Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs1801582

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1801582

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1801582

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Impact of cognition-related single nucleotide polymorphisms on brain imaging phenotype in Parkinson's disease.

Neural Regeneration Research

Shen, Ting T; Pu, Jia-Li JL; Jiang, Ya-Si YS; Yue, Yu-Mei YM; He, Ting-Ting TT; Qu, Bo-Yi BY; Zhao, Shuai S; Yan, Ya-Ping YP; Lai, Hsin-Yi HY; Zhang, Bao-Rong BR

Publication Date: 2023-05

Variant appearance in text: rs1801582

PubMed Link: 36255006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: PARK2: V380L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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MIEAP and ATG5 are tumor suppressors in a mouse model of BRAFV600E-positive thyroid cancer.

Frontiers In Endocrinology

Hamada, Koichiro K; Kurashige, Tomomi T; Shimamura, Mika M; Arakawa, Hirofumi H; Nakamura, Yasuyuki Y; Nagayama, Yuji Y

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 36187114

Variant Present in the following documents:

View BVdb publication page

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Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Cells

Broadway, Benjamin J BJ; Boneski, Paige K PK; Bredenberg, Jenny M JM; Kolicheski, Ana A; Hou, Xu X; Soto-Beasley, Alexandra I AI; Ross, Owen A OA; Springer, Wolfdieter W; Fiesel, Fabienne C FC

Publication Date: 2022-08-05

Variant appearance in text: PRKN: V380L

PubMed Link: 35954270

Variant Present in the following documents:

• Main text
• cells-11-02426.pdf

View BVdb publication page

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Effect Modification between Genes and Environment and Parkinson's Disease Risk.

Annals Of Neurology

Periñán, Maria Teresa MT; Brolin, Kajsa K; Bandres-Ciga, Sara S; Blauwendraat, Cornelis C; Klein, Christine C; Gan-Or, Ziv Z; Singleton, Andrew A; Gomez-Garre, Pilar P; Swanberg, Maria M; Mir, Pablo P; Noyce, Alastair A

Publication Date: 2022-11

Variant appearance in text: PRKN: Val380Leu

PubMed Link: 35913124

Variant Present in the following documents:

• Main text
• ANA-92-715.pdf

View BVdb publication page

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Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.

Frontiers In Aging

Lobon, Irene I; Solís-Moruno, Manuel M; Juan, David D; Muhaisen, Ashraf A; Abascal, Federico F; Esteller-Cucala, Paula P; García-Pérez, Raquel R; Martí, Maria Josep MJ; Tolosa, Eduardo E; Ávila, Jesús J; Rahbari, Raheleh R; Marques-Bonet, Tomas T; Casals, Ferran F; Soriano, Eduardo E

Publication Date: 2022

Variant appearance in text: rs1801582

PubMed Link: 35821807

Variant Present in the following documents:

• DataSheet3.xlsx, sheet 2

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: PARK2: V380L; rs1801582

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Genetic correlation between thyroid hormones and Parkinson's disease.

Clinical And Experimental Immunology

Xu, Jiyi J; Zhao, Cheng C; Liu, Ye Y; Xu, Congjie C; Qin, Bin B; Liang, Hui H

Publication Date: 2022-06-23

Variant appearance in text: N/A

PubMed Link: 35511827

Variant Present in the following documents:

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: PRKN: V380L

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: PRKN: V380L

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12

Variant appearance in text: PRKN: V380L; rs1801582

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12-08

Variant appearance in text: PRKN: V380L; rs1801582

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Prediction of Parkinson's Disease Risk Based on Genetic Profile and Established Risk Factors.

Genes

Chairta, Paraskevi P PP; Hadjisavvas, Andreas A; Georgiou, Andrea N AN; Loizidou, Maria A MA; Yiangou, Kristia K; Demetriou, Christiana A CA; Christou, Yiolanda P YP; Pantziaris, Marios M; Michailidou, Kyriaki K; Zamba-Papanicolaou, Eleni E

Publication Date: 2021-08-20

Variant appearance in text: rs1801582

PubMed Link: 34440451

Variant Present in the following documents:

• Main text
• genes-12-01278.pdf

View BVdb publication page

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Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.

