Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: LRRK2: 4541G>A; R1514Q

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

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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: Arg1514Gln

PubMed Link: 35950872

Variant Present in the following documents:

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

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Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.

Frontiers In Neuroscience

Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Kanovsky, Petr P

Publication Date: 2022

Variant appearance in text: LRRK2: 4541G>A; R1514Q; rs35507033

PubMed Link: 35368288

Variant Present in the following documents:

• Main text
• fnins-16-817713.pdf

View BVdb publication page

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Axial Impairment Following Deep Brain Stimulation in Parkinson's Disease: A Surgicogenomic Approach.

Journal Of Parkinson'S Disease

Visanji, Naomi P NP; Ghani, Mahdi M; Yu, Eric E; Kakhki, Erfan Ghani EG; Sato, Christine C; Moreno, Danielle D; Naranian, Taline T; Poon, Yu-Yan YY; Abdollahi, Maryam M; Naghibzadeh, Maryam M; Rajalingam, Rajasumi R; Lozano, Andres M AM; Kalia, Suneil K SK; Hodaie, Mojgan M; Cohn, Melanie M; Statucka, Marta M; Boutet, Alexandre A; Elias, Gavin J B GJB; Germann, Jürgen J; Munhoz, Renato R; Lang, Anthony E AE; Gan-Or, Ziv Z; Rogaeva, Ekaterina E; Fasano, Alfonso A

Publication Date: 2022

Variant appearance in text: rs35507033

PubMed Link: 34602499

Variant Present in the following documents:

• Main text
• jpd-12-jpd212730.pdf

View BVdb publication page

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Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

Movement Disorders : Official Journal Of The Movement Disorder Society

Lake, Julie J; Reed, Xylena X; Langston, Rebekah G RG; Nalls, Mike A MA; Gan-Or, Ziv Z; Cookson, Mark R MR; Singleton, Andrew B AB; Blauwendraat, Cornelis C; Leonard, Hampton L HL; ,

Publication Date: 2022-01

Variant appearance in text: LRRK2: R1514Q; rs35507033

PubMed Link: 34542912

Variant Present in the following documents:

• Main text
• MDS-37-95-s003.xlsx, sheet 1
• MDS-37-95-s003.xlsx, sheet 5
• MDS-37-95-s003.xlsx, sheet 8
• MDS-37-95-s003.xlsx, sheet 7
• MDS-37-95-s003.xlsx, sheet 6
• MDS-37-95-s003.xlsx, sheet 4
• MDS-37-95.pdf
• MDS-37-95-s003.xlsx, sheet 9

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 60

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: R1514Q

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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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: LRRK2: R1514Q; rs35507033

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Medicine

Bartoníková, Tereza T; Menšíková, Kateřina K; Kolaříková, Kristýna K; Vodička, Radek R; Vrtěl, Radek R; Otruba, Pavel P; Kaiserová, Michaela M; Vaštík, Miroslav M; Mikulicová, Lenka L; Ovečka, Josef J; Šáchová, Ludmila L; Dvorský, František F; Krša, Jiří J; Jugas, Petr P; Godava, Marek M; Bareš, Martin M; Janout, Vladimír V; Hluštík, Petr P; Procházka, Martin M; Kaňovský, Petr P

Publication Date: 2018-09

Variant appearance in text: PARK8: 4541G>A; rs35507033

PubMed Link: 30235682

Variant Present in the following documents:

• Main text
• medi-97-e12313.pdf

View BVdb publication page

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Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer

Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA

Publication Date: 2017-07-06

Variant appearance in text: LRRK2: R1514Q; rs35507033

PubMed Link: 28683746

Variant Present in the following documents:

• 12943_2017_691_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Activation of FADD-Dependent Neuronal Death Pathways as a Predictor of Pathogenicity for LRRK2 Mutations.

Plos One

Melachroinou, Katerina K; Leandrou, Emmanouela E; Valkimadi, Polytimi-Eleni PE; Memou, Anna A; Hadjigeorgiou, Georgios G; Stefanis, Leonidas L; Rideout, Hardy J HJ

Publication Date: 2016

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 27832104

Variant Present in the following documents:

• Main text
• pone.0166053.pdf

View BVdb publication page

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Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Movement Disorders : Official Journal Of The Movement Disorder Society

Sanchez-Contreras, Monica M; Heckman, Michael G MG; Tacik, Pawel P; Diehl, Nancy N; Brown, Patricia H PH; Soto-Ortolaza, Alexandra I AI; Christopher, Elizabeth A EA; Walton, Ronald L RL; Ross, Owen A OA; Golbe, Lawrence I LI; Graff-Radford, Neill N; Wszolek, Zbigniew K ZK; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2017-01

Variant appearance in text: LRRK2: R1514Q; rs35507033

PubMed Link: 27709685

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 variation and dementia with Lewy bodies.

