|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
|
9727717 |
1998 |
|
Gyrate Atrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The pattern of neural retina OAT mRNA expression may have important implications in determining the appropriate tissue approach in gene therapy for gyrate atrophy.
|
9815288 |
1998 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The pattern of neural retina OAT mRNA expression may have important implications in determining the appropriate tissue approach in gene therapy for gyrate atrophy.
|
9815288 |
1998 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
A gyrate atrophy-like phenotype can result from causes other than deficient ornithine-delta-aminotransferase.
|
9355188 |
1997 |
|
Gyrate Atrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The data show that overexpression of OAT in keratinocytes cultured from a gyrate atrophy patient restores ornithine metabolism and results in a rate of ornithine disappearance from the medium that is significantly higher than the rate of disappearance from the medium bathing normal keratinocytes.
|
9415309 |
1997 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients.
|
9414260 |
1997 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, loss of OAT function causes an accumulation of ornithine that results in gyrate atrophy of the choroid and retina, a disease that progressively leads to blindness.
|
9309222 |
1997 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify mutations in ornithine aminotransferase (OAT) in seven Japanese families with gyrate atrophy (GA), an autosomal recessive chorioretinal degeneration of the eye caused by a generalized biochemical deficiency in OAT; mutations in the OAT gene have shown a high degree of molecular heterogeneity.
|
8670789 |
1996 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA).
|
7887415 |
1995 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
OAT-deficient mice appear to be an excellent model of human GA.
|
7550347 |
1995 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
OAT-deficient mice appear to be an excellent model of human GA.
|
7550347 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
It is interesting that, although the mutation site (Q90E) in this GACR patient's OAT was within the coding sequence of the mature protein, the precursor exhibited loss of mitochondrial targeting function.
|
7668253 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gyrate atrophy (GA) of the choroid and retina is an autosomal recessive chorioretinal degeneration, caused by deficiency of the mitochondrial matrix enzyme ornithine-delta-aminotransferase (OAT).
|
7712330 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V, we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM.
|
7887415 |
1995 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
MGD |
OAT-deficient mice appear to be an excellent model of human GA.
|
7550347 |
1995 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because mutations in the OAT gene show a high degree of molecular heterogeneity in GA, the authors set out to determine the mutations by rapid and efficient methods.
|
8125717 |
1994 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Similar results were observed for two nonsense mutations in the gene encoding ornithine delta-aminotransferase from patients with gyrate atrophy.
|
8430317 |
1993 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Reproducing these mutations by site-directed mutagenesis and expressing the mutant ornithine delta-aminotransferase in Chinese hamster ovary cells confirms that several of these mutations inactivate ornithine delta-aminotransferase and cause gyrate atrophy in these patients.
|
1737786 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using the combined techniques of PCR, denaturing gradient gel electrophoresis, and direct sequencing, we have identified three nonsense-codon mutations and one nonsense codon-generating mutation of the OAT gene in GA pedigrees.
|
1609808 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previously, we and others have reported a number of missense mutations and splice defects in the OAT gene associated with GA.
|
1301936 |
1992 |
|
Gyrate Atrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Using the combined techniques of PCR, denaturing gradient gel electrophoresis, and direct sequencing, we have identified three nonsense-codon mutations and one nonsense codon-generating mutation of the OAT gene in GA pedigrees.
|
1609808 |
1992 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Using the combined techniques of PCR, denaturing gradient gel electrophoresis, and direct sequencing, we have identified three nonsense-codon mutations and one nonsense codon-generating mutation of the OAT gene in GA pedigrees.
|
1609808 |
1992 |
|
Gyrate Atrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment and the absence of OAT mRNA on Northern blot analysis.
|
1618792 |
1992 |
|
Gyrate Atrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.
|
1612597 |
1992 |
|
Gyrate Atrophy
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Despite the limited success, the ability to express active OAT in these OAT-deficient cells using an expression vector offers possibilities of replacement gene therapy for gyrate atrophy.
|
1635292 |
1992 |