|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Paradoxically, the 129M/V polymorphism suggestive of heterozygote advantage is one of the most clear cut disease associated traits of the human population, yet prion disease is extraordinarily rare.
|
24398570 |
2015 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age.
|
23406923 |
2014 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
GWASDB |
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
|
22210626 |
2012 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
GWASCAT |
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
|
22210626 |
2012 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The characterization of the PRNP gene should always include the description of the pathogenic mutation, as well as the status at each allele of the polymorphic codon 129 (M129V), a well-established susceptibility marker and phenotypic variability factor for different types of human prion diseases.
|
19684471 |
2010 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism (SNP) in codon 129 of the human prion gene, leading to a change from methionine to valine at residue 129 of prion protein (PrP), has been shown to be a determinant in the susceptibility to prion disease.
|
20685658 |
2010 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases.
|
20592456 |
2010 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Knowledge of M129V polymorphism in normal populations may contribute to a better understanding of prion diseases.
|
18720902 |
2008 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide.
|
30755683 |
2019 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compared to ND, t-PrP concentrations were significantly decreased in sCJD, iCJD and in genetic prion diseases associated with the three most common mutations E200K, V210I (associated with genetic CJD) and D178N-129M (associated with fatal familial insomnia).
|
30062673 |
2019 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene.
|
31397917 |
2019 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compared to ND, t-PrP concentrations were significantly decreased in sCJD, iCJD and in genetic prion diseases associated with the three most common mutations E200K, V210I (associated with genetic CJD) and D178N-129M (associated with fatal familial insomnia).
|
30062673 |
2019 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at codon 178 of the prion-protein gene leading to a D178N substitution in the protein determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei.
|
30890351 |
2019 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compared to nonprimarily neurodegenerative neurological and psychiatric diseases, NFL was also elevated in genetic prion diseases associated with the E200K, V210I, P102L, and D178N prion protein gene mutations.
|
29391125 |
2018 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compared to nonprimarily neurodegenerative neurological and psychiatric diseases, NFL was also elevated in genetic prion diseases associated with the E200K, V210I, P102L, and D178N prion protein gene mutations.
|
29391125 |
2018 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Additionally, increased YKL-40 levels were found in genetic prion diseases associated with the PRNP-D178N (Fatal Familial Insomnia) and PRNP-E200K mutations.
|
29126445 |
2017 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While numerous proteins form fibrils by prion-like seeded polymerization <i>in vitro</i>, only some are transmissible and pathogenic <i>in vivo</i> To probe the structural features that confer transmissibility to prion protein (PrP) fibrils, we have analyzed synthetic PrP amyloids with or without the human prion disease-associated P102L mutation.
|
28835493 |
2017 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele.
|
28324299 |
2017 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Additionally, increased YKL-40 levels were found in genetic prion diseases associated with the PRNP-D178N (Fatal Familial Insomnia) and PRNP-E200K mutations.
|
29126445 |
2017 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population.
|
29245265 |
2017 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I and FFI), codon 129 genotype, and PrP(Sc) type affected RT-QuIC response.
|
24809690 |
2015 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study.
|
25220284 |
2015 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The present study investigates whether posttranslational modifications of cellular prion protein (PrP(C)) in the cerebrospinal fluid (CSF) of humans with prion diseases are associated with methionine (M) and/or valine (V) polymorphism at codon 129 of the prion protein gene (PRNP), scrapie prion protein (PrP(Sc)) type in sporadic Creutzfeldt-Jakob disease (sCJD), or PRNP mutations in familial Creutzfeldt-Jakob disease (fCJD/E200K), and fatal familial insomnia (FFI).
|
24360565 |
2014 |