|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with 13q14 deletion have RB, and segregation of RB with markers (Q-banding and Esterase D) on chromosome 13 can be studied in some two-generation RB families.
|
7413148 |
1980 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The gene dosage approach was used in the mapping of the esterase D and retinoblastoma locus on the long arm of chromosome 13.
|
6159813 |
1980 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.
|
7375916 |
1980 |
|
Retinoblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
It is suggested that esterase D activity should become an important diagnostic criteria for the various etiological forms of retinoblastoma.
|
7327583 |
1981 |
|
Retinoblastoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A 153% value of ESD activity was found in the amniotic cells indicating unambiguously that the fetus was not monosomic for segment 13q14 and therefore not at increased risk for Rb.
|
7116321 |
1982 |
|
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 |
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 |
We tentatively conclude that induction of a retinoblastoma tumour requires the somatic inactivation of genes near the ESD locus including the remaining normal gene at the retinoblastoma (RB) locus.
|
6877367 |
1983 |
|
Retinoblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The normal esterase D levels in this series of 51 retinoblastoma patients suggest that deletion of an esterase D locus is infrequent in retinoblastoma patients.
|
6885050 |
1983 |
|
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 |
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 |
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3).
|
6500578 |
1984 |
|
Retinoblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Determinations of esterase D isoenzymes in the members of a family with hereditary retinoblastoma gave results consistent with linkage between the loci for esterase D and retinoblastoma.
|
6731533 |
1984 |
|
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 |
|
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 |
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 |