Publications:

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Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt-Jakob Disease.

Viruses

Kong, Yu Y; Chen, Zhongyun Z; Zhang, Jing J; Wang, Xue X; Wu, Liyong L

Publication Date: 2023-04-29

Variant appearance in text: CJD: V180I

PubMed Link: 37243178

Variant Present in the following documents:

• Main text
• viruses-15-01092.pdf

View BVdb publication page

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Cerebral cortex swelling in V180I genetic Creutzfeldt-Jakob disease: comparative imaging study between sporadic and V180I genetic Creutzfeldt-Jakob disease in the early stage.

Prion

Muroga, Yuki Y; Sugiyama, Atsuhiko A; Mukai, Hiroki H; Hashiba, Jun J; Yokota, Hajime H; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Wang, Jiaqi J; Ito, Shoichi S; Kuwabara, Satoshi S

Publication Date: 2023-12

Variant appearance in text: CJD: V180I

PubMed Link: 37013454

Variant Present in the following documents:

• Main text
• KPRN_17_2197809.pdf

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: PRNP: 538G>A; Val180Ile; rs74315408

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 9

View BVdb publication page

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Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.

Heliyon

Kai, Hideaki H; Teruya, Kenta K; Takeuchi, Atsuko A; Nakamura, Yoshikazu Y; Mizusawa, Hidehiro H; Yamada, Masahito M; Kitamoto, Tetsuyuki T

Publication Date: 2023-03

Variant appearance in text: CJD: V180I

PubMed Link: 36915552

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: PRNP: V180I; rs74315408

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Neutrophil to High-density Lipoprotein ratio (NHR) as a potential predictor of disease severity and survival time in Creutzfeldt-Jakob disease.

Bmc Neurology

Kong, Yu Y; Chen, Zhongyun Z; Zhang, Jing J; Wu, Liyong L

Publication Date: 2023-01-23

Variant appearance in text: CJD: V180I

PubMed Link: 36690949

Variant Present in the following documents:

• 12883_2023_Article_3076.pdf

View BVdb publication page

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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: PRNP: V180I

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

View BVdb publication page

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Design and application of a customizable relational DataBase to assess clinicopathological correlations and concomitant pathology in neurodegenerative diseases.

Brain Pathology (Zurich, Switzerland)

Journe-Mallet, Isabelle I; Gouju, Julien J; Etcharry-Bouyx, Frédérique F; Chauvire, Valérie V; Guillet-Pichon, Virginie V; Scherer-Gagou, Clarisse C; Prundean, Adriana A; Godard, Sophie S; Lecluse, Aldéric A; Cassereau, Julien J; Verny, Christophe C; Letournel, Franck F; Codron, Philippe P

Publication Date: 2022-12-19

Variant appearance in text: CJD: Val180Ile

PubMed Link: 36536531

Variant Present in the following documents:

• Main text
• BPA-33-e13138.pdf

View BVdb publication page

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Mechanistic Insights into the Neuroprotective Potential of Sacred Ficus Trees.

Nutrients

Shim, Kyu Hwan KH; Sharma, Niti N; An, Seong Soo A SSA

Publication Date: 2022-11-09

Variant appearance in text: PRNP: Val180Ile

PubMed Link: 36432418

Variant Present in the following documents:

• nutrients-14-04731.pdf

View BVdb publication page

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PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2022-11-01

Variant appearance in text: PRNP: Val180Ile

PubMed Link: 36362122

Variant Present in the following documents:

• ijms-23-13331.pdf

View BVdb publication page

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Genetic aspects of human prion diseases.

Frontiers In Neurology

Appleby, Brian S BS; Shetty, Shashirekha S; Elkasaby, Mohamed M

Publication Date: 2022

Variant appearance in text: PRNP: V180I

PubMed Link: 36277922

Variant Present in the following documents:

• Main text
• fneur-13-1003056.pdf

View BVdb publication page

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Creutzfeldt-Jakob Disease Incidence, South Korea, 2001-2019.

Emerging Infectious Diseases

Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2022-09

Variant appearance in text: PRNP: V180I

PubMed Link: 35997603

Variant Present in the following documents:

• Main text
• 21-2050.pdf
• 21-2050-Techapp-s1.pdf

View BVdb publication page

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

Medicina (Kaunas, Lithuania)

Won, Sae-Young SY; Kim, Yong-Chan YC; Lee, Yu-Ni YN; Park, Chan-Gyun CG; Kim, Woo-Young WY; Jeong, Byung-Hoon BH

Publication Date: 2022-07-18

Variant appearance in text: PRNP: V180I

PubMed Link: 35888666

Variant Present in the following documents:

• Main text
• medicina-58-00947.pdf

View BVdb publication page

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

Frontiers In Neurology

Lin, Xue X; Xu, Yichen Y; Zhen, Zhen Z; Xiao, Kang K; Chen, Xu X; Yang, Jigang J; Guan, Hongzhi H; Shi, Qi Q; Dong, Xiaoping X; Wang, Jiawei J; Guo, Yanjun Y

Publication Date: 2022

Variant appearance in text: CJD: V180I

PubMed Link: 35812092

Variant Present in the following documents:

• Main text
• fneur-13-888309.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: PRNP: 538G>A; V180I; rs74315408

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage.

