Publications:

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: LRRK2: R1728H

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal

Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR

Publication Date: 2022-09-16

Variant appearance in text: LRRK2: Arg1728His

PubMed Link: 35950872

Variant Present in the following documents:

• Main text
• BCJ-479-1759.pdf
• BCJ-479-1759-s1.pdf

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: LRRK2: R1728H

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: PARK8: R1728H

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: LRRK2: R1728H; rs145364431

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

The Embo Journal

Purlyte, Elena E; Dhekne, Herschel S HS; Sarhan, Adil R AR; Gomez, Rachel R; Lis, Pawel P; Wightman, Melanie M; Martinez, Terina N TN; Tonelli, Francesca F; Pfeffer, Suzanne R SR; Alessi, Dario R DR

Publication Date: 2018-01-04

Variant appearance in text: LRRK2: R1728H

PubMed Link: 29212815

Variant Present in the following documents:

• Main text
• EMBJ-37-1.pdf

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: LRRK2: R1728H

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: LRRK2: R1728H

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Parkinson-Related LRRK2 Mutation R1628P Enables Cdk5 Phosphorylation of LRRK2 and Upregulates Its Kinase Activity.

Plos One

Shu, Yang Y; Ming, Jie J; Zhang, Pei P; Wang, Qingzhi Q; Jiao, Fengjuan F; Tian, Bo B

Publication Date: 2016

Variant appearance in text: LRRK2: R1728H

PubMed Link: 26930193

Variant Present in the following documents:

• Main text
• pone.0149739.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: PARK8: R1728H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LRRK2: R1728H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: LRRK2: R1728H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,

Publication Date: 2011-10

Variant appearance in text: LRRK2: R1728H

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization.

The Biochemical Journal

Dzamko, Nicolas N; Deak, Maria M; Hentati, Faycal F; Reith, Alastair D AD; Prescott, Alan R AR; Alessi, Dario R DR; Nichols, R Jeremy RJ

Publication Date: 2010-09-15

Variant appearance in text: LRRK2: R1728H

PubMed Link: 20659021

Variant Present in the following documents:

• Main text
• bj4300405.pdf

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14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.

The Biochemical Journal

Nichols, R Jeremy RJ; Dzamko, Nicolas N; Morrice, Nicholas A NA; Campbell, David G DG; Deak, Maria M; Ordureau, Alban A; Macartney, Thomas T; Tong, Youren Y; Shen, Jie J; Prescott, Alan R AR; Alessi, Dario R DR

Publication Date: 2010-09-15

Variant appearance in text: LRRK2: R1728H

PubMed Link: 20642453

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.

Human Molecular Genetics

Sancho, Rosa M RM; Law, Bernard M H BM; Harvey, Kirsten K

Publication Date: 2009-10-15

Variant appearance in text: LRRK2: R1728H

PubMed Link: 19625296

Variant Present in the following documents:

• Main text
• ddp337.pdf

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Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics

Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH

Publication Date: 2009-07

Variant appearance in text: LRRK2: R1728H

PubMed Link: 19489756

Variant Present in the following documents:

• Main text

View BVdb publication page

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