|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No evidence was found for a relation of SNP 1368 to CJD independent of PRNP M129V.
|
14970845 |
2004 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there are also other coding and non-coding polymorphisms inside this gene.
|
21600043 |
2011 |
|
rs1799990
|
|
A |
0.900 |
GeneticVariation |
GWASCAT |
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
|
19081515 |
2009 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Prion protein gene polymorphism M129V represents a known risk factor for Creutzfeldt-Jakob disease.
|
16897605 |
2006 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The polymorphism at codon 129 (M129V) of the prion protein gene (PRNP) is a recognized genetic marker for susceptibility to Creutzfeldt-Jakob disease (CJD) in the Caucasians.
|
16324095 |
2005 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In our study -101G polymorphism is over-represented among sCJD PRNP codon 129M/V cases compared with the control group.
|
17134829 |
2007 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Notably, mice expressing only PrP V127 were completely resistant to all prion strains, demonstrating a different molecular mechanism to M129V, which provides its relative protection against classical CJD and kuru in the heterozygous state.
|
26061765 |
2015 |
|
rs1799990
|
|
A |
0.900 |
GeneticVariation |
GWASDB |
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
|
19081515 |
2009 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The polymorphism at codon 129 (M129V) of the human prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD) in Caucasians.
|
17202849 |
2006 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP).
|
12815603 |
2003 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.
|
11840201 |
2001 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The methionine/valine polymorphism at position 129 in the prion protein gene, PRNP M129V, is a known risk factor for Creutzfeldt-Jakob disease (CJD).
|
16949098 |
2007 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V).
|
8647879 |
1996 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our proband was MM homozygous for the M129V polymorphism within the prion protein gene (PRNP), a known risk factor for CJD.
|
18236005 |
2008 |
|
rs1799990
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180.
|
26022925 |
2015 |
|
rs28933385
|
|
|
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
|
|
|
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
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28933385
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
|
rs28933385
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose.
|
23296137 |
2013 |
|
rs28933385
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
|
7902693 |
1993 |