Publications:

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MEK inhibition reduced vascular tumor growth and coagulopathy in a mouse model with hyperactive GNAQ.

Nature Communications

Schrenk, Sandra S; Bischoff, Lindsay J LJ; Goines, Jillian J; Cai, Yuqi Y; Vemaraju, Shruti S; Odaka, Yoshinobu Y; Good, Samantha R SR; Palumbo, Joseph S JS; Szabo, Sara S; Reynaud, Damien D; Van Raamsdonk, Catherine D CD; Lang, Richard A RA; Boscolo, Elisa E

Publication Date: 2023-04-06

Variant appearance in text: GNAQ: Gln209Leu

PubMed Link: 37024491

Variant Present in the following documents:

• Main text
• 41467_2023_Article_37516.pdf

View BVdb publication page

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Blockade of ß-Adrenergic Receptors by Nebivolol Enables Tumor Control Potential for Uveal Melanoma in 3D Tumor Spheroids and 2D Cultures.

International Journal Of Molecular Sciences

Farhoumand, Lina S LS; Liu, Hongtao H; Tsimpaki, Theodora T; Hendgen-Cotta, Ulrike B UB; Rassaf, Tienush T; Bechrakis, Nikolaos E NE; Fiorentzis, Miltiadis M; Berchner-Pfannschmidt, Utta U

Publication Date: 2023-03-20

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36982966

Variant Present in the following documents:

• ijms-24-05894.pdf

View BVdb publication page

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Two-step structural changes in M3 muscarinic receptor activation rely on the coupled Gq protein cycle.

Nature Communications

Kim, Yong-Seok YS; Yeon, Jun-Hee JH; Ko, Woori W; Suh, Byung-Chang BC

Publication Date: 2023-03-08

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36882424

Variant Present in the following documents:

• 41467_2023_Article_36911.pdf

View BVdb publication page

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Integrated, Longitudinal Analysis of Cell-free DNA in Uveal Melanoma.

Cancer Research Communications

Wong, Derek D; Luo, Ping P; Znassi, Nadia N; Arteaga, Diana P DP; Gray, Diana D; Danesh, Arnavaz A; Han, Ming M; Zhao, Eric Y EY; Pedersen, Stephanie S; Prokopec, Stephenie S; Sundaravadanam, Yogi Y; Torti, Dax D; Marsh, Kayla K; Keshavarzi, Sareh S; Xu, Wei W; Krema, Hatem H; Joshua, Anthony M AM; Butler, Marcus O MO; Pugh, Trevor J TJ

Publication Date: 2023-02

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 36860651

Variant Present in the following documents:

• crc-22-0456-s04.xlsx, sheet 1

View BVdb publication page

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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: GNAQ: Gln209Leu

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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[11C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: a prospective, within-patient trial.

Nature Medicine

Wu, Xilin X; Senanayake, Russell R; Goodchild, Emily E; Bashari, Waiel A WA; Salsbury, Jackie J; Cabrera, Claudia P CP; Argentesi, Giulia G; O'Toole, Samuel M SM; Matson, Matthew M; Koo, Brendan B; Parvanta, Laila L; Hilliard, Nick N; Kosmoliaptsis, Vasilis V; Marker, Alison A; Berney, Daniel M DM; Tan, Wilson W; Foo, Roger R; Mein, Charles A CA; Wozniak, Eva E; Savage, Emmanuel E; Sahdev, Anju A; Bird, Nicholas N; Laycock, Kate K; Boros, Istvan I; Hader, Stefan S; Warnes, Victoria V; Gillett, Daniel D; Dawnay, Anne A; Adeyeye, Elizabeth E; Prete, Alessandro A; Taylor, Angela E AE; Arlt, Wiebke W; Bhuva, Anish N AN; Aigbirhio, Franklin F; Manisty, Charlotte C; McIntosh, Alasdair A; McConnachie, Alexander A; Cruickshank, J Kennedy JK; Cheow, Heok H; Gurnell, Mark M; Drake, William M WM; Brown, Morris J MJ

Publication Date: 2023-01-16

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36646800

Variant Present in the following documents:

• 41591_2022_2114_MOESM1_ESM.pdf

View BVdb publication page

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A phase I trial of LXS196, a protein kinase C (PKC) inhibitor, for metastatic uveal melanoma.

