Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.T188K
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PRNP

NM_000311.5:p.T188K

Associated Papers

Integrated peripheral metabolic and inflammatory biomarker signatures are associated with clinical deterioration in Creutzfeldt-Jakob disease.

Chen ZY et al.

Neurobiology of Disease, 2026

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

Chen ZY et al.

Cns Neuroscience & Therapeutics, 2026

A review on current theories and potential therapies for prion diseases.

Udayakumar S et al.

Molecular Biology Reports, 2025

Reconfigured metabolism brain network in asymptomatic Creutzfeldt-Jakob disease.

Kong Y et al.

Neurobiology of Disease, 2025

Two Chinese patients of sporadic Creutzfeldt-Jacob disease with a S97N mutation in PRNP gene.

Liang DL et al.

Prion, 2023

Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.

Wu YZ et al.

Neurobiology of Aging, 2023

Clinical profiles and ethnic heterogeneity of sporadic fatal insomnia.

Chen Z et al.

European Journal of Neurology, 2023

Roh SG et al.

Jugan Geon-gang Gwa Jilbyeong, 2023

Prion Mutations in Republic of Republic of Korea, China, and Japan.

Kim DY et al.

International Journal of Molecular Sciences, 2022

Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Shan Y et al.

Prion, 2022

Clinical and prognostic features of Heidenhain variant of Creutzfeldt-Jakob disease: A retrospective case series study.

Yang SL et al.

European Journal of Neurology, 2022

The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.

Won SY et al.

Medicina (kaunas, Lithuania), 2022

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

Chen Z et al.

Alzheimer's Research & Therapy, 2022

Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.

Lin X et al.

Frontiers in Neurology, 2022

Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Shi Q et al.

Bmj Open, 2021

Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.

Shi Q et al.

Neuroscience Bulletin, 2021

Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Baiardi S et al.

Acta Neuropathologica, 2021

Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.

Wu X et al.

Prion, 2020

A seven-residue deletion in PrP leads to generation of a spontaneous prion formed from C-terminal C1 fragment of PrP.

Munoz-Montesino C et al.

The Journal of Biological Chemistry, 2020

Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients.

Xiao K et al.

Pathogens (basel, Switzerland), 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

32549191 (PubMed )
Supplement: ijms-21-04246-s001.pdf

Genetic prion disease: D178N with 129MV disease modifying polymorphism-a clinical phenotype.

Tan TH et al.

Bmj Neurology Open, 2020

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.

Kim YC et al.

Bmc Genomics, 2019

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

Bernardi L et al.

International Journal of Molecular Sciences, 2019

T188K-Familial Creutzfeldt-Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD.

Xiao K et al.

Neuroscience Bulletin, 2019

Accumulation of prion protein in the vagus nerve in creutzfeldt-jakob disease.

Kresl P et al.

Annals of Neurology, 2019

Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.

Villar-Piqué A et al.

Molecular Neurobiology, 2019

Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Rossi M et al.

Viruses, 2019

The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.

Gao LP et al.

Scientific Reports, 2019

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Di Fede G et al.

Acta Neuropathologica Communications, 2019

Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.

Dai Y et al.

Prion, 2019

Crossed cerebellar diaschisis in Creutzfeldt-Jakob disease evaluated through single photon emission computed tomography.

Nishioka K et al.

Journal of the Neurological Sciences, 2018

The clinical features in Chinese patients with PRNP D178N mutation.

Chen S et al.

Acta Neurologica Scandinavica, 2018

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

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

Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of30 Chinese patients.

Shi Q et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis.

Wang X et al.

Experimental and Therapeutic Medicine, 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

Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.

Shi Q et al.

Prion, 2016

Epidemiological characteristics of human prion diseases.

Chen C et al.

Infectious Diseases of Poverty, 2016

Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study.

Chen S et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2015

Effects of the Pathogenic Mutation A117V and the Protective Mutation H111S on the Folding and Aggregation of PrP106-126: Insights from Replica Exchange Molecular Dynamics Simulations.

Ning L et al.

Plos One, 2015

The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

Shi Q et al.

Plos One, 2015

The role of Cys179-Cys214 disulfide bond in the stability and folding of prion protein: insights from molecular dynamics simulations.

Ning L et al.

Journal of Molecular Modeling, 2014

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