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rs28933385
|
|
Creutzfeldt-Jakob disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
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rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
|
1671440 |
1991 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
|
1975028 |
1990 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
|
7906019 |
1994 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
|
7913755 |
1994 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
|
8461023 |
1993 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.
|
8529127 |
1995 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We studied prion proteins (PrP) in skin and brains of Libyan Jews carrying the E200K mutation who died of familial Creutzfeldt-Jakob disease (CJD).
|
8564843 |
1996 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
|
8909447 |
1996 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We measured wt and mutant PrP protein and mRNA in Epstein-Barr virus (EBV)-transformed B cells of either E200K CJD patients or healthy E200K carriers.
|
9305353 |
1997 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
It is suggested that there is a small cluster of CJD patients with a founder effect of the E200K mutation in the Fuji area, because the incidence of CJD with the E200K mutation appears to be much higher in this area than other areas in Japan.
|
9864731 |
1998 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)).
|
10360778 |
1999 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease.
|
10522892 |
1999 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation.
|
10665501 |
2000 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
|
10790216 |
2000 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Similar changes were found in the PrP isolated from brains of patients affected by the E200K variant of Creutzfeldt-Jakob disease.
|
10934164 |
2000 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in PRNP (E200KCJD), is the most prevalent of the inherited prion diseases.
|
11259483 |
2001 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Insomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected.
|
11839833 |
2002 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
An identical pathogenic mutation at the homologous codon position (E200K) in the human Prnp has been described as the most common cause of genetic CJD.
|
18787697 |
2008 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Prions from E200K and classical CJD M129 homozygous patients, transmitted disease with equivalent efficiencies and short incubation periods in human PrP 200K, 129M transgenic mice.
|
19218199 |
2009 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
As part of a large prospective study, we analysed early diffusion MRI scans of 14 patients with the E200K genetic form of Creutzfeldt-Jakob Disease, 20 healthy carriers of this mutation that causes the disease and 20 controls without the mutation from the same families.
|
19321460 |
2009 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our report supports the variability of the clinical expression of the E200K genetic CJD.
|
19597763 |
2009 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation.
|
19822779 |
2009 |