Publications:

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

International Journal Of Molecular Sciences

Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-12-30

Variant appearance in text: CJD: R148H

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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Characteristics of Different Types of Prion Diseases - China's Surveillance.

China Cdc Weekly

Shi, Qi Q; Chen, Cao C; Xiao, Kang K; Zhou, Wei W; Gao, Chen C; Gao, Liping L; Han, Jun J; Wang, Jichun J; Dong, Xiaoping X

Publication Date: 2022-08-19

Variant appearance in text: PRNP: R148H

PubMed Link: 36285115

Variant Present in the following documents:

• Main text
• ccdcw-4-33-723.pdf

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

Rsc Advances

Jani, Vinod V; Sonavane, Uddhavesh U; Joshi, Rajendra R

Publication Date: 2019-05-07

Variant appearance in text: CJD: R148H

PubMed Link: 35519320

Variant Present in the following documents:

• Main text
• RA-009-C9RA01507H.pdf

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

Acta Neuropathologica

Baiardi, Simone S; Rossi, Marcello M; Mammana, Angela A; Appleby, Brian S BS; Barria, Marcelo A MA; Calì, Ignazio I; Gambetti, Pierluigi P; Gelpi, Ellen E; Giese, Armin A; Ghetti, Bernardino B; Herms, Jochen J; Ladogana, Anna A; Mikol, Jacqueline J; Pal, Suvankar S; Ritchie, Diane L DL; Ruf, Viktoria V; Windl, Otto O; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2021-10

Variant appearance in text: CJD: R148H

PubMed Link: 34324063

Variant Present in the following documents:

• Main text
• 401_2021_Article_2350.pdf
• 401_2021_2350_MOESM1_ESM.pdf

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Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.

Clinical Epidemiology

Sun, Yu Y; Liu, Chih-Ching CC; Fan, Ling-Yun LY; Huang, Chung-Te CT; Chen, Ta-Fu TF; Lu, Chien-Jung CJ; Guo, Wan-Yuo WY; Chang, Yang-Chyuan YC; Chiu, Ming-Jang MJ

Publication Date: 2020

Variant appearance in text: CJD: R148H

PubMed Link: 33116901

Variant Present in the following documents:

• Main text
• clep-12-1073.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: PRNP: R148H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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

Cells

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2020-06-17

Variant appearance in text: PRNP: R148H

PubMed Link: 32560489

Variant Present in the following documents:

• Main text
• cells-09-01480.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PRNP: 443G>A; Arg148His; rs181348299

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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.

Bmc Genomics

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2019-12-03

Variant appearance in text: PRNP: R148H

PubMed Link: 31795947

Variant Present in the following documents:

• Main text
• 12864_2019_Article_6315.pdf

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

Viruses

Rossi, Marcello M; Baiardi, Simone S; Parchi, Piero P

Publication Date: 2019-03-29

Variant appearance in text: CJD: R148H

PubMed Link: 30934971

Variant Present in the following documents:

• Main text
• viruses-11-00309.pdf

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Genetic PrP Prion Diseases.

Cold Spring Harbor Perspectives In Biology

Kim, Mee-Ohk MO; Takada, Leonel T LT; Wong, Katherine K; Forner, Sven A SA; Geschwind, Michael D MD

Publication Date: 2018-05-01

Variant appearance in text: CJD: R148H

PubMed Link: 28778873

Variant Present in the following documents:

• Main text

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

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD

Publication Date: 2017-01

Variant appearance in text: PRNP: R148H

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Quantifying prion disease penetrance using large population control cohorts.

