Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.T193I
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PRNP

NM_000311.5:p.T193I

Associated Papers

Peripheral Signatures of Multidimensional Pathology in Symptomatic and Asymptomatic Creutzfeldt-Jakob Disease.

Chen ZY et al.

Cns Neuroscience & Therapeutics, 2026

Scrapie-associated polymorphisms of the prion protein gene (PRNP) in Nigerian native goats.

Adeola AC et al.

Gene, 2023

Novel Variations in Native Ethiopian Goat breeds PRNP Gene and Their Potential Effect on Prion Protein Stability.

Teferedegn EY et al.

Scientific Reports, 2020

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.

Jani V et al.

Rsc Advances, 2019

Two novel amino acid substitutions in highly conserved regions of prion protein (PrP) and a high frequency of a scrapie protective variant in native Ethiopian goats.

Vitale M et al.

Bmc Veterinary Research, 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

Genetic Creutzfeldt-Jakob disease.

Ladogana A et al.

Handbook of Clinical Neurology, 2018

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

Use of molecular dynamics simulation to explore structural facets of human prion protein with pathogenic mutations.

Borgohain G et al.

Biophysical Chemistry, 2016

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

The landscape of the prion protein's structural response to mutation revealed by principal component analysis of multiple NMR ensembles.

Gendoo DM et al.

Plos Computational Biology, 2012

Common structural traits across pathogenic mutants of the human prion protein and their implications for familial prion diseases.

Rossetti G et al.

Journal of Molecular Biology, 2011

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

The consequences of pathogenic mutations to the human prion protein.

van der Kamp MW et al.

Protein Engineering, Design & Selection : Peds, 2009

Novel mutation of the PRNP gene of a clinical CJD case.

Kotta K et al.

Bmc Infectious Diseases, 2006

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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."