Cargando…

A case report of genetic prion disease with two different PRNP variants

BACKGROUND: Prion diseases are a group of lethal neurodegenerative conditions that occur when the normal, cellular form of the prion protein (PrP(C)) is converted into an abnormal, scrapie, form of the protein (PrP(Sc)). Disease may be caused by genetic, infectious, or sporadic etiologies. The genet...

Descripción completa

Detalles Bibliográficos
Autores principales:	Piazza, Megan, Prior, Thomas W., Khalsa, Prabhjot S., Appleby, Brian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057106/ https://www.ncbi.nlm.nih.gov/pubmed/31953922 http://dx.doi.org/10.1002/mgg3.1134

Ejemplares similares

Genetic Variation in the Prion Protein Gene (PRNP) of Two Tunisian Goat Populations
por: Kdidi, Samia, et al.
Publicado: (2021)

Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
por: Capellari, Sabina, et al.
Publicado: (2018)

First report of a novel polymorphism and genetic characteristics of the leporine prion protein (PRNP) gene
por: Kim, Dong-Ju, et al.
Publicado: (2023)

Polymorphism of prion protein gene (PRNP) in Nigerian sheep
por: Adeola, Adeniyi C., et al.
Publicado: (2023)

Novel polymorphisms in the prion protein gene (PRNP) and stability of the resultant prion protein in different horse breeds
por: Sola, Diego, et al.
Publicado: (2023)

A novel PRNP-G131R variant associated with familial prion disease
por: Alshaikh, Jumana T., et al.
Publicado: (2020)

Prion infectivity in the spleen of a PRNP heterozygous individual with subclinical variant Creutzfeldt–Jakob disease
por: Bishop, Matthew T., et al.
Publicado: (2013)

Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (PRNP) in Dogs—A Resistant Animal of Prion Disease
por: Kim, Dong-Ju, et al.
Publicado: (2020)

Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland
por: Peletto, Simone, et al.
Publicado: (2009)

Disparate Modes of Evolution Shaped Modern Prion (PRNP) and Prion-Related Doppel (PRND) Variation in Domestic Cattle
por: Brunelle, Brian W., et al.
Publicado: (2016)

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP
por: Jansen, Casper, et al.
Publicado: (2009)

Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients
por: Kim, Yong-Chan, et al.
Publicado: (2020)

Identification of the novel polymorphisms and potential genetic features of the prion protein gene (PRNP) in horses, a prion disease-resistant animal
por: Kim, Yong-Chan, et al.
Publicado: (2020)

Knockdown of the bovine prion gene PRNP by RNA interference (RNAi) technology
por: Sutou, Shizuyo, et al.
Publicado: (2007)

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases
por: Bagyinszky, Eva, et al.
Publicado: (2018)

Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease
por: Kai, Hideaki, et al.
Publicado: (2023)

Genetic Diversity in the Prion Protein Gene (PRNP) of Domestic Cattle and Water Buffaloes in Vietnam, Indonesia and Thailand
por: UCHIDA, Leo, et al.
Publicado: (2014)

Novel Polymorphisms and Genetic Features of the Prion Protein Gene (PRNP) in Cats, Hosts of Feline Spongiform Encephalopathy
por: Kim, Hyeon-Ho, et al.
Publicado: (2020)

Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant
por: Margolesky, Jason, et al.
Publicado: (2018)

The first report of polymorphisms of the prion protein gene (PRNP) in Pekin ducks (Anas platyrhynchos domestica)
por: Jeong, Min-Ju, et al.
Publicado: (2023)

Polymorphisms of the prion protein gene (PRNP) in Alaskan moose (Alces alces gigas)
por: Huson, H J, et al.
Publicado: (2006)

Molecular analysis of prion protein gene (PRNP) in Korean patients with Creutzfeldt-Jakob disease.
por: Jeong, B. H., et al.
Publicado: (1998)

The First Report of the Prion Protein Gene (PRNP) Sequence in Pekin Ducks (Anas platyrhynchos domestica): The Potential Prion Disease Susceptibility in Ducks
por: Jeong, Min-Ju, et al.
Publicado: (2021)

Novel Single Nucleotide Polymorphisms (SNPs) and Genetic Features of the Prion Protein Gene (PRNP) in Quail (Coturnix japonica)
por: Kim, Yoonhee, et al.
Publicado: (2022)

Sequence variations of the bovine prion protein gene (PRNP) in native Korean Hanwoo cattle
por: Choi, Sangho, et al.
Publicado: (2012)

Endoplasmic reticulum stress induces PRNP prion protein gene expression in breast cancer
por: Déry, Marc-André, et al.
Publicado: (2013)

Prion Protein PRNP: A New Player in Innate Immunity? The Aβ Connection
por: Lathe, Richard, et al.
Publicado: (2017)

No association of prion protein gene (PRNP) polymorphisms with susceptibility to the pandemic 2009 swine flu
por: Kim, Yong-Chan, et al.
Publicado: (2022)

The 5′ Flanking Region and Intron1 of the Bovine Prion Protein Gene (PRNP) Are Responsible for Negative Feedback Regulation of the Prion Protein
por: Xue, Guangai, et al.
Publicado: (2012)

Absence of Strong Genetic Linkage Disequilibrium between Single Nucleotide Polymorphisms (SNPs) in the Prion Protein Gene (PRNP) and the Prion-Like Protein Gene (PRND) in the Horse, a Prion-Resistant Species
por: Won, Sae-Young, et al.
Publicado: (2020)

Human stem cell–derived astrocytes replicate human prions in a PRNP genotype–dependent manner
por: Krejciova, Zuzana, et al.
Publicado: (2017)

Prion gene (PRNP) haplotype variation in United States goat breeds (Open Access publication)
por: White, Stephen, et al.
Publicado: (2008)

Early-onset Alzheimer’s disease patient with prion (PRNP) p.Val180Ile mutation
por: Bagyinszky, Eva, et al.
Publicado: (2019)

Variation in the prion protein gene (PRNP) sequence of wild deer in Great Britain and mainland Europe
por: Robinson, Amy L., et al.
Publicado: (2019)

Age structuring and spatial heterogeneity in prion protein gene (PRNP) polymorphism in white-tailed deer
por: Chafin, Tyler K., et al.
Publicado: (2020)

Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats
por: Kim, Seon-Kwan, et al.
Publicado: (2019)

Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
por: Ximelis, Teresa, et al.
Publicado: (2021)

Genetic aspects of human prion diseases
por: Appleby, Brian S., et al.
Publicado: (2022)

Chronic wasting disease (CWD) prion detection in blood from pre-symptomatic white-tailed deer harboring PRNP polymorphic variants
por: Kramm, Carlos, et al.
Publicado: (2020)

Estimating sequence diversity of prion protein gene (PRNP) in Portuguese populations of two cervid species: red deer and fallow deer
por: Pereira, Jorge C., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_geqe8ho1n3ts68pkci49s9epq8