rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
This is the largest study on E200K gCJD patients in China, which would benefit to the knowledge of E200K gCJD.
|
30755683 |
2019 |
rs28933385
|
|
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 |
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 |
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 |
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
|
BEFREE |
Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose.
|
23296137 |
2013 |
rs28933385
|
|
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 |
rs28933385
|
|
Creutzfeldt-Jakob disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L.
|
23555862 |
2013 |
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 |
Recently, we reported widespread intraneuronal prion protein (PrP) immunoreactivity in genetic Creutzfeldt-Jakob disease (CJD) associated with the E200K mutation.
|
22318125 |
2012 |
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 |
The purpose of this study was (1) to detect asymptomatic carriers of the prion protein gene mutation E200K, which is associated with Creutzfeldt-Jakob disease (CJD), in corneal donors and in the general population of Slovakia and (2) to assess the genetic testing of corneal donors as an effective preventive measure against iatrogenic infection in a country with an unusually high incidence of genetic CJD.
|
21508834 |
2011 |
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
|
BEFREE |
Pruritus is relatively common in patients with familial CJD carrying the E200K mutation.
|
20725737 |
2011 |
rs28933385
|
|
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 |
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
|
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 |
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 |
The clinical diagnosis of possible genetic Creutzfeldt-Jakob disease (CJD) has been confirmed by PRNP gene analysis which revealed the presence of a E200K mutation.
|
20730466 |
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 |
Our report supports the variability of the clinical expression of the E200K genetic CJD.
|
19597763 |
2009 |
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 |
To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation.
|
19822779 |
2009 |
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 |