Cureus

Suzuki, Yutaro Y; Sugiyama, Atsuhiko A; Muto, Mayumi M; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Kuwabara, Satoshi S

Publication Date: 2022-03

Variant appearance in text: CJD: v180i

PubMed Link: 35475058

Variant Present in the following documents:

• Main text
• cureus-0014-00000023374.pdf

View BVdb publication page

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Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review.

Medicina (Kaunas, Lithuania)

Altuna, Miren M; Ruiz, Iñigo I; Zelaya, María Victoria MV; Mendioroz, Maite M

Publication Date: 2022-03-25

Variant appearance in text: PRNP: 538G>A

PubMed Link: 35454316

Variant Present in the following documents:

• medicina-58-00473.pdf

View BVdb publication page

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Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Brain : A Journal Of Neurology

Schmitz, Matthias M; Villar-Piqué, Anna A; Hermann, Peter P; Escaramís, Geòrgia G; Calero, Miguel M; Chen, Cao C; Kruse, Niels N; Cramm, Maria M; Golanska, Ewa E; Sikorska, Beata B; Liberski, Pawel P PP; Pocchiari, Maurizio M; Lange, Peter P; Stehmann, Christiane C; Sarros, Shannon S; Martí, Eulàlia E; Baldeiras, Inês I; Santana, Isabel I; Žáková, Dana D; Mitrová, Eva E; Dong, Xiao-Ping XP; Collins, Steven S; Poleggi, Anna A; Ladogana, Anna A; Mollenhauer, Brit B; Kovacs, Gabor G GG; Geschwind, Michael D MD; Sánchez-Valle, Raquel R; Zerr, Inga I; Llorens, Franc F

Publication Date: 2022-04-18

Variant appearance in text: CJD: V180I

PubMed Link: 35288744

Variant Present in the following documents:

• Main text
• awab350.pdf

View BVdb publication page

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Survival Patterns of Human Prion Diseases in Spain, 1998-2018: Clinical Phenotypes and Etiological Clues.

Frontiers In Neuroscience

Tejedor-Romero, Laura L; López-Cuadrado, Teresa T; Almazán-Isla, Javier J; Calero, Miguel M; García López, Fernando J FJ; de Pedro-Cuesta, Jesús J

Publication Date: 2021

Variant appearance in text: CJD: V180I

PubMed Link: 35126037

Variant Present in the following documents:

• Main text
• fnins-15-773727.pdf

View BVdb publication page

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A case of V180I genetic mutation Creutzfeldt Jakob disease (CJD) with delusional misidentification as an initial symptom.

Prion

Nagata, Tomoyuki T; Shinagawa, Shunichiro S; Kobayashi, Nobuyuki N; Kondo, Kazuhiro K; Shigeta, Masahiro M

Publication Date: 2022-12

Variant appearance in text: PRNP: Val180Ile

PubMed Link: 34965177

Variant Present in the following documents:

• Main text
• KPRN_16_2017701.pdf

View BVdb publication page

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Endosomal sorting drives the formation of axonal prion protein endoggresomes.

Science Advances

Chassefeyre, Romain R; Chaiamarit, Tai T; Verhelle, Adriaan A; Novak, Sammy Weiser SW; Andrade, Leonardo R LR; Leitão, André D G ADG; Manor, Uri U; Encalada, Sandra E SE

Publication Date: 2021-12-24

Variant appearance in text: PRNP: V180I

PubMed Link: 34936461

Variant Present in the following documents:

• sciadv.abg3693.pdf

View BVdb publication page

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Endosomal sorting drives the formation of axonal prion protein endoggresomes.

Science Advances

Chassefeyre, Romain R; Chaiamarit, Tai T; Verhelle, Adriaan A; Novak, Sammy Weiser SW; Andrade, Leonardo R LR; Leitão, André D G ADG; Manor, Uri U; Encalada, Sandra E SE

Publication Date: 2021-12-24

Variant appearance in text: PRNP: V180I

PubMed Link: 34936461

Variant Present in the following documents:

• sciadv.abg3693.pdf

View BVdb publication page

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The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease.

Cells

Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2021-11-11

Variant appearance in text: CJD: V180I

PubMed Link: 34831353

Variant Present in the following documents:

• Main text
• cells-10-03132.pdf

View BVdb publication page

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Case Report: Extremely Early Detection of Preclinical Magnetic Resonance Imaging Abnormality in Creutzfeldt-Jakob Disease With the V180I Mutation.