The Indian Journal Of Medical Research

Halder, Tamali T; Verma, Shiv Prakash SP; Raj, Janak J; Pandey, Sharad S; Singh, Ranjeet Kumar RK; Sharma, Vivek V; Joshi, Deepika D; Das, Parimal P

Publication Date: 2020-11

Variant appearance in text: PRKN: V380L; rs1801582

PubMed Link: 33707392

Variant Present in the following documents:

• Main text
• IJMR-152-498.pdf

View BVdb publication page

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Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas.

Endocrine Connections

Brewer, Kelly K; Nip, Isabel I; Bellizzi, Justin J; Costa-Guda, Jessica J; Arnold, Andrew A

Publication Date: 2021-03

Variant appearance in text: PRKN: V380L; rs1801582

PubMed Link: 33617468

Variant Present in the following documents:

• Main text
• EC-21-0055.pdf

View BVdb publication page

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Differences in MTHFR and LRRK2 variant's association with sporadic Parkinson's disease in Mexican Mestizos correlated to Native American ancestry.

Npj Parkinson'S Disease

Romero-Gutiérrez, Elizabeth E; Vázquez-Cárdenas, Paola P; Moreno-Macías, Hortensia H; Salas-Pacheco, José J; Tusié-Luna, Teresa T; Arias-Carrión, Oscar O

Publication Date: 2021-02-11

Variant appearance in text: rs1801582

PubMed Link: 33574311

Variant Present in the following documents:

• Main text
• 41531_2021_Article_157.pdf

View BVdb publication page

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Early-Onset Parkinson Disease Screening in Patients From Nigeria.

Frontiers In Neurology

Milanowski, Lukasz M LM; Oshinaike, Olajumoke O; Broadway, Benjamin J BJ; Lindemann, Jennifer A JA; Soto-Beasley, Alexandra I AI; Walton, Ronald L RL; Hanna Al-Shaikh, Rana R; Strongosky, Audrey J AJ; Fiesel, Fabienne C FC; Ross, Owen A OA; Springer, Wolfdieter W; Ogun, Shamsideen Abayomi SA; Wszolek, Zbigniew K ZK

Publication Date: 2020

Variant appearance in text: PRKN: 1138G>C; V380L; rs1801582

PubMed Link: 33519679

Variant Present in the following documents:

• Main text
• fneur-11-594927.pdf

View BVdb publication page

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A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.

Case Reports In Genetics

Smaili, Imane I; Hajjaj, Imane I; Razine, Rachid R; Tibar, Houyam H; Salmi, Ayyoub A; Bouslam, Naima N; Moussa, Ahmed A; Regragui, Wafa W; Bouhouche, Ahmed A

Publication Date: 2020

Variant appearance in text: rs1801582

PubMed Link: 33343949

Variant Present in the following documents:

• Main text
• CRIG2020-8813344.pdf

View BVdb publication page

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Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.

Molecular Genetics & Genomic Medicine

Ton, Nguyen Dang ND; Thuan, Nguyen Duc ND; Thuong, Ma Thi Huyen MTH; Ngoc, Tran Thi Bich TTB; Nhung, Vu Phuong VP; Hoa, Nguyen Thi Thanh NTT; Nam, Nguyen Hoai NH; Dung, Hoang Thi HT; Son, Nhu Dinh ND; Ba, Nguyen Van NV; Bac, Nguyen Duy ND; Tai, Tran Ngoc TN; Dung, Le Thi Kim LTK; Hung, Nguyen Trong NT; Duong, Nguyen Thuy NT; Ha, Nguyen Hai NH; Hai, Nong Van NV

Publication Date: 2020-10

Variant appearance in text: PRKN: 1138G>C; V380L; rs1801582

PubMed Link: 32856414

Variant Present in the following documents:

• Main text
• MGG3-8-e1463.pdf

View BVdb publication page

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Causative role for defective expression of mitochondria-eating protein in accumulation of mitochondria in thyroid oncocytic cell tumors.

Cancer Science

Mussazhanova, Zhanna Z; Shimamura, Mika M; Kurashige, Tomomi T; Ito, Masahiro M; Nakashima, Masahiro M; Nagayama, Yuji Y

Publication Date: 2020-08

Variant appearance in text: PARK2: V380L

PubMed Link: 32458504

Variant Present in the following documents:

• Main text
• CAS-111-2814.pdf

View BVdb publication page

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Pharmacogenetics of Antipsychotic Drug Treatment: Update and Clinical Implications.

