|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype.
|
20514992 |
2010 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, we reported widespread intraneuronal prion protein (PrP) immunoreactivity in genetic Creutzfeldt-Jakob disease (CJD) associated with the E200K mutation.
|
22318125 |
2012 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose.
|
23296137 |
2013 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
To this effect, we subjected blood mRNA from E200K PrP CJD patients and corresponding family members to global arrays and found that the expression of Snord3A, a non-coding RNA transcript, was elevated several times in CJD patients as compared to controls, while asymptomatic carriers presented intermediate Snord3A levels.
|
23349890 |
2013 |
|
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 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common hereditary prion disease is a genetic form of Creutzfeldt-Jakob disease in humans, in which a mutation in the prion gene results in a glutamic acid to lysine substitution at position 200 (E200K) in PrP.
|
30354921 |
2018 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our report supports the variability of the clinical expression of the E200K genetic CJD.
|
19597763 |
2009 |
|
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 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
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 |
|
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 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease.
|
22072968 |
2011 |
|
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 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
|
1671440 |
1991 |
|
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 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation.
|
10665501 |
2000 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
|
8909447 |
1996 |
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G > A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein.
|
25279981 |
2014 |