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CRISPR/Cas9-editing of PRNP in Alpine goats.
Vet Res
January 2025
UVSQ, INRAE, BREED, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
Misfolding of the cellular PrP (PrP) protein causes prion disease, leading to neurodegenerative disorders in numerous mammalian species, including goats. A lack of PrP induces complete resistance to prion disease. The aim of this work was to engineer Alpine goats carrying knockout (KO) alleles of PRNP, the PrP-encoding gene, using CRISPR/Cas9-ribonucleoproteins and single-stranded donor oligonucleotides.
View Article and Find Full Text PDFNovel Insertion/Deletion Polymorphisms and Genetic Studies of the Shadow of Prion Protein () in Raccoon Dogs.
Animals (Basel)
December 2024
Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Republic of Korea.
Prion diseases, or transmissible spongiform encephalopathies (TSEs), are a group of invariably fatal neurodegenerative disorders. One of the candidate genes involved in prion diseases is the shadow of the prion protein () gene. Raccoon dogs, a canid, are considered to be a prion disease-resistant species.
View Article and Find Full Text PDFFirst Report of Polymorphisms and Genetic Characteristics of Protein Gene () in Cats.
Animals (Basel)
November 2024
Korea Zoonosis Research Institute, Jeonbuk National University, 820-120 Hana-ro, Iksan 54531, Republic of Korea.
Prion diseases are fatal neurodegenerative disorders caused by the misfolding of the normal cellular prion protein (PrP) into its infectious isoform (PrP). Although prion diseases in humans, sheep, goats, and cattle have been extensively studied, feline spongiform encephalopathy (FSE) remains poorly understood. Genetic factors, particularly polymorphisms in the prion protein gene () and protein gene (), have been linked to prion disease susceptibility in various species.
View Article and Find Full Text PDFMhGeneS: An Analytical Pipeline to Allow for Robust Microhaplotype Genotyping.
Mol Ecol Resour
January 2025
Landscape Science and Technology, Environment and Climate Change Canada, Ottawa, Ontario, Canada.
Article Synopsis
- Microhaplotypes are small linked regions of DNA made up of multiple SNPs, useful in forensics, wildlife monitoring, and genomic studies.
- Quality control is crucial in accurately genotyping these microhaplotypes to avoid errors like false-positive variants caused by sequencing mistakes.
- The MhGeneS pipeline was developed to enhance the validation of microhaplotype genotyping, and its effectiveness was demonstrated in studying genes in caribou, highlighting the importance of specific quality metrics like read depth and sequence trimming.
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
Mol Neurodegener
August 2024
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Article Synopsis
- Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease linked to abnormal tau protein accumulation, and previous studies were limited in exploring rare genetic variants due to the use of genotype arrays.* -
- In this study, whole genome sequencing (WGS) on a large cohort allowed researchers to confirm known genetic loci related to PSP and discover new associations, particularly highlighting a different role for the APOE ε2 allele compared to Alzheimer's disease.* -
- The findings expand knowledge of PSP's genetic underpinnings and identify potential targets for future research into the disease's mechanisms and treatments.*
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