British Journal Of Cancer

Piperno-Neumann, S S; Carlino, M S MS; Boni, V V; Loirat, D D; Speetjens, F M FM; Park, J J JJ; Calvo, E E; Carvajal, R D RD; Nyakas, M M; Gonzalez-Maffe, J J; Zhu, X X; Shirley, M D MD; Ramkumar, T T; Fessehatsion, A A; Burks, H E HE; Yerramilli-Rao, P P; Kapiteijn, E E

Publication Date: 2023-01-09

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36624219

Variant Present in the following documents:

• 41416_2022_Article_2133.pdf

View BVdb publication page

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Investigating the Role of DUSP4 in Uveal Melanoma.

Translational Vision Science & Technology

Aughton, Karen K; Sabat-Pospiech, Dorota D; Barlow, Samantha S; Coupland, Sarah E SE; Kalirai, Helen H

Publication Date: 2022-12-01

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36576731

Variant Present in the following documents:

• tvst-11-12-13_s004.pdf

View BVdb publication page

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Detectability of Plasma-Derived Circulating Tumor DNA Panel in Patients Undergoing Primary Treatment for Uveal Melanoma.

Investigative Ophthalmology & Visual Science

Francis, Jasmine H JH; Barker, Christopher A CA; Brannon, A Rose AR; Canestraro, Julia J; Robbins, Melissa M; Swartzwelder, Christina E CE; Levine, Sara S; Law, Crystal C; Berger, Michael F MF; Shoushtari, Alexander A; Abramson, David H DH

Publication Date: 2022-12-01

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36525262

Variant Present in the following documents:

• Main text
• iovs-63-13-17.pdf

View BVdb publication page

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GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models.

Frontiers In Human Neuroscience

Van Trigt, William K WK; Kelly, Kristen M KM; Hughes, Christopher C W CCW

Publication Date: 2022

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 36405075

Variant Present in the following documents:

• Main text
• fnhum-16-1006027.pdf

View BVdb publication page

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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: GNAQ: Q209L

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

International Journal Of Molecular Sciences

Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Trandafir, Laura Mihaela LM; Stoleriu, Simona S; Bădescu, Minerva Codruța MC; Luca, Alina-Costina AC; Popa, Setalia S; Radu, Iulian I; Cojocaru, Elena E

Publication Date: 2022-10-13

Variant appearance in text: GNAQ: 626A>T; Gln209Leu

PubMed Link: 36293054

Variant Present in the following documents:

• Main text
• ijms-23-12199.pdf

View BVdb publication page

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Clinical and molecular response to tebentafusp in previously treated patients with metastatic uveal melanoma: a phase 2 trial.

Nature Medicine

Carvajal, Richard D RD; Butler, Marcus O MO; Shoushtari, Alexander N AN; Hassel, Jessica C JC; Ikeguchi, Alexandra A; Hernandez-Aya, Leonel L; Nathan, Paul P; Hamid, Omid O; Piulats, Josep M JM; Rioth, Matthew M; Johnson, Douglas B DB; Luke, Jason J JJ; Espinosa, Enrique E; Leyvraz, Serge S; Collins, Laura L; Goodall, Howard M HM; Ranade, Koustubh K; Holland, Chris C; Abdullah, Shaad E SE; Sacco, Joseph J JJ; Sato, Takami T

Publication Date: 2022-11

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36229663

Variant Present in the following documents:

• 41591_2022_2015_MOESM1_ESM.pdf
• 41591_2022_Article_2015.pdf

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 11

View BVdb publication page

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Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case.

Journal Of Neurosurgery. Case Lessons

Lang-Orsini, Melanie M; Wu, Julian J; Heilman, Carl B CB; Kravtsova, Alina A; Weinstein, Gene G; Madan, Neel N; Arkun, Knarik K

Publication Date: 2021-11-15

Variant appearance in text: GNAQ: Q209L

PubMed Link: 36061091

Variant Present in the following documents:

• Main text
• CASE21444.pdf

View BVdb publication page

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GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma.

Cancers

Silva-Rodríguez, Paula P; Fernández-Díaz, Daniel D; Bande, Manuel M; Pardo, María M; Loidi, Lourdes L; Blanco-Teijeiro, María José MJ

Publication Date: 2022-06-22

Variant appearance in text: GNAQ: Gln209Leu

PubMed Link: 35804836

Variant Present in the following documents:

• cancers-14-03066.pdf

View BVdb publication page

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Calcium Electroporation Reduces Viability and Proliferation Capacity of Four Uveal Melanoma Cell Lines in 2D and 3D Cultures.