Parkinsonism & Related Disorders

Heckman, Michael G MG; Soto-Ortolaza, Alexandra I AI; Contreras, Monica Y Sanchez MYS; Murray, Melissa E ME; Pedraza, Otto O; Diehl, Nancy N NN; Walton, Ronald R; Labbé, Catherine C; Lorenzo-Betancor, Oswaldo O; Uitti, Ryan J RJ; van Gerpen, Jay J; Ertekin-Taner, Nilüfer N; Smith, Glenn E GE; Kantarci, Kejal K; Savica, Rodolfo R; Jones, David T DT; Graff-Radford, Jonathan J; Knopman, David S DS; Lowe, Val J VJ; Jack, Clifford R CR; Petersen, Ronald C RC; Parisi, Joseph E JE; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; Graff-Radford, Neill R NR; Ferman, Tanis J TJ; Dickson, Dennis W DW; Boeve, Bradley F BF; Ross, Owen A OA

Publication Date: 2016-10

Variant appearance in text: LRRK2: R1514Q; rs35507033

PubMed Link: 27521182

Variant Present in the following documents:

• Main text

View BVdb publication page

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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Molecular Neurodegeneration

Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C

Publication Date: 2016-04-19

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 27094865

Variant Present in the following documents:

• Main text
• 13024_2016_Article_97.pdf

View BVdb publication page

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Phenotypic and molecular analyses of primary lateral sclerosis.

Neurology. Genetics

Mitsumoto, Hiroshi H; Nagy, Peter L PL; Gennings, Chris C; Murphy, Jennifer J; Andrews, Howard H; Goetz, Raymond R; Floeter, Mary Kay MK; Hupf, Jonathan J; Singleton, Jessica J; Barohn, Richard J RJ; Nations, Sharon S; Shoesmith, Christen C; Kasarskis, Edward E; Factor-Litvak, Pam P

Publication Date: 2015-06

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 27066542

Variant Present in the following documents:

• Main text
• NNG-D-15-00003.pdf

View BVdb publication page

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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: R1514Q; rs35507033

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Association between Parkinson's disease and G2019S and R1441C mutations of the LRRK2 gene.

Experimental And Therapeutic Medicine

Li, Xiao-Xia XX; Liao, Qin Q; Xia, Huan H; Yang, Xin-Ling XL

Publication Date: 2015-10

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 26622505

Variant Present in the following documents:

• Main text

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: R1514Q

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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Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

Neurobiology Of Aging

Ghani, Mahdi M; Lang, Anthony E AE; Zinman, Lorne L; Nacmias, Benedetta B; Sorbi, Sandro S; Bessi, Valentina V; Tedde, Andrea A; Tartaglia, Maria Carmela MC; Surace, Ezequiel I EI; Sato, Christine C; Moreno, Danielle D; Xi, Zhengrui Z; Hung, Rachel R; Nalls, Mike A MA; Singleton, Andrew A; St George-Hyslop, Peter P; Rogaeva, Ekaterina E

Publication Date: 2015-01

Variant appearance in text: LRRK2: R1514Q; rs35507033

PubMed Link: 25174650

Variant Present in the following documents:

• Main text

View BVdb publication page

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A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.

The Journal Of Biological Chemistry

Law, Bernard M H BM; Spain, Victoria A VA; Leinster, Veronica H L VH; Chia, Ruth R; Beilina, Alexandra A; Cho, Hyun J HJ; Taymans, Jean-Marc JM; Urban, Mary K MK; Sancho, Rosa M RM; Blanca Ramírez, Marian M; Biskup, Saskia S; Baekelandt, Veerle V; Cai, Huaibin H; Cookson, Mark R MR; Berwick, Daniel C DC; Harvey, Kirsten K

Publication Date: 2014-01-10

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 24275654

Variant Present in the following documents:

• Main text
• zbc895.pdf

View BVdb publication page

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Small molecule kinase inhibitors for LRRK2 and their application to Parkinson's disease models.

Acs Chemical Neuroscience

Kramer, Thomas T; Lo Monte, Fabio F; Göring, Stefan S; Okala Amombo, Ghislaine Marlyse GM; Schmidt, Boris B

Publication Date: 2012-03-21

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 22860184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Human Mutation

Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE

Publication Date: 2012-07

Variant appearance in text: LRRK2: 4541G>A; Arg1514Gln

PubMed Link: 22415848

Variant Present in the following documents:

• Main text

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: R1514Q; rs35507033

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Models for LRRK2-Linked Parkinsonism.

Parkinson'S Disease

Li, Tianxia T; Yang, Dejun D; Sushchky, Sarah S; Liu, Zhaohui Z; Smith, Wanli W WW

Publication Date: 2011

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 21603132

Variant Present in the following documents:

• Main text
• PD2011-942412.pdf

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: R1514Q

PubMed Link: 19625296

Variant Present in the following documents:

• Main text

View BVdb publication page

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Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.

Journal Of Neuroscience Research

Gandhi, Payal N PN; Chen, Shu G SG; Wilson-Delfosse, Amy L AL

Publication Date: 2009-05-01

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 19025767

Variant Present in the following documents:

• Main text

View BVdb publication page

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Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta

Biskup, Saskia S; West, Andrew B AB

Publication Date: 2009-07

Variant appearance in text: LRRK2: R1514Q

PubMed Link: 18973807

Variant Present in the following documents:

• Main text

View BVdb publication page

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LRRK2 expression in normal and pathologic human brain and in human cell lines.

Journal Of Neuropathology And Experimental Neurology

Miklossy, Judith J; Arai, Tetsuaki T; Guo, Jian-Ping JP; Klegeris, Andis A; Yu, Sheng S; McGeer, Edith G EG; McGeer, Patrick L PL

Publication Date: 2006-10

Variant appearance in text: PARK8: R1514Q

PubMed Link: 17021400

Variant Present in the following documents:

• Main text
• 65-10-953.pdf

View BVdb publication page

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