دورية أكاديمية
The transcriptional landscape of Shh medulloblastoma
| العنوان: | The transcriptional landscape of Shh medulloblastoma |
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| المؤلفون: | Skowron, Patryk, Farooq, Hamza, Cavalli, Florence, M G, Morrissy, A, Sorana, Ly, Michelle, Hendrikse, Liam, D, Wang, Evan, y, Djambazian, Haig, Zhu, Helen, Mungall, Karen, L, Trinh, Quang, M, Zheng, Tina, Dai, Shizhong, Stucklin, Ana, S Guerreiro, Vladoiu, Maria, C, Fong, Vernon, Holgado, Borja, L, Nor, Carolina, Wu, Xiaochong, Abd-Rabbo, Diala, Bérubé, Pierre, Wang, Yu, Chang, Luu, Betty, Suarez, Raul, A, Rastan, Avesta, Gillmor, Aaron, H, Lee, John, J y, Zhang, Xiao, Yun, Daniels, Craig, Dirks, Peter, Malkin, David, Bouffet, Eric, Tabori, Uri, Loukides, James, Doz, François, P, Bourdeaut, Franck, Delattre, Olivier, O, Masliah-Planchon, Julien, Ayrault, Olivier, Kim, Seung-Ki, Meyronet, David, Grajkowska, Wieslawa, A, Carlotti, Carlos, G, de Torres, Carmen, Mora, Jaume, Eberhart, Charles, G, van Meir, Erwin, G, Kumabe, Toshihiro, French, Pim, J, Kros, Johan, M, Jabado, Nada, Lach, Boleslaw, Pollack, Ian, F, Hamilton, Ronald, L, Rao, Amulya, a Nageswara, Giannini, Caterina, Olson, James, M, Bognár, László, Klekner, Almos, Zitterbart, Karel, Phillips, Joanna, J, Thompson, Reid, C, Cooper, Michael, K, Rubin, Joshua, B, Liau, Linda, M, Garami, Miklós, Hauser, Peter, Li, Kay, Ka Wai, Ng, Ho-Keung, Poon, Wai, Sang, Yancey Gillespie, G, Chan, Jennifer, A, Jung, Shin, Mclendon, Roger, E, Thompson, Eric, M, Zagzag, David, Vibhakar, Rajeev, Ra, Young, Shin, Garre, Maria, Luisa, Schüller, Ulrich, Shofuda, Tomoko, Faria, Claudia, C, López-Aguilar, Enrique, Zadeh, Gelareh, Hui, Chi-Chung, Ramaswamy, Vijay, Bailey, Swneke, D, Jones, Steven, J, Mungall, Andrew, J, Moore, Richard, A, Calarco, John, A, Stein, Lincoln, D, Bader, Gary, D, Reimand, Jüri, Ragoussis, Jiannis, Weiss, William, A, Marra, Marco, A, Suzuki, Hiromichi, Taylor, Michael, D |
| المساهمون: | The Hospital for sick children Toronto (SickKids), The Wellcome Trust Sanger Institute Cambridge, Institut Curie Paris, Unité de génétique et biologie des cancers (U830), Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM), Signalisation, radiobiologie et cancer, Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard Lyon -Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS) |
| المصدر: | ISSN: 2041-1723. |
| بيانات النشر: | HAL CCSD Nature Publishing Group |
| سنة النشر: | 2021 |
| المجموعة: | HAL Lyon 1 (University Claude Bernard Lyon 1) |
| مصطلحات موضوعية: | [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] |
| الوصف: | International audience ; Sonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers of the developing central nervous system. Here, we use unbiased sequencing of the transcriptome across a large cohort of 250 tumors to reveal differences among molecular subtypes of the disease, and demonstrate the previously unappreciated importance of noncoding RNA transcripts. We identify alterations within the cAMP dependent pathway (GNAS, PRKAR1A) which converge on GLI2 activity and show that 18% of tumors have a genetic event that directly targets the abundance and/or stability of MYCN. Furthermore, we discover an extensive network of fusions in focally amplified regions encompassing GLI2, and several lossof-function fusions in tumor suppressor genes PTCH1, SUFU and NCOR1. Molecular convergence on a subset of genes by nucleotide variants, copy number aberrations, and gene fusions highlight the key roles of specific pathways in the pathogenesis of Sonic hedgehog medulloblastoma and open up opportunities for therapeutic intervention. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | hal-03405528; https://hal.science/hal-03405528Test; https://hal.science/hal-03405528/documentTest; https://hal.science/hal-03405528/file/Skowron_Nat_com_2021.pdfTest |
| DOI: | 10.1038/s41467-021-21883-0 |
| الإتاحة: | https://doi.org/10.1038/s41467-021-21883-0Test https://hal.science/hal-03405528Test https://hal.science/hal-03405528/documentTest https://hal.science/hal-03405528/file/Skowron_Nat_com_2021.pdfTest |
| حقوق: | info:eu-repo/semantics/OpenAccess |
| رقم الانضمام: | edsbas.F23A2D50 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-021-21883-0 |
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