Cancers

Kraemer, Miriam M MM; Tsimpaki, Theodora T; Berchner-Pfannschmidt, Utta U; Bechrakis, Nikolaos E NE; Seitz, Berthold B; Fiorentzis, Miltiadis M

Publication Date: 2022-06-11

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35740554

Variant Present in the following documents:

• Main text
• cancers-14-02889.pdf

View BVdb publication page

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Local recurrence of uveal melanoma and concomitant brain metastases associated with an activating telomerase promoter mutation seven years after secondary enucleation.

American Journal Of Ophthalmology Case Reports

Heng, Jacob S JS; Perzia, Brittany M BM; Sinard, John H JH; Pointdujour-Lim, Renelle R

Publication Date: 2022-09

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35707052

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.

International Journal Of Molecular Sciences

Im, Deborah H DH; Peng, Chen-Ching CC; Xu, Liya L; Kim, Mary E ME; Ostrow, Dejerianne D; Yellapantula, Venkata V; Bootwalla, Moiz M; Biegel, Jaclyn A JA; Gai, Xiaowu X; Prabakar, Rishvanth K RK; Kuhn, Peter P; Hicks, James J; Berry, Jesse L JL

Publication Date: 2022-06-02

Variant appearance in text: GNAQ: 626A>T

PubMed Link: 35682905

Variant Present in the following documents:

• ijms-23-06226.pdf

View BVdb publication page

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SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma.

Cell Death & Disease

Fan, Zhongyi Z; Duan, Jingjing J; Luo, Pu P; Shao, Ling L; Chen, Qiong Q; Tan, Xiaohua X; Zhang, Lei L; Xu, Xiaojie X

Publication Date: 2022-04-11

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35411037

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12

View BVdb publication page

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Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers

Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V

Publication Date: 2022-01-29

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35158973

Variant Present in the following documents:

• Main text
• cancers-14-00706.pdf

View BVdb publication page

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Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers

Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V

Publication Date: 2022-01-29

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35158973

Variant Present in the following documents:

• Main text
• cancers-14-00706.pdf

View BVdb publication page

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Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma.

Ocular Oncology And Pathology

Alsina, Katherina M KM; Sholl, Lauren M LM; Covington, Kyle R KR; Arnal, Suzzette M SM; Durante, Michael A MA; Decatur, Christina L CL; Stone, John F JF; Oelschlager, Kristen M KM; Harbour, J William JW; Monzon, Federico A FA; Cook, Robert W RW; Borman, Sherri S

Publication Date: 2021-12

Variant appearance in text: GNAQ: 626A>T; Gln209Leu

PubMed Link: 35083209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: Differential Genomics and Evolution of a Meningeal Melanoma Treated With Ipilimumab and Nivolumab.

Frontiers In Oncology

Burgos, Remberto R; Cardona, Andrés F AF; Santoyo, Nicolas N; Ruiz-Patiño, Alejandro A; Cure-Casilimas, Juanita J; Rojas, Leonardo L; Ricaurte, Luisa L; Muñoz, Álvaro Á; Garcia-Robledo, Juan Esteban JE; Ordoñez, Camila C; Sotelo, Carolina C; Rodríguez, July J; Zatarain-Barrón, Zyanya Lucia ZL; Pineda, Diego D; Arrieta, Oscar O

Publication Date: 2021

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 35070950

Variant Present in the following documents:

• Main text

View BVdb publication page

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Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib.

Cancers

Sasaki, Maiko M; Jung, Yoonhee Y; North, Paula P; Elsey, Justin J; Choate, Keith K; Toussaint, Michael Andrew MA; Huang, Christina C; Radi, Rakan R; Perricone, Adam J AJ; Corces, Victor G VG; Arbiser, Jack L JL

Publication Date: 2022-01-14

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35053574

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Bmc Medical Genomics

Tan, Jaymi J; Chow, Yock Ping YP; Zainul Abidin, Norziha N; Chang, Kian Meng KM; Selvaratnam, Veena V; Tumian, Nor Rafeah NR; Poh, Yang Ming YM; Veerakumarasivam, Abhi A; Laffan, Michael Arthur MA; Wong, Chieh Lee CL

Publication Date: 2022-01-15

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35033063

Variant Present in the following documents:

• 12920_2021_1145_MOESM3_ESM.pdf

View BVdb publication page

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Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.

