PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: New Variant Creutzfeldt-Jakob Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Since variant Creutzfeldt-Jakob disease (vCJD) was described for the first time in 1995 and fears of an epidemic ensued, the assumed culprit the prion protein (PrP) and its precursor the prion-gene (PRNP) have been subjects to intense studies. 17987393 2008
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Molecular analysis of PrP(Sc) (the scrapie isoform of PrP) from cerebellar tissue demonstrated a novel PrP(Sc) type similar to that seen in vCJD (PrP(Sc) type 4). 18071044 2007
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE We show that one such technique, protein misfolding cyclic amplification (PMCA), can amplify vCJD PrP(Sc) from human brain tissue, and that the degree of amplification is dependent upon the substrate PRNP codon 129 polymorphism. 17614097 2007
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE To date, all patients with vCJD are homozygous for methionine at codon 129 of the PrP gene. 16480953 2006
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE These data argue that human PRNP 129 heterozygotes will be more susceptible to infection with vCJD prions than to cattle BSE prions and may present with a neuropathological phenotype distinct from vCJD. 16809423 2006
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE This minority type 1 PrP(Sc) was found in all 21 cases of variant Creutzfeldt-Jakob disease tested, irrespective of brain region examined, and was also present in the variant Creutzfeldt-Jakob disease tonsil. 16400018 2006
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Peripheral accumulation of abnormal prion protein (PrP) in variant Creutzfeldt-Jakob disease and some animal models of transmissible spongiform encephalopathies (TSEs) may occur in the lymphoreticular system. 16767691 2006
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE Variant Creutzfeldt-Jakob disease: prion protein genotype analysis of positive appendix tissue samples from a retrospective prevalence study. 16606639 2006
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE Variant Creutzfeldt-Jakob disease (vCJD) differs from other human prion diseases in that the pathogenic prion protein PrP(Sc) can be detected to a greater extent at extraneuronal sites throughout the body, principally within lymphoid tissues. 16507908 2006
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE Genotype frequencies at codon 129 of the prion protein gene in Brazil: Implications in susceptibility to variant Creutzfeldt-Jakob disease compared to European and Asian populations. 16119432 2005
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Prion protein heterogeneity in sporadic but not variant Creutzfeldt-Jakob disease: UK cases 1991-2002. 15174020 2004
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Western blot analysis of PrP(Sc) in the brain in vCJD tissue shows a uniform isotype, with a glycoform ratio characterized by predominance of the diglycosylated band, distinct from sporadic CJD. 15148991 2004
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE The patient was a heterozygote at codon 129 of PRNP, suggesting that susceptibility to vCJD infection is not confined to the methionine homozygous PRNP genotype. 15302196 2004
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE In this study, we present analyses of predictors of survival in sporadic (n = 2304), iatrogenic (n = 106) and variant Creutzfeldt-Jakob disease (n = 86) and in cases associated with mutations of the prion protein gene (n = 278), including Gerstmann-Sträussler-Scheinker syndrome (n = 24) and fatal familial insomnia (n = 41). 15361416 2004
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE The national CJD surveillance unit reported all cases of probable or definite vCJD to the UK blood services, which searched for donation records at blood centres and hospitals. 14962520 2004
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE No structural changes were found in the PRNP gene, which excludes genetic prion disease, but the patient's PRNP codon 129 Met/Met genotype is known to predispose to variant Creutzfeldt-Jakob disease (vCJD). 15521976 2004
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Further studies are required to develop more sensitive means of detection of disease-associated prion protein in blood; such techniques could also be employed for screening purposes, both individually and to help ascertain more precisely the likely numbers of future cases of vCJD. 12871283 2003
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease CTD_human Copper reduction by copper binding proteins and its relation to neurodegenerative diseases. 12572668 2003
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE As exemplified by variant Creutzfeldt-Jakob disease (vCJD) the abnormal prion protein can accumulate in the host lymphoid system, in particular the follicular dendritic cells. 12679264 2003
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE The pathology of vCJD showed relatively uniform morphological and immunocytochemical characteristics, which were distinct from other forms of CJD. 12064259 2002
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE Here we show that transgenic mice expressing human PrP methionine 129, inoculated with either bovine spongiform encephalopathy (BSE) or variant CJD prions, may develop the neuropathological and molecular phenotype of vCJD, consistent with these diseases being caused by the same prion strain. 12456643 2002
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE Here, we report that knock-in mouse expressing humanized chimeric PrP demonstrated PrP(Sc) accumulations in follicular dendritic cells following human prion infections, including variant Creutzfeldt-Jakob disease. 12051707 2002
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE However, although our sample size was necessarily small, no association was found between these polymorphisms and vCJD or iatrogenic CJD, in keeping with their having distinct disease mechanisms. 11704923 2001
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 Biomarker disease BEFREE In this review I covered recent data on the vCJD and BSE epidemic, the mode of BSE spreading to humans and, finally, the data on the PRNP analogue--the doppel gene (PRND). 11693716 2000
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.600 GeneticVariation disease BEFREE All analysed cases of vCJD were methionine homozygotes at codon 129 of the PrP gene. 10931212 2000