Molecular Neuropsychiatry

Yoshida, Kazunari K; Müller, Daniel J DJ

Publication Date: 2020-04

Variant appearance in text: rs1801582

PubMed Link: 32399466

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reply to Zhang et al.: The differential role of LRRK2 variants in nested leprosy phenotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fava, Vinicius M VM; Cobat, Aurélie A; Gzara, Chaïma C; Alcaïs, Alexandre A; Abel, Laurent L; Schurr, Erwin E

Publication Date: 2020-05-12

Variant appearance in text: N/A

PubMed Link: 32345724

Variant Present in the following documents:

View BVdb publication page

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Is there an antagonistic pleiotropic effect of a LRRK2 mutation on leprosy and Parkinson's disease?

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Deng-Feng DF; Wang, Dong D; Li, Yu-Ye YY; Yao, Yong-Gang YG

Publication Date: 2020-05-12

Variant appearance in text: PRKN: V380L; rs1801582

PubMed Link: 32345713

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: PARK2: 1138G>C

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics

Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S

Publication Date: 2020-02-04

Variant appearance in text: PARK2: 1138G>C

PubMed Link: 32019516

Variant Present in the following documents:

• 12881_2020_953_MOESM8_ESM.xlsx, sheet 1
• 12881_2020_953_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic and Environmental Factors Contributing to Parkinson's Disease: A Case-Control Study in the Cypriot Population.

Frontiers In Neurology

Georgiou, Andrea A; Demetriou, Christiana A CA; Christou, Yiolanda P YP; Heraclides, Alexandros A; Leonidou, Eleni E; Loukaides, Panayiotis P; Yiasoumi, Elena E; Pantziaris, Marios M; Kleopa, Kleopas A KA; Papacostas, Savvas S SS; Loizidou, Maria A MA; Hadjisavvas, Andreas A; Zamba-Papanicolaou, Eleni E

Publication Date: 2019

Variant appearance in text: rs1801582

PubMed Link: 31681140

Variant Present in the following documents:

• Main text
• fneur-10-01047.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PRKN: 1138G>C; Val380Leu; rs1801582

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fava, Vinicius M VM; Xu, Yong Zhong YZ; Lettre, Guillaume G; Van Thuc, Nguyen N; Orlova, Marianna M; Thai, Vu Hong VH; Tao, Shao S; Croteau, Nathalie N; Eldeeb, Mohamed A MA; MacDougall, Emma J EJ; Cambri, Geison G; Lahiri, Ramanuj R; Adams, Linda L; Fon, Edward A EA; Trempe, Jean-François JF; Cobat, Aurélie A; Alcaïs, Alexandre A; Abel, Laurent L; Schurr, Erwin E

Publication Date: 2019-07-30

Variant appearance in text: PRKN: V380L; rs1801582

PubMed Link: 31308240

Variant Present in the following documents:

• Main text
• pnas.1901805116.sapp.pdf

View BVdb publication page

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GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Bmc Bioinformatics

Mossotto, E E; Ashton, J J JJ; O'Gorman, L L; Pengelly, R J RJ; Beattie, R M RM; MacArthur, B D BD; Ennis, S S

Publication Date: 2019-05-16

Variant appearance in text: rs1801582

PubMed Link: 31096927

Variant Present in the following documents:

• Main text
• 12859_2019_Article_2877.pdf

View BVdb publication page

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The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.

Human Molecular Genetics

Yi, Wei W; MacDougall, Emma J EJ; Tang, Matthew Y MY; Krahn, Andrea I AI; Gan-Or, Ziv Z; Trempe, Jean-François JF; Fon, Edward A EA

Publication Date: 2019-09-01

Variant appearance in text: PARK2: V380L

PubMed Link: 30994895

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PRKN: 1138G>C; Val380Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: PARK2: V380L; rs1801582

PubMed Link: 30917570

Variant Present in the following documents:

• Main text
• ijms-20-01514.pdf
• ijms-20-01514-s001.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs1801582

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: PARK2: V380L; rs1801582

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: PARK2: V380L; rs1801582

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.

