|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic diagnosis of Gaucher's disease.
|
1348297 |
1992 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
About 30 identified missense mutations are causal to the defective activity of acid beta-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher disease type 1 patient whose 80-year-old, enzyme-deficient, 1226G (Asn370----Ser [N370S]) homozygous grandfather was nearly asymptomatic.
|
1415223 |
1992 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Jewish patients with Gaucher disease.
|
1558964 |
1992 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of human glucocerebrosidase from different mutant alleles.
|
1704891 |
1991 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
|
1840477 |
1991 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three unique base pair changes in a family with Gaucher disease.
|
1864608 |
1991 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Sequence of two alleles responsible for Gaucher disease.
|
1972019 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sequence of two alleles responsible for Gaucher disease.
|
1972019 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
|
1974409 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prevalent and rare mutations among Gaucher patients.
|
2269438 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genotypes at the acid beta-glucosidase locus in selected Gaucher disease Type 1 patients were determined by allele-specific oligonucleotide hybridization of amplified genomic DNA.
|
2324100 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.
|
2495719 |
1989 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
|
2508065 |
1989 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
|
3353383 |
1988 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These kinetic, immunologic, and thermostability studies indicated that 1) type 1 Gaucher disease is biochemically heterogeneous and results from at least four distinct allelic acid beta-glucosidase mutations that alter enzyme structure and/or function, 2) neuronopathic and non-Jewish non-neuronopathic phenotypes cannot be distinguished reliably by kinetic analyses alone, and 3) the Ashkenazi type 1 Gaucher disease results from a unique mutation that alters a specific active site domain of acid beta-glucosidase.
|
3927728 |
1985 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These inhibition studies indicated that: Gaucher disease type 1 is biochemically heterogeneous, neuronopathic and non-Jewish nonneuronopathic phenotypes cannot be reliably distinguished by these inhibitor studies, and the Ashkenazi Jewish form of Gaucher disease type 1 results from a unique mutation in a specific active site domain of acid beta-glucosidase that leads to a defective enzyme with a decreased Vmax.
|
4003396 |
1985 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hydrops fetalis associated with Gaucher disease.
|
6504764 |
1984 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and beta-hexosaminidase activities but with a normal level of lactic dehydrogenase activity.
|
6859103 |
1983 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
|
7475546 |
1995 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Gaucher disease in Spanish patients: analysis of eight mutations.
|
7627184 |
1995 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.
|
7627192 |
1995 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
|
7916532 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
|
7916532 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
|
8076951 |
1994 |