Science Translational Medicine

Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Lek, Monkol M; Estrada, Karol K; Samocha, Kaitlin E KE; Sathirapongsasuti, J Fah JF; McLean, Cory Y CY; Tung, Joyce Y JY; Yu, Linda P C LP; Gambetti, Pierluigi P; Blevins, Janis J; Zhang, Shulin S; Cohen, Yvonne Y; Chen, Wei W; Yamada, Masahito M; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Mizusawa, Hidehiro H; Nakamura, Yosikazu Y; Kitamoto, Tetsuyuki T; Collins, Steven J SJ; Boyd, Alison A; Will, Robert G RG; Knight, Richard R; Ponto, Claudia C; Zerr, Inga I; Kraus, Theo F J TF; Eigenbrod, Sabina S; Giese, Armin A; Calero, Miguel M; de Pedro-Cuesta, Jesús J; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Bouaziz-Amar, Elodie E; Brandel, Jean-Philippe JP; Capellari, Sabina S; Parchi, Piero P; Poleggi, Anna A; Ladogana, Anna A; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Marshall, Jamie L JL; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL; Kähler, Anna A; Chambert, Kimberly K; McCarroll, Steven S; Sullivan, Patrick F PF; Hultman, Christina M CM; Purcell, Shaun M SM; Sklar, Pamela P; van der Lee, Sven J SJ; Rozemuller, Annemieke A; Jansen, Casper C; Hofman, Albert A; Kraaij, Robert R; van Rooij, Jeroen G J JG; Ikram, M Arfan MA; Uitterlinden, André G AG; van Duijn, Cornelia M CM; , ; Daly, Mark J MJ; MacArthur, Daniel G DG

Publication Date: 2016-01-20

Variant appearance in text: PRNP: R148H

PubMed Link: 26791950

Variant Present in the following documents:

• Main text

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

Plos One

Shi, Qi Q; Zhou, Wei W; Chen, Cao C; Zhang, Bao-Yun BY; Xiao, Kang K; Zhang, Xiu-Chun XC; Shen, Xiao-Jing XJ; Li, Qing Q; Deng, Li-Quan LQ; Dong, Jian-Hua JH; Lin, Wen-Qing WQ; Huang, Pu P; Jiang, Wei-Jia WJ; Lv, Jie J; Han, Jun J; Dong, Xiao-Ping XP

Publication Date: 2015

Variant appearance in text: CJD: R148H

PubMed Link: 26488179

Variant Present in the following documents:

• Main text
• pone.0139552.pdf

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Small-molecule theranostic probes: a promising future in neurodegenerative diseases.

International Journal Of Cell Biology

Aulić, Suzana S; Bolognesi, Maria Laura ML; Legname, Giuseppe G

Publication Date: 2013

Variant appearance in text: CJD: R148H

PubMed Link: 24324497

Variant Present in the following documents:

• IJCB2013-150952.pdf

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

Molecules (Basel, Switzerland)

Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G

Publication Date: 2013-08-07

Variant appearance in text: PRNP: R148H

PubMed Link: 23966072

Variant Present in the following documents:

• molecules-18-09451.pdf

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Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Bioinformatics And Biology Insights

Kedarisetti, Kanaka Durga KD; Dick, Scott S; Kurgan, Lukasz L

Publication Date: 2008-03-12

Variant appearance in text: CJD: R148H

PubMed Link: 19812771

Variant Present in the following documents:

• bbi-2008-133.pdf

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The consequences of pathogenic mutations to the human prion protein.

Protein Engineering, Design & Selection : Peds

van der Kamp, Marc W MW; Daggett, Valerie V

Publication Date: 2009-08

Variant appearance in text: CJD: R148H

PubMed Link: 19602567

Variant Present in the following documents:

• Main text

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Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.

Journal Of Neurology

Ladogana, Anna A; Sanchez-Juan, Pascual P; Mitrová, Eva E; Green, Alison A; Cuadrado-Corrales, Natividad N; Sánchez-Valle, Raquel R; Koscova, Silvia S; Aguzzi, Adriano A; Sklaviadis, Theodoros T; Kulczycki, Jerzy J; Gawinecka, Joanna J; Saiz, Albert A; Calero, Miguel M; van Duijn, Cornelia M CM; Pocchiari, Maurizio M; Knight, Richard R; Zerr, Inga I

Publication Date: 2009-10

Variant appearance in text: CJD: R148H

PubMed Link: 19444528

Variant Present in the following documents:

• Main text

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Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.

The American Journal Of Pathology

Pastore, Manuela M; Chin, Steven S SS; Bell, Karen L KL; Dong, Zhiqian Z; Yang, Qiwei Q; Yang, Lizhu L; Yuan, Jue J; Chen, Shu G SG; Gambetti, Pierluigi P; Zou, Wen-Quan WQ

Publication Date: 2005-12

Variant appearance in text: CJD: R148H

PubMed Link: 16314483

Variant Present in the following documents:

• Main text

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