Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.D167N
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PRNP

NM_000311.5:p.D167N

Associated Papers

Cellular Prion Protein Conformational Shift after Liquid-Liquid Phase Separation Regulated by a Polymeric Antagonist and Mutations.

Liu Y et al.

Journal of the American Chemical Society, 2024

Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

Chen Z et al.

Alzheimer's Research & Therapy, 2022

Structural effects of the highly protective V127 polymorphism on human prion protein.

Hosszu LLP et al.

Communications Biology, 2020

Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Kim YC et al.

Cells, 2020

First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.

Won SY et al.

International Journal of Molecular Sciences, 2020

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Bagyinszky E et al.

Neuropsychiatric Disease and Treatment, 2018

Experimental Models of Inherited PrP Prion Diseases.

Watts JC et al.

Cold Spring Harbor Perspectives in Medicine, 2017

A novel prion protein variant in a patient with semantic dementia.

Kenny J et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Takada LT et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

Methods for Molecular Diagnosis of Human Prion Disease.

Wadsworth JDF et al.

Methods in Molecular Biology (clifton, N.j.), 2017

Inherited mtDNA variations are not strong risk factors in human prion disease.

Hudson G et al.

Neurobiology of Aging, 2015

A novel prion disease associated with diarrhea and autonomic neuropathy.

Mead S et al.

The New England Journal of Medicine, 2013

Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Giachin G et al.

Molecules (basel, Switzerland), 2013

Genetics of prion diseases.

Lloyd SE et al.

Current Opinion in Genetics & Development, 2013

Mutation directional selection sheds light on prion pathogenesis.

Shen L et al.

Biochemical and Biophysical Research Communications, 2011

Genetics of prion disease.

Lloyd S et al.

Topics in Current Chemistry, 2011

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.

Beck JA et al.

Human Mutation, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."