Parkinson'S Disease

Gambardella, Stefano S; Ferese, Rosangela R; Scala, Simona S; Carboni, Stefania S; Biagioni, Francesca F; Giardina, Emiliano E; Zampatti, Stefania S; Modugno, Nicola N; Fabbiano, Francesco F; Fornai, Francesco F; Centonze, Diego D; Ruggieri, Stefano S

Publication Date: 2018

Variant appearance in text: PRKN: 1138G>C; Val380Leu; rs1801582

PubMed Link: 30034773

Variant Present in the following documents:

• Main text
• PD2018-5651435.pdf

View BVdb publication page

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Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese.

American Journal Of Human Genetics

Wang, Dong D; Fan, Yu Y; Malhi, Mahadev M; Bi, Rui R; Wu, Yong Y; Xu, Min M; Yu, Xiu-Feng XF; Long, Heng H; Li, Yu-Ye YY; Zhang, Deng-Feng DF; Yao, Yong-Gang YG

Publication Date: 2018-05-03

Variant appearance in text: rs1801582

PubMed Link: 29706348

Variant Present in the following documents:

• Main text

View BVdb publication page

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NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database.

Database : The Journal Of Biological Databases And Curation

Yang, Yang Y; Xu, Chen C; Liu, Xingyun X; Xu, Chao C; Zhang, Yuanyuan Y; Shen, Li L; Vihinen, Mauno M; Shen, Bairong B

Publication Date: 2018-01-01

Variant appearance in text: PARK2: Val380Leu

PubMed Link: 29688368

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association study identifies MAPT locus influencing human plasma tau levels.

Neurology

Chen, Jason J; Yu, Jin-Tai JT; Wojta, Kevin K; Wang, Hui-Fu HF; Zetterberg, Henrik H; Blennow, Kaj K; Yokoyama, Jennifer S JS; Weiner, Michael W MW; Kramer, Joel H JH; Rosen, Howard H; Miller, Bruce L BL; Coppola, Giovanni G; Boxer, Adam L AL; ,

Publication Date: 2017-02-14

Variant appearance in text: N/A

PubMed Link: 28100725

Variant Present in the following documents:

View BVdb publication page

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Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.

Scientific Reports

Wang, Dong D; Zhang, Deng-Feng DF; Feng, Jia-Qi JQ; Li, Guo-Dong GD; Li, Xiao-An XA; Yu, Xiu-Feng XF; Long, Heng H; Li, Yu-Ye YY; Yao, Yong-Gang YG

Publication Date: 2016-11-23

Variant appearance in text: rs1801582

PubMed Link: 27876828

Variant Present in the following documents:

• srep37086-s1.pdf

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: PARK2: V380L

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

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Gene Expression Differences in Peripheral Blood of Parkinson's Disease Patients with Distinct Progression Profiles.

Plos One

Pinho, Raquel R; Guedes, Leonor C LC; Soreq, Lilach L; Lobo, Patrícia P PP; Mestre, Tiago T; Coelho, Miguel M; Rosa, Mário M MM; Gonçalves, Nilza N; Wales, Pauline P; Mendes, Tiago T; Gerhardt, Ellen E; Fahlbusch, Christiane C; Bonifati, Vincenzo V; Bonin, Michael M; Miltenberger-Miltényi, Gabriel G; Borovecki, Fran F; Soreq, Hermona H; Ferreira, Joaquim J JJ; F Outeiro, Tiago T

Publication Date: 2016

Variant appearance in text: PARK2: 1138G>C; rs1801582

PubMed Link: 27322389

Variant Present in the following documents:

• pone.0157852.s007.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1801582

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Parkinson's Disease in Saudi Patients: A Genetic Study.

Plos One

Al-Mubarak, Bashayer R BR; Bohlega, Saeed A SA; Alkhairallah, Thamer S TS; Magrashi, Amna I AI; AlTurki, Maha I MI; Khalil, Dania S DS; AlAbdulaziz, Basma S BS; Abou Al-Shaar, Hussam H; Mustafa, Abeer E AE; Alyemni, Eman A EA; Alsaffar, Bashayer A BA; Tahir, Asma I AI; Al Tassan, Nada A NA

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26274610

Variant Present in the following documents:

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