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rs28933385
|
|
Creutzfeldt-Jakob disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
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
|
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
|
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |
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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 |
Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene.
|
23565236 |
2013 |
|
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 |
Animals injected with iatrogenic Creutzfeldt-Jakob disease MM1 and genetic Creutzfeldt-Jakob disease MM1 linked to the E200K mutation showed the same phenotypic features as those infected with sporadic Creutzfeldt-Jakob disease MM1 prions, whereas kuru most closely resembled the sporadic Creutzfeldt-Jakob disease VV2 or MV2 prion signature and neuropathology.
|
20823086 |
2010 |
|
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 |
Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease.
|
20529115 |
2010 |
|
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
|
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Exome sequencing of the three CJD patients with E200K and 11 of the family of one patient (case1) were performed using the Illumina HiSeq 2000.
|
25149502 |
2014 |
|
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 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease.
|
22072968 |
2011 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
FFI, T188K gCJD and E200K were the three most common subtypes.
|
26488179 |
2015 |
|
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.
|
20593190 |
2011 |
|
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 |
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 |
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
|
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
|
BEFREE |
Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose.
|
23296137 |
2013 |
|
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 |
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
|
1975028 |
1990 |