Frontiers In Neurology

Koizumi, Ryuichi R; Ueda, Naohisa N; Mugita, Atsushi A; Kimura, Katsuo K; Kishida, Hitaru H; Tanaka, Fumiaki F

Publication Date: 2021

Variant appearance in text: CJD: V180I

PubMed Link: 34690919

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.

Diagnostics (Basel, Switzerland)

Jankovska, Nikol N; Rusina, Robert R; Bruzova, Magdalena M; Parobkova, Eva E; Olejar, Tomas T; Matej, Radoslav R

Publication Date: 2021-10-01

Variant appearance in text: CJD: V180I

PubMed Link: 34679519

Variant Present in the following documents:

• Main text
• diagnostics-11-01821.pdf

View BVdb publication page

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Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report.

International Journal Of Environmental Research And Public Health

Nakane, Ayako A; Hasegawa, Shohei S; Ishii, Miki M; Tamai, Tomoe T; Moritoyo, Rieko R; Saito, Mitsuko M; Ando, Mariko M; Tohara, Haruka H

Publication Date: 2021-09-15

Variant appearance in text: PRNP: V180I

PubMed Link: 34574659

Variant Present in the following documents:

• ijerph-18-09734.pdf

View BVdb publication page

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Genetic prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM.

Science Advances

Wang, Li-Qiang LQ; Zhao, Kun K; Yuan, Han-Ye HY; Li, Xiang-Ning XN; Dang, Hai-Bin HB; Ma, Yeyang Y; Wang, Qiang Q; Wang, Chen C; Sun, Yunpeng Y; Chen, Jie J; Li, Dan D; Zhang, Delin D; Yin, Ping P; Liu, Cong C; Liang, Yi Y

Publication Date: 2021-09-10

Variant appearance in text: CJD: V180I

PubMed Link: 34516876

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: PRNP: V180I

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The Influence of Nutrition in Alzheimer's Disease: Neuroinflammation and the Microbiome vs. Transmissible Prion.

Frontiers In Neuroscience

Bello-Corral, Laura L; Sánchez-Valdeón, Leticia L; Casado-Verdejo, Inés I; Seco-Calvo, Jesús Ángel JÁ; Antonio Fernández-Fernández, Jesús J; Nélida Fernández-Martínez, María M

Publication Date: 2021

Variant appearance in text: CJD: V180I

PubMed Link: 34489620

Variant Present in the following documents:

• fnins-15-677777.pdf

View BVdb publication page

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Viral and Prion Infections Associated with Central Nervous System Syndromes in Brazil.

Viruses

Sousa, Ivanildo P IP; Dos Santos, Flavia B FB; de Paula, Vanessa S VS; Vieira, Tuane C R G TCRG; Dias, Helver G HG; Barros, Caroline A CA; da Silva, Edson E EE

Publication Date: 2021-07-15

Variant appearance in text: CJD: V180I

PubMed Link: 34372576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Parkinson's Disease: A Prionopathy?

International Journal Of Molecular Sciences

Vascellari, Sarah S; Manzin, Aldo A

Publication Date: 2021-07-27

Variant appearance in text: CJD: V180I

PubMed Link: 34360787

Variant Present in the following documents:

• Main text
• ijms-22-08022.pdf

View BVdb publication page

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Long-term preservation of pharyngeal swallowing function in MM2-cortical-type sporadic Creutzfeldt-Jakob disease.

Prion

Hayashi, Yuichi Y; Kunieda, Kenjiro K; Kudo, Takuya T; Kimura, Akio A; Fujishima, Ichiro I; Shimohata, Takayoshi T

Publication Date: 2021-12

Variant appearance in text: PRNP: V180I

PubMed Link: 34078217

Variant Present in the following documents:

• Main text

View BVdb publication page

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Decrease in Skin Prion-Seeding Activity of Prion-Infected Mice Treated with a Compound Against Human and Animal Prions: a First Possible Biomarker for Prion Therapeutics.

Molecular Neurobiology

Ding, Mingxuan M; Teruya, Kenta K; Zhang, Weiguanliu W; Lee, Hae Weon HW; Yuan, Jue J; Oguma, Ayumi A; Foutz, Aaron A; Camacho, Manuel V MV; Mitchell, Marcus M; Greenlee, Justin J JJ; Kong, Qingzhong Q; Doh-Ura, Katsumi K; Cui, Li L; Zou, Wen-Quan WQ

Publication Date: 2021-09

Variant appearance in text: CJD: V180I

PubMed Link: 33983547

Variant Present in the following documents:

• Main text

View BVdb publication page

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The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.

