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001-es BibID:	BIBFORM052712
Első szerző:	Kleinman, Claudia L.
Cím:	Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR / Claudia L. Kleinman, Noha Gerges, Simon Papillon-Cavanagh, Patrick Sin-Chan, Albena Pramatarova, Dong-Anh Khuong Quang, Véronique Adoue, Stephan Busche, Maxime Caron, Haig Djambazian, Amandine Bemmo, Adam M. Fontebasso, Tara Spence, Jeremy Schwartzentruber, Steffen Albrecht, Peter Hauser, Miklos Garami, Almos Klekner, Laszlo Bognar, Jose-Luis Montes, Alfredo Staffa, Alexandre Montpetit, Pierre Berube, Magdalena Zakrzewska, Krzysztof Zakrzewski, Pawel P. Liberski, Zhifeng Dong, Peter M. Siegel, Thomas Duchaine, Christian Perotti, Adam Fleming, Damien Faury, Marc Remke, Marco Gallo, Peter Dirks Michael D. Taylor, Robert Sladek, Tomi Pastinen, Jennifer A. Chan, Annie Huang, Jacek Majewski, Nada Jabado
Dátum:	2013
ISSN:	1061-4036
Megjegyzések:	Embryonal tumors with multilayered rosettes (ETMRs) are rare, deadly pediatric brain tumors characterized by high-level amplification of the microRNA cluster C19MC1, 2. We performed integrated genetic and epigenetic analyses of 12 ETMR samples and identified, in all cases, C19MC fusions to TTYH1 driving expression of the microRNAs. ETMR tumors, cell lines and xenografts showed a specific DNA methylation pattern distinct from those of other tumors and normal tissues. We detected extreme overexpression of a previously uncharacterized isoform of DNMT3B originating at an alternative promoter3 that is active only in the first weeks of neural tube development. Transcriptional and immunohistochemical analyses suggest that C19MC-dependent DNMT3B deregulation is mediated by RBL2, a known repressor of DNMT3B4, 5. Transfection with individual C19MC microRNAs resulted in DNMT3B upregulation and RBL2 downregulation in cultured cells. Our data suggest a potential oncogenic re-engagement of an early developmental program in ETMR via epigenetic alteration mediated by an embryonic, brain-specific DNMT3B isoform.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Nature Genetics. - 46 : 1 (2013), p. 39-44. -
További szerzők:	Gerges, Noha Papillon-Cavanagh, Simon Sin-Chan, Patrick Pramatarova, Albena Quang, Dong-Anh Khuong Adoue, Véronique Busche, Stephan Caron, Maxime Djambazian, Haig Bemmo, Amandine Fontebasso, Adam M. Spence, Tara Schwartzentruber, Jeremy Albrecht, Stephen Hauser Péter Garami Miklós Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Montes, Jose-Luis Staffa, Alfredo Montpetit, Alexandre Berube, Pierre Zakrzewska, Magdalena Zakrzewski, Krzystof Liberski, Pawel P. Dong, Zhifeng Siegel, Peter Duchaine, Thomas Perotti, Christian Fleming, Adam