|
rs372805579
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.
|
10483920 |
1999 |
|
rs368821179
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity.
|
10408557 |
1999 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We used a cell model to study biosynthesis and processing of PrP(M) carrying the glutamic acid to lysine substitution at residue 200 (E200K), which is linked to the most common inherited human prion disease.
|
10934164 |
2000 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The present structural data strongly suggest that protein surface defects leading to abnormalities in the interaction of prion protein with auxiliary proteins/chaperones or cellular membranes should be considered key determinants of a spontaneous PrP(C) --> PrP(Sc) conversion in the E200K form of hereditary prion disease.
|
10954699 |
2000 |
|
rs74315413
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A variant of prion encephalopathy associated with the novel H187R mutation in the PRNP gene displays distinctive clinical and immunostaining characteristics that further expand the boundaries of human prion disease.
|
10953183 |
2000 |
|
rs1800014
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The antibodies may help to explore the relationship of 219Glu/Lys polymorphism to the pathogenesis of human prion diseases.
|
10889337 |
2000 |
|
rs398122370
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
|
rs776593792
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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
|
|
|
0.800 |
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 |
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.
|
11385020 |
2001 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.
|
12205650 |
2002 |
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Molecular dynamics calculations demonstrated the conformational change in the prion protein due to Ala(117)-->Val mutation, which is related to Gerstmann-Sträussler-Sheinker disease, one of the familial prion diseases.
|
11964260 |
2002 |
|
rs372878791
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two Creutzfeldt-Jakob disease-associated PrP mutants, PrP T188K and PrP T188R, revealed a secretory pathway to the cell membrane and PrP(Sc)-like properties, i.e. enhanced proteinase K resistance and detergent insolubility similar to other mutant PrPs associated with familial prion diseases.
|
11756421 |
2002 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary transmissible spongiform encephalopathy associated with prion protein gene mutation P102L.
|
12682740 |
2003 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Familial fatal insomnia (FFI)--a hereditary prion disease caused by a mutation at codon 178 of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein--and its sporadic form, sporadic fatal insomnia (SFI), have similar disease phenotypes.
|
12849238 |
2003 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we report that this peptide-induced disease can be serially passaged in Tg196 mice and that the PrP conformers accompanying disease progression are conformationally indistinguishable from MoPrP(Sc)(P101L) found in Tg2866 mice developing spontaneous prion disease</span>.
|
14747574 |
2004 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familial insomnia (FFI) is a prion disease exhibiting the PRNP D178N/129M genotype.
|
15311348 |
2004 |
|
rs74315411
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Loss of glycosylation associated with the T183A mutation in human prion disease.
|
15558291 |
2004 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJD), two with dural graft associated CJD (dCJD), one with Gerstmann-Straussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), and two with a P105L mutation (GSS105).
|
15716520 |
2005 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993.
|
15806397 |
2005 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypic variability in familial prion diseases due to the D178N mutation.
|
16227536 |
2005 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We studied two patients with symptomatic inherited prion disease (P102L) and two pre-symptomatic P102L gene carriers using quantitative magnetic resonance spectroscopy (MRS).
|
16598479 |
2006 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation.
|
17029785 |
2006 |
|
rs761807915
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates.
|
17873292 |
2007 |
|
rs1799990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Knowledge of M129V polymorphism in normal populations may contribute to a better understanding of prion diseases.
|
18720902 |
2008 |