Bmc Medical Genomics

Tan, Jaymi J; Chow, Yock Ping YP; Zainul Abidin, Norziha N; Chang, Kian Meng KM; Selvaratnam, Veena V; Tumian, Nor Rafeah NR; Poh, Yang Ming YM; Veerakumarasivam, Abhi A; Laffan, Michael Arthur MA; Wong, Chieh Lee CL

Publication Date: 2022-01-15

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35033063

Variant Present in the following documents:

• 12920_2021_1145_MOESM3_ESM.pdf

View BVdb publication page

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Scientific and clinical implications of genetic and cellular heterogeneity in uveal melanoma.

Molecular Biomedicine

de Lange, Mark J MJ; Nell, Rogier J RJ; van der Velden, Pieter A PA

Publication Date: 2021-08-20

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35006486

Variant Present in the following documents:

• Main text

View BVdb publication page

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Scientific and clinical implications of genetic and cellular heterogeneity in uveal melanoma.

Molecular Biomedicine

de Lange, Mark J MJ; Nell, Rogier J RJ; van der Velden, Pieter A PA

Publication Date: 2021-08-20

Variant appearance in text: GNAQ: Q209L

PubMed Link: 35006486

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pigmented Epithelioid Melanocytomas and Their Mimics; Focus on Their Novel Molecular Findings.

Biology

Bayraktar, Erol C EC; Jour, George G

Publication Date: 2021-12-08

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 34943205

Variant Present in the following documents:

• Main text
• biology-10-01290.pdf

View BVdb publication page

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Pigmented Epithelioid Melanocytomas and Their Mimics; Focus on Their Novel Molecular Findings.

Biology

Bayraktar, Erol C EC; Jour, George G

Publication Date: 2021-12-08

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 34943205

Variant Present in the following documents:

• Main text
• biology-10-01290.pdf

View BVdb publication page

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Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma.

Elife

Urtatiz, Oscar O; Haage, Amanda A; Tanentzapf, Guy G; Van Raamsdonk, Catherine D CD

Publication Date: 2021-12-23

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34939927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of Circulating Tumour Cells in Early-Stage Uveal Melanoma: Evaluation of Tumour Marker Expression to Increase Capture.

Cancers

Beasley, Aaron B AB; Isaacs, Timothy W TW; Vermeulen, Tersia T; Freeman, James J; DeSousa, Jean-Louis JL; Bhikoo, Riyaz R; Hennessy, Doireann D; Reid, Anna A; Chen, Fred K FK; Bentel, Jacqueline J; McKay, Daniel D; Conway, R Max RM; Pereira, Michelle R MR; Mirzai, Bob B; Calapre, Leslie L; Erber, Wendy N WN; Ziman, Melanie R MR; Gray, Elin S ES

Publication Date: 2021-11-28

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34885099

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Cancers

Terai, Mizue M; Shimada, Ayako A; Chervoneva, Inna I; Hulse, Liam L; Danielson, Meggie M; Swensen, Jeff J; Orloff, Marlana M; Wedegaertner, Philip B PB; Benovic, Jeffrey L JL; Aplin, Andrew E AE; Sato, Takami T

Publication Date: 2021-11-17

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34830903

Variant Present in the following documents:

• Main text
• cancers-13-05749.pdf

View BVdb publication page

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Anticancer effects of mifepristone on human uveal melanoma cells.

Cancer Cell International

Alvarez, Prisca Bustamante PB; Laskaris, Alexander A; Goyeneche, Alicia A AA; Chen, Yunxi Y; Telleria, Carlos M CM; Burnier, Julia V JV

Publication Date: 2021-11-17

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34789240

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Phase Ib Study of Sotrastaurin, a PKC Inhibitor, and Alpelisib, a PI3Kα Inhibitor, in Patients with Metastatic Uveal Melanoma.