Nature Reviews. Neurology

Watson, Neil N; Brandel, Jean-Philippe JP; Green, Alison A; Hermann, Peter P; Ladogana, Anna A; Lindsay, Terri T; Mackenzie, Janet J; Pocchiari, Maurizio M; Smith, Colin C; Zerr, Inga I; Pal, Suvankar S

Publication Date: 2021-06

Variant appearance in text: PRNP: V180I

PubMed Link: 33972773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Further Characterization of Glycoform-Selective Prions of Variably Protease-Sensitive Prionopathy.

Pathogens (Basel, Switzerland)

Zhang, Weiguanliu W; Xiao, Xiangzhu X; Ding, Mingxuan M; Yuan, Jue J; Foutz, Aaron A; Moudjou, Mohammed M; Kitamoto, Tetsuyuki T; Langeveld, Jan P M JPM; Cui, Li L; Zou, Wen-Quan WQ

Publication Date: 2021-04-23

Variant appearance in text: CJD: V180I

PubMed Link: 33922765

Variant Present in the following documents:

• Main text

View BVdb publication page

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Utilising Induced Pluripotent Stem Cells in Neurodegenerative Disease Research: Focus on Glia.

International Journal Of Molecular Sciences

Albert, Katrina K; Niskanen, Jonna J; Kälvälä, Sara S; Lehtonen, Šárka Š

Publication Date: 2021-04-21

Variant appearance in text: PRNP: V180I

PubMed Link: 33919317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Creutzfeldt-Jakob and Vascular Brain Diseases: Their Overlap and Relationships.

Frontiers In Neurology

Balash, Yacov Y; Korczyn, Amos D AD; Khmelev, Nadejda N; Eilam, Anda A; Adi, Meital M; Gilad, Ronit R

Publication Date: 2021

Variant appearance in text: CJD: V180I

PubMed Link: 33732205

Variant Present in the following documents:

• Main text
• fneur-12-613991.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: PRNP: V180I

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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V180I genetic Creutzfeldt-Jakob disease with cardiac sympathetic nerve denervation masquerading as Parkinson's disease: A case report.

Medicine

Fujita, Hiroaki H; Ogaki, Keitaro K; Shiina, Tomohiko T; Onuma, Hiroki H; Sakuramoto, Hirotaka H; Satoh, Katsuya K; Suzuki, Keisuke K

Publication Date: 2021-01-15

Variant appearance in text: CJD: V180I

PubMed Link: 33466217

Variant Present in the following documents:

• Main text
• medi-100-e24294.pdf

View BVdb publication page

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The Cellular Prion Protein: A Promising Therapeutic Target for Cancer.

International Journal Of Molecular Sciences

Go, Gyeongyun G; Lee, Sang Hun SH

Publication Date: 2020-12-02

Variant appearance in text: PRNP: V180I

PubMed Link: 33276687

Variant Present in the following documents:

• Main text
• ijms-21-09208.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PRNP: 538G>A; V180I

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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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: V180I

PubMed Link: 33116901

Variant Present in the following documents:

• clep-12-1073.pdf

View BVdb publication page

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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: V180I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A patient with spastic paralysis finally diagnosed as V180I genetic Creutzfeldt-Jakob disease 9 years after onset.

Prion

Nomura, Taichi T; Iwata, Ikuko I; Naganuma, Ryoji R; Matsushima, Masaaki M; Satoh, Katsuya K; Kitamoto, Tetsuyuki T; Yabe, Ichiro I

Publication Date: 2020-12

Variant appearance in text: CJD: V180i

PubMed Link: 32938301

Variant Present in the following documents:

• Main text
• KPRN_14_1823179.pdf

View BVdb publication page

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Serial evaluation of swallowing function in a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.

Prion

Kunieda, Kenjiro K; Hayashi, Yuichi Y; Yamada, Megumi M; Waza, Masahiro M; Yaguchi, Tomonori T; Fujishima, Ichiro I; Shimohata, Takayoshi T

Publication Date: 2020-12

Variant appearance in text: CJD: V180I

PubMed Link: 32627665

Variant Present in the following documents:

• Main text

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PRNP: V180I

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: CJD: V180I

PubMed Link: 32560489

Variant Present in the following documents:

• Main text

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

International Journal Of Molecular Sciences

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

Publication Date: 2020-06-15

Variant appearance in text: PRNP: V180I

PubMed Link: 32549191

Variant Present in the following documents:

• Main text

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

Prion

Wu, Xiping X; Cui, Zhao Z; Guomin, Xie X; Wang, Haifeng H; Zhang, Xiaoling X; Li, Zhiguang Z; Sun, Qi Q; Qi, Feiteng F

Publication Date: 2020-12

Variant appearance in text: CJD: V180I

PubMed Link: 32501129

Variant Present in the following documents:

• Main text
• KPRN_14_1769528.pdf

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