Publications:

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LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Biomolecules

Zhang, Xiaojuan X; Kortholt, Arjan A

Publication Date: 2023-03-28

Variant appearance in text: LRRK2: M2397T

PubMed Link: 37189360

Variant Present in the following documents:

• Main text
• biomolecules-13-00612.pdf

View BVdb publication page

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Immunological Features of LRRK2 Function and Its Role in the Gut-Brain Axis Governing Parkinson's Disease.

Journal Of Parkinson'S Disease

Peter, Inga I; Strober, Warren W

Publication Date: 2023-04-10

Variant appearance in text: LRRK2: M2397T

PubMed Link: 37066923

Variant Present in the following documents:

• Main text
• jpd-13-jpd230021.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: LRRK2: M2397T

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Allele-dependent interaction of LRRK2 and NOD2 in leprosy.

Plos Pathogens

Dallmann-Sauer, Monica M; Xu, Yong Zhong YZ; da Costa, Ana Lúcia França ALF; Tao, Shao S; Gomes, Tiago Araujo TA; Prata, Rhana Berto da Silva RBDS; Correa-Macedo, Wilian W; Manry, Jérémy J; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Fava, Vinicius M VM; Pinheiro, Roberta Olmo RO; Lara, Flavio Alves FA; Probst, Christian M CM; Mira, Marcelo T MT; Schurr, Erwin E

Publication Date: 2023-03-27

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 36972292

Variant Present in the following documents:

• Main text
• ppat.1011260.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.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: rs3761863

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: LRRK2: Met2397Thr

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

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: LRRK2: M2397T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Are neurodegenerative diseases associated with an increased risk of inflammatory bowel disease? A two-sample Mendelian randomization study.

Frontiers In Immunology

Cui, Guanghui G; Li, Shaojie S; Ye, Hui H; Yang, Yao Y; Huang, Qiuyue Q; Chu, Yingming Y; Shi, Zongming Z; Zhang, Xuezhi X

Publication Date: 2022

Variant appearance in text: LRRK2: M2397T

PubMed Link: 36159838

Variant Present in the following documents:

• Main text
• fimmu-13-956005.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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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: Met2397Thr

PubMed Link: 35950872

Variant Present in the following documents:

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

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs3761863

PubMed Link: 35768426

Variant Present in the following documents:

• Main text
• 41531_2022_Article_346.pdf

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: LRRK2: 7190T>C; Met2397Thr; rs3761863

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Immunogenetic Determinants of Parkinson's Disease Etiology.

Journal Of Parkinson'S Disease

Kung, Pin-Jui PJ; Elsayed, Inas I; Reyes-Pérez, Paula P; Bandres-Ciga, Sara S

Publication Date: 2022

Variant appearance in text: LRRK2: M2397T

PubMed Link: 35367971

Variant Present in the following documents:

• Main text
• jpd-12-jpd223176.pdf

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: LRRK2: M2397T; rs3761863

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: LRRK2: M2397T; rs3761863

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: M2397T; rs3761863

PubMed Link: 34542912

Variant Present in the following documents:

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

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: LRRK2: 7190T>C; M2397T; rs3761863

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: LRRK2: 7190T>C; Met2397Thr; rs3761863

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: LRRK2: 7190T>C; M2397T; rs3761863

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Is LRRK2 the missing link between inflammatory bowel disease and Parkinson's disease?

Npj Parkinson'S Disease

Herrick, Mary K MK; Tansey, Malú G MG

Publication Date: 2021-03-09

Variant appearance in text: LRRK2: M2397T

PubMed Link: 33750819

Variant Present in the following documents:

• Main text
• 41531_2021_Article_170.pdf

View BVdb publication page

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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences

Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B

Publication Date: 2021-01-21

Variant appearance in text: LRRK2: 7190T>C; M2397T; rs3761863

PubMed Link: 33494262

Variant Present in the following documents:

• Main text
• ijms-22-01045.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs3761863

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: LRRK2: 7190T>C; M2397T; rs3761863

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

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: LRRK2: Met2397Thr; rs3761863

PubMed Link: 33343949

Variant Present in the following documents:

• Main text
• CRIG2020-8813344.pdf

View BVdb publication page

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The roles and functions of Paneth cells in Crohn's disease: A critical review.

Cell Proliferation

Yang, Erpeng E; Shen, Jun J

Publication Date: 2021-01

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 33174662

Variant Present in the following documents:

• Main text
• CPR-54-e12958.pdf

View BVdb publication page

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The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.

Frontiers In Neuroscience

Rideout, Hardy J HJ; Chartier-Harlin, Marie-Christine MC; Fell, Matthew J MJ; Hirst, Warren D WD; Huntwork-Rodriguez, Sarah S; Leyns, Cheryl E G CEG; Mabrouk, Omar S OS; Taymans, Jean-Marc JM

Publication Date: 2020

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 33013290

Variant Present in the following documents:

• Main text
• fnins-14-00865.pdf

View BVdb publication page

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Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S

Publication Date: 2020-06-14

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 32545847

Variant Present in the following documents:

• Main text
• diagnostics-10-00405.pdf

View BVdb publication page

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Association of NOD2 and IFNG single nucleotide polymorphisms with leprosy in the Amazon ethnic admixed population.

Plos Neglected Tropical Diseases

Leturiondo, André Luiz AL; Noronha, Ariani Batista AB; Mendonça, Carla Yael Ribeiro CYR; Ferreira, Cynthia de Oliveira CO; Alvarado-Arnez, Lucia Elena LE; Manta, Fernanda Saloum de Neves FSN; Bezerra, Ohanna Cavalcanti de Lima OCL; Carvalho, Elizeu Fagundes de EF; Moraes, Milton Ozório MO; Rodrigues, Fabíola da Costa FDC; Talhari, Carolina C

Publication Date: 2020-05

Variant appearance in text: rs3761863

PubMed Link: 32433683

Variant Present in the following documents:

• Main text

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: LRRK2: M2397T; rs3761863

PubMed Link: 32345713

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs3761863

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Leucine Rich Repeat Kinase 2 and Innate Immunity.

Frontiers In Neuroscience

Ahmadi Rastegar, Diba D; Dzamko, Nicolas N

Publication Date: 2020

Variant appearance in text: LRRK2: M2397T; rs3761863

PubMed Link: 32210756

Variant Present in the following documents:

• Main text
• fnins-14-00193.pdf

View BVdb publication page

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Crohn's and Parkinson's Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex Vivo.

Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology

Ikezu, Tsuneya T; Koro, Lacin L; Wolozin, Benjamin B; Farraye, Francis A FA; Strongosky, Audrey J AJ; Wszolek, Zbigniew K ZK

Publication Date: 2020-12

Variant appearance in text: LRRK2: M2397T

PubMed Link: 32180132

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Diagnostics (Basel, Switzerland)

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

Publication Date: 2020-03-01

Variant appearance in text: LRRK2: 7190T>C; M2397T; rs3761863

PubMed Link: 32121568

Variant Present in the following documents:

• diagnostics-10-00135-s001.pdf

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: LRRK2: 7190T>C; Met2397Thr

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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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: LRRK2: M2397T

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

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: LRRK2: 7190T>C; Met2397Thr; rs3761863

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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