Cancers

Shoushtari, Alexander N AN; Khan, Shaheer S; Komatsubara, Kimberly K; Feun, Lynn L; Acquavella, Nicolas N; Singh-Kandah, Shahnaz S; Negri, Tiffany T; Nesson, Alexandra A; Abbate, Kelly K; Cremers, Serge S; Musi, Elgilda E; Ambrosini, Grazia G; Lee, Shing S; Schwartz, Gary K GK; Carvajal, Richard D RD

Publication Date: 2021-11-02

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34771668

Variant Present in the following documents:

• Main text

View BVdb publication page

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Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Molecular Oncology

Yu, Le L; Zhou, Dan D; Zhang, Guiming G; Ren, Zhonglu Z; Luo, Xin X; Liu, Peng P; Plouffe, Steven W SW; Meng, Zhipeng Z; Moroishi, Toshiro T; Li, Yilei Y; Zhang, Yiyue Y; Brown, Joan Heller JH; Liu, Shuwen S; Guan, Kun-Liang KL

Publication Date: 2022-02

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34706158

Variant Present in the following documents:

• Main text
• MOL2-16-607-s009.pdf
• MOL2-16-607-s002.pdf
• MOL2-16-607.pdf

View BVdb publication page

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Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Molecular Oncology

Yu, Le L; Zhou, Dan D; Zhang, Guiming G; Ren, Zhonglu Z; Luo, Xin X; Liu, Peng P; Plouffe, Steven W SW; Meng, Zhipeng Z; Moroishi, Toshiro T; Li, Yilei Y; Zhang, Yiyue Y; Brown, Joan Heller JH; Liu, Shuwen S; Guan, Kun-Liang KL

Publication Date: 2021-10-27

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34706158

Variant Present in the following documents:

• Main text
• MOL2-16-607-s009.pdf
• MOL2-16-607-s002.pdf
• MOL2-16-607.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports

Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH

Publication Date: 2021-09-20

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34545149

Variant Present in the following documents:

• Main text
• 41598_2021_98084_MOESM2_ESM.xlsx, sheet 2
• 41598_2021_Article_98084.pdf
• 41598_2021_98084_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival.

Oncogene

Dewaele, Shanna S; Delhaye, Louis L; De Paepe, Boel B; de Bony, Eric James EJ; De Wilde, Jilke J; Vanderheyden, Katrien K; Anckaert, Jasper J; Yigit, Nurten N; Nuytens, Justine J; Vanden Eynde, Eveline E; Smet, Joél J; Verschoore, Maxime M; Nemati, Fariba F; Decaudin, Didier D; Rodrigues, Manuel M; Zhao, Peihua P; Jochemsen, Aart A; Leucci, Eleonora E; Vandesompele, Jo J; Van Dorpe, Jo J; Marine, Jean-Christophe JC; Van Coster, Rudy R; Eyckerman, Sven S; Mestdagh, Pieter P

Publication Date: 2021-09-10

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34508176

Variant Present in the following documents:

• Main text

View BVdb publication page

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The PEMDAC phase 2 study of pembrolizumab and entinostat in patients with metastatic uveal melanoma.

Nature Communications

Ny, Lars L; Jespersen, Henrik H; Karlsson, Joakim J; Alsén, Samuel S; Filges, Stefan S; All-Eriksson, Charlotta C; Andersson, Bengt B; Carneiro, Ana A; Helgadottir, Hildur H; Levin, Max M; Ljuslinder, Ingrid I; Olofsson Bagge, Roger R; Sah, Vasu R VR; Stierner, Ulrika U; Ståhlberg, Anders A; Ullenhag, Gustav G; Nilsson, Lisa M LM; Nilsson, Jonas A JA

Publication Date: 2021-08-27

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34453044

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25332.pdf

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A Novel Regimen for Treating Melanoma: MCL1 Inhibitors and Azacitidine.

Pharmaceuticals (Basel, Switzerland)

Dart, Chiara R CR; Mukherjee, Nabanita N; Amato, Carol M CM; Goulding, Anabel A; MacBeth, Morgan M; Van Gulick, Robert R; Couts, Kasey L KL; Lambert, James R JR; Norris, David A DA; Robinson, William A WA; Shellman, Yiqun G YG

Publication Date: 2021-07-30

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34451846

Variant Present in the following documents:

• Main text

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Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Archives Of Medical Science : Ams

Ustaszewski, Adam A; Janowska-Głowacka, Joanna J; Wołyńska, Katarzyna K; Pietrzak, Anna A; Badura-Stronka, Magdalena M

Publication Date: 2021

Variant appearance in text: GNAQ: 626A>T; Gln209Leu

PubMed Link: 34336026

Variant Present in the following documents:

• Main text

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Functional and mutational analysis after radiation and cetuximab treatment on prostate carcinoma cell line DU145.

