×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Prion mutation D178N with highly variable disease onset and phenotype.
19228673 2009
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
Biomarker
LHGDN
Differences of apparent diffusion coefficient values in patients with Creutzfeldt-Jakob disease according to the codon 129 genotype.
18372408 2008
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
We identified two different rare mutations in codon 188 of the prion protein gene (PRNP) in four patients suffering from a disease clinically very similar to the major subtype of sporadic CJD .
18478114 2008
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean population.
18549395 2008
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
Biomarker
LHGDN
Regulations leading to variations of PrP(res) pattern between brain regions in sCJD patients, involving host genotype and Western blot type of PrP(res) may contribute to the specific brain targeting of prion strains and have direct implications for the diagnosis of the different forms of CJD .
18665216 2008
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
AlteredExpression
LHGDN
Resistance of bovine spongiform encephalopathy (BSE) prions to inactivation.
19008948 2008
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation.
17334659 2007
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Prion protein and the red cell.
17414209 2007
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Polymorphism distribution of prion protein codon 117, 129 and 171 in Taiwan.
17410475 2007
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Protease-resistant prion protein in lymphoreticular tumors of variant Creutzfeldt-Jakob disease mice.
16704797 2006
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type.
16847689 2006
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Autopsy-proven Creutzfeldt-Jakob disease with a codon 180 mutation showing dissociation between diffusion-weighted magnetic resonance imaging and single-photon emission computed tomography findings: Is this a suggestive finding in long survival?
16921242 2006
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.
16533975 2006
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients.
16889908 2006
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
A polymorphism at codon 129 of PRNP gene has been implicated in the development of variant CJD .
16547836 2006
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
While PrP(C) conversion is thought to be random in sCJD , conversion in fCJD is facilitated by the congenital presence of mutated PrP.
16314483 2005
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.
16217673 2005
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
Biomarker
LHGDN
Neuropathologic characteristics of spinal cord lesions in sporadic Creutzfeldt-Jakob disease.
16175355 2005
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
Biomarker
LHGDN
Identification of distinct N-terminal truncated forms of prion protein in different Creutzfeldt-Jakob disease subtypes.
15247220 2004
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC.
15123682 2004
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP .15557533 2004
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
Biomarker
LHGDN
The central event in the pathogenesis of prion diseases, a group of fatal, transmissible neurodegenerative disorders including Creutzfeldt-Jakob disease (CJD ) in humans, is the conversion of the normal or cellular prion protein (PrPC ) into the abnormal or scrapie isoform (PrPSc).
12917418 2003
×
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
Creutzfeldt-Jakob disease
1.000
GeneticVariation
LHGDN
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry?
12459456 2002