletion 13q14 is described who has decreased erythrocyte esterase D activity and who has not developed a retinoblastoma.
|
3679214 |
1987 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The 13q14 breakpoint, therefore, appears to have occurred between the two loci, which places the esterase D gene in a more proximal position in this band than the retinoblastoma locus.
|
3472646 |
1987 |
|
Retinoblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In spite of an increased number of apparently normal chromosomes #13, a 50% reduction in esterase D activity in osteosarcoma cells from the retinoblastoma patient was observed.
|
2878716 |
1987 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Re-evaluation of the sublocalization of esterase D and its relation to the retinoblastoma locus by in situ hybridization.
|
3032521 |
1987 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 10-15% of retinoblastoma families therefore, it is possible to offer prenatal diagnosis using the ESD protein polymorphism.
|
3620311 |
1987 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay.
|
3502696 |
1987 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A case that was informative at several loci indicated the occurrence of meiotic recombination, and accurate prediction was based on data obtained with DNA markers and isozymic forms of esterase D. The calculated predictive accuracy in another case, which was informative only for loci distal to the retinoblastoma locus, was about 70 percent.
|
3702916 |
1986 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These observations demonstrate the benefit of screening retinoblastoma populations for esterase D deficiency.
|
3943870 |
1986 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma.
|
3462698 |
1986 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (Rb) occurs in hereditary, non-hereditary, and chromosomal deletion forms and the locus for the Rb gene (Rb-1) is closely linked to the locus for esterase D (ESD) assigned to the chromosome 13q14.11.
|
3864729 |
1985 |