Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TEK: 2690A>C; Tyr897Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Brain-restricted mTOR inhibition with binary pharmacology.

Nature

Zhang, Ziyang Z; Fan, Qiwen Q; Luo, Xujun X; Lou, Kevin K; Weiss, William A WA; Shokat, Kevan M KM

Publication Date: 2022-09

Variant appearance in text: TIE2: Y897S

PubMed Link: 36104566

Variant Present in the following documents:

• 41586_2022_5213_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A lymphatic-absorbed multi-targeted kinase inhibitor for myelofibrosis therapy.

Nature Communications

Ross, Brian D BD; Jang, Youngsoon Y; Welton, Amanda A; Bonham, Christopher A CA; Palagama, Dilrukshika S W DSW; Heist, Kevin K; Boppisetti, Jagadish J; Imaduwage, Kasun P KP; Robison, Tanner T; King, Leah R LR; Zhang, Edward Z EZ; Amirfazli, Cyrus C; Luker, Kathryn E KE; Lee, Winston Y WY; Luker, Gary D GD; Chenevert, Thomas L TL; Van Dort, Marcian E ME

Publication Date: 2022-08-17

Variant appearance in text: TIE2: Y897S

PubMed Link: 35977945

Variant Present in the following documents:

• 41467_2022_32486_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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New Angiogenic Regulators Produced by TAMs: Perspective for Targeting Tumor Angiogenesis.

Cancers

Larionova, Irina I; Kazakova, Elena E; Gerashchenko, Tatiana T; Kzhyshkowska, Julia J

Publication Date: 2021-06-29

Variant appearance in text: rs80338909

PubMed Link: 34209679

Variant Present in the following documents:

• Main text
• cancers-13-03253.pdf

View BVdb publication page

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A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine

Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM

Publication Date: 2020-12-10

Variant appearance in text: rs80338909

PubMed Link: 33303739

Variant Present in the following documents:

• Main text
• 41525_2020_Article_161.pdf
• 41525_2020_161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A cell permeant phosphopeptide mimetic of Niban inhibits p38 MAPK and restores endothelial function after injury.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yim, Tsz Wing TW; Perling, Daniel D; Polcz, Monica M; Komalavilas, Padmini P; Brophy, Colleen C; Cheung-Flynn, Joyce J

Publication Date: 2020-07

Variant appearance in text: TIE2: Y897S

PubMed Link: 32396246

Variant Present in the following documents:

• FSB2-34-9180-s009.xls, sheet 3

View BVdb publication page

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: TEK: 2690A>C; Tyr897Ser

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: TIE2: Y897S

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

International Journal Of Molecular Sciences

Nguyen, Vi V; Hochman, Marcelo M; Mihm, Martin C MC; Nelson, J Stuart JS; Tan, Wenbin W

Publication Date: 2019-05-07

Variant appearance in text: TEK: Y897S

PubMed Link: 31067686

Variant Present in the following documents:

• Main text
• ijms-20-02243.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TEK: 2690A>C; Tyr897Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Activity of the novel BCR kinase inhibitor IQS019 in preclinical models of B-cell non-Hodgkin lymphoma.

Journal Of Hematology & Oncology

Balsas, P P; Esteve-Arenys, A A; Roldán, J J; Jiménez, L L; Rodríguez, V V; Valero, J G JG; Chamorro-Jorganes, A A; de la Bellacasa, R Puig RP; Teixidó, J J; Matas-Céspedes, A A; Moros, A A; Martínez, A A; Campo, E E; Sáez-Borderías, A A; Borrell, J I JI; Pérez-Galán, P P; Colomer, D D; Roué, G G

Publication Date: 2017-03-31

Variant appearance in text: TIE2: Y897S

PubMed Link: 28359287

Variant Present in the following documents:

View BVdb publication page

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Unprecedently Large-Scale Kinase Inhibitor Set Enabling the Accurate Prediction of Compound-Kinase Activities: A Way toward Selective Promiscuity by Design?

Journal Of Chemical Information And Modeling

Christmann-Franck, Serge S; van Westen, Gerard J P GJ; Papadatos, George G; Beltran Escudie, Fanny F; Roberts, Alexander A; Overington, John P JP; Domine, Daniel D

Publication Date: 2016-09-26

Variant appearance in text: TEK: Y897S

PubMed Link: 27482722

Variant Present in the following documents:

• ci6b00122_si_004.xlsx, sheet 4

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: VMCM: Y897S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Common and specific effects of TIE2 mutations causing venous malformations.

Human Molecular Genetics

Nätynki, Marjut M; Kangas, Jaakko J; Miinalainen, Ilkka I; Sormunen, Raija R; Pietilä, Riikka R; Soblet, Julie J; Boon, Laurence M LM; Vikkula, Miikka M; Limaye, Nisha N; Eklund, Lauri L

Publication Date: 2015-11-15

Variant appearance in text: TIE2: Y897S

PubMed Link: 26319232

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: TEK: Y897S

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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PhosphoSitePlus, 2014: mutations, PTMs and recalibrations.

Nucleic Acids Research

Hornbeck, Peter V PV; Zhang, Bin B; Murray, Beth B; Kornhauser, Jon M JM; Latham, Vaughan V; Skrzypek, Elzbieta E

Publication Date: 2015-01

Variant appearance in text: TIE2: Y897S

PubMed Link: 25514926

Variant Present in the following documents:

• Main text
• gku1267.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: TEK: Y897S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Chaperones as thermodynamic sensors of drug-target interactions reveal kinase inhibitor specificities in living cells.

Nature Biotechnology

Taipale, Mikko M; Krykbaeva, Irina I; Whitesell, Luke L; Santagata, Sandro S; Zhang, Jianming J; Liu, Qingsong Q; Gray, Nathanael S NS; Lindquist, Susan S

Publication Date: 2013-07

Variant appearance in text: TEK: Y897S

PubMed Link: 23811600

Variant Present in the following documents:

• NIHMS484224-supplement-2.xlsx, sheet 2

View BVdb publication page

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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

European Journal Of Human Genetics : Ejhg

Wouters, Vinciane V; Limaye, Nisha N; Uebelhoer, Melanie M; Irrthum, Alexandre A; Boon, Laurence M LM; Mulliken, John B JB; Enjolras, Odile O; Baselga, Eulalia E; Berg, Jonathan J; Dompmartin, Anne A; Ivarsson, Sten A SA; Kangesu, Loshan L; Lacassie, Yves Y; Murphy, Jill J; Teebi, Ahmad S AS; Penington, Anthony A; Rieu, Paul P; Vikkula, Miikka M

Publication Date: 2010-04

Variant appearance in text: VMCM: 2690A>C

PubMed Link: 19888299

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: TEK: Y897S

PubMed Link: 19139070

Variant Present in the following documents:

• Main text
• gkn1008_nar-01723-s-2008-File006.xls, sheet 1
• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.

Nature Genetics

Limaye, Nisha N; Wouters, Vinciane V; Uebelhoer, Melanie M; Tuominen, Marjut M; Wirkkala, Riikka R; Mulliken, John B JB; Eklund, Lauri L; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2009-01

Variant appearance in text: TIE2: Y897S

PubMed Link: 19079259

Variant Present in the following documents:

• Main text
• NIHMS103256-supplement-1.pdf
• nihms-103256.pdf

View BVdb publication page

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