التفاصيل البيبلوغرافية
| العنوان: |
The transcriptional landscape of Shh medulloblastoma |
| 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, 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: |
Repositório da Universidade de Lisboa |
| بيانات النشر: |
Springer Nature, 2021. |
| سنة النشر: |
2021 |
| الوصف: |
© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0Test/. |
| الوصف (مترجم): |
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 non-coding 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 loss-of-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: |
journal article |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
Nat Commun. 2021 Mar 19;12(1):1749; 2041-1723 |
| DOI: |
10.1038/s41467-021-21883-0 |
| الإتاحة: |
http://hdl.handle.net/10451/47140Test |
| حقوق: |
open access |
| رقم الانضمام: |
rcaap.com.ul.repositorio.ul.pt.10451.47140 |
| قاعدة البيانات: |
RCAAP |
