Creutzfeldt-Jakob disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Protease-resistant PrP was found in both patients with fatal familial insomnia, but the size and number of protease-resistant fragments differed from those in Creutzfeldt-Jakob disease.
|
1346338 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The concentration of PrP mRNA was similar in fibroblast lines derived from controls and CJD patients.
|
1352391 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.
|
1353341 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A group of 43 patients from seven families affected by Creutzfeldt-Jakob disease (CJD) with the codon 178Asn mutation of the PRNP amyloid precursor gene is compared to a group of 211 patients with the sporadic form of the disease.
|
1353342 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We examined 7 patients with Creutzfeldt-Jakob disease (CJD) with a methionine-to-valine change at prion protein (PrP) codon 129 (CJD129 patients).
|
1359725 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe 2 patients of Jewish Libyan descent, who presented with a clinical syndrome compatible with Creutzfeldt-Jakob disease and who were found to have a mutation of codon 200 in the prion protein.
|
1362595 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.
|
1439789 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene.
|
1439789 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
|
1671440 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Examination of the prion protein genes of all these cases and of a single case of gonadotropin-related CJD showed that 4 had the uncommon valine 129 homozygous genotype indicating genetic susceptibility to prion infection.
|
1675319 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite their experimental transmissibility, missense and insertional mutations in the prion protein gene are associated with both GSS and familial CJD, demonstrating that the human familial cases are autosomal dominant diseases.
|
1677164 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Creutzfeld-Jacob disease and Gerstmann-Sträussler syndrome are rare degenerative disorders of the nervous system which have been genetically linked to the prion protein (PrP) gene.
|
1678248 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The PRNP gene, encoding the amyloid precursor protein that is centrally involved in Creutzfeldt-Jakob disease (CJD), has an unstable region of five variant tandem octapeptide coding repeats between codons 51 and 91.
|
1683708 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cases of familial Creutzfeldt-Jakob disease (CJD) with mutations in the PRNP gene were analyzed for distinctive clinico-pathological and experimental transmission characteristics.
|
1684754 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.
|
1684755 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies disclosed a new G-to-A mutation in codon 178 of the PRNP gene (resulting in a substitution of asparagine for aspartic acid) in the DNA of eight family members with CJD but not in any of ten currently healthy first degree relatives of the patients, or 86 controls.
|
1684756 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the prion protein gene in Creutzfeldt-Jakob disease in Jewish patients of Libyan, Greek, and Tunisian origin.
|
1685643 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of this and other families with similar inserts suggests that such mutations in the PRNP gene not only predispose to CJD, but also modify its phenotypic expression.
|
1736177 |
1992 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
|
1975028 |
1990 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease.
|
2008182 |
1991 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene.
|
2159587 |
1990 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the prion protein genotype analysis of other patients with CJD, the Leu102 allele was revealed to be carried heterozygously by 6 of 7 patients who had CJD with congophilic kuru plaques, yet no patient with CJD without congophilic kuru plaques had this allele.
|
2180366 |
1990 |
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The polymerase chain reaction was used to screen DNA samples from 12 unrelated individuals with various familial dementias and ataxias for mutation in part of the prion protein (PrP) gene, an abnormality that occurs in individuals with the spongiform encephalopathies, Gerstmann-Sträussler syndrome (GSS) and Creutzfeldt-Jakob disease.
|
2567794 |
1989 |