PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism (Q33520832)

27 July 2017

title

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism (English)

1 reference

27 July 2017

5

Richard S G Knight

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27 July 2017

4

Robert G Will

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27 July 2017

Matthew T Bishop

1

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27 July 2017

Catherine Pennington

series ordinal

2

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27 July 2017

Craig A Heath

series ordinal

3

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27 July 2017

publication date

26 December 2009

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27 July 2017

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27 July 2017

volume

10

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27 July 2017

page(s)

146

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Creutzfeldt-Jakob disease and blood transfusion: results of the UK Transfusion Medicine Epidemiological Review study

27 July 2017

cites work

1 reference

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Variant Creutzfeldt-Jakob disease: prion protein genotype analysis of positive appendix tissue samples from a retrospective prevalence study

21 June 2018

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Predictors of survival in sporadic Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies.

21 June 2018

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Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient

21 June 2018

1 reference

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Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

21 June 2018

1 reference

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Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene

21 June 2018

1 reference

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Mutations of the prion protein gene phenotypic spectrum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806268

Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.

21 June 2018

1 reference

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Functional characterization of the human prion protein promoter in neuronal and endothelial cells

21 June 2018

1 reference

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Isolation and functional characterisation of the promoter region of the human prion protein gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806268

Laboratory diagnosis of variant Creutzfeldt-Jakob disease.

21 June 2018

1 reference

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Interactions between heterologous forms of prion protein: binding, inhibition of conversion, and species barriers

21 June 2018

1 reference

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Diagnosis of new variant Creutzfeldt-Jakob disease

21 June 2018

1 reference

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Analysis of 27 mammalian and 9 avian PrPs reveals high conservation of flexible regions of the prion protein

21 June 2018

1 reference

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Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease

21 June 2018

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A new variant of Creutzfeldt-Jakob disease in the UK.

21 June 2018

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Novel proteinaceous infectious particles cause scrapie

21 June 2018

1 reference

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Deletion in prion protein gene in a Moroccan family

21 June 2018

1 reference

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Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

21 June 2018

1 reference

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Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent

21 June 2018

1 reference

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Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report.

21 January 2018

1 reference

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Genetic prion disease: the EUROCJD experience.

21 January 2018

1 reference

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The normal population distribution of PRNP codon 129 polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Predicting susceptibility and incubation time of human-to-human transmission of vCJD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Deletions in the prion protein gene are not associated with CJD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-146

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2806268

Human transmissible spongiform encephalopathies

31 October 2018

1 reference

12 December 2020

Surveillance of Creutzfeldt Jakob disease in the United Kingdom

1 reference

12 December 2020

Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK

1 reference

12 December 2020

Codon 129 prion protein genotype and sporadic Creutzfeldt-Jakob disease

1 reference

12 December 2020

Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population

1 reference

12 December 2020

New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-10-146

1 reference

Dimensions Publication ID

27 July 2017

0 references

1 reference

27 July 2017

1 reference