Radiation Oncology (London, England)

Schneider, Raik R; Gademann, Günther G; Ochel, Hans-Joachim HJ; Neumann, Karsten K; Jandrig, Burkhard B; Hass, Peter P; Walke, Mathias M; Schostak, Martin M; Brunner, Thomas T; Christoph, Frank F

Publication Date: 2021-07-28

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34321039

Variant Present in the following documents:

• Main text

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Activation of the integrated stress response confers vulnerability to mitoribosome-targeting antibiotics in melanoma.

The Journal Of Experimental Medicine

Vendramin, Roberto R; Katopodi, Vicky V; Cinque, Sonia S; Konnova, Angelina A; Knezevic, Zorica Z; Adnane, Sara S; Verheyden, Yvessa Y; Karras, Panagiotis P; Demesmaeker, Ewout E; Bosisio, Francesca M FM; Kucera, Lukas L; Rozman, Jan J; Gladwyn-Ng, Ivan I; Rizzotto, Lara L; Dassi, Erik E; Millevoi, Stefania S; Bechter, Oliver O; Marine, Jean-Christophe JC; Leucci, Eleonora E

Publication Date: 2021-09-06

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34287642

Variant Present in the following documents:

• Main text

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Circulating Tumor DNA as a Marker for Treatment Response in Metastatic Melanoma Patients Using Next-Generation Sequencing-A Prospective Feasibility Study.

Cancers

Berger, Marina M; Thueringer, Andrea A; Franz, Doritt D; Dandachi, Nadia N; Talakić, Emina E; Richtig, Georg G; Richtig, Erika E; Rohrer, Peter Michael PM; Koch, Lukas L; Wolf, Ingrid Hildegard IH; Koch, Catharina C; Rainer, Barbara Margaretha BM; Koeller, Maximilian M; Pichler, Martin M; Gerritsmann, Hanno H; Kashofer, Karl K; Aigelsreiter, Ariane A

Publication Date: 2021-06-21

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34205831

Variant Present in the following documents:

• Main text
• cancers-13-03101.pdf

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Electrochemotherapy with Bleomycin Enhances Radiosensitivity of Uveal Melanomas: First In Vitro Results in 3D Cultures of Primary Uveal Melanoma Cell Lines.

Cancers

Fiorentzis, Miltiadis M; Sokolenko, Ekaterina A EA; Bechrakis, Nikolaos E NE; Ting, Saskia S; Schmid, Kurt W KW; Sak, Ali A; Stuschke, Martin M; Seitz, Berthold B; Berchner-Pfannschmidt, Utta U

Publication Date: 2021-06-21

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34205625

Variant Present in the following documents:

• Main text

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Hindsight: Review of Preclinical Disease Models for the Development of New Treatments for Uveal Melanoma.

Journal Of Cancer

Goldrick, Caoimhe C; Palanga, Letizia L; Tang, Bobby B; Mealy, Grace G; Crown, John J; Horgan, Noel N; Kennedy, Susan S; Walsh, Naomi N

Publication Date: 2021

Variant appearance in text: GNAQ: 626A>T; Q209L

PubMed Link: 34149931

Variant Present in the following documents:

• Main text

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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Human Molecular Genetics

Fjær, Roar R; Marciniak, Katarzyna K; Sundnes, Olav O; Hjorthaug, Hanne H; Sheng, Ying Y; Hammarström, Clara C; Sitek, Jan Cezary JC; Vigeland, Magnus Dehli MD; Backe, Paul Hoff PH; Øye, Ane-Marte AM; Fosse, Johanna Hol JH; Stav-Noraas, Tor Espen TE; Uchiyama, Yuri Y; Matsumoto, Naomichi N; Comi, Anne A; Pevsner, Jonathan J; Haraldsen, Guttorm G; Selmer, Kaja Kristine KK

Publication Date: 2021-10-13

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34124757

Variant Present in the following documents:

• Main text

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Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies.

Frontiers In Oncology

Scatena, Cristian C; Murtas, Daniela D; Tomei, Sara S

Publication Date: 2021

Variant appearance in text: GNAQ: Q209L

PubMed Link: 34123788

Variant Present in the following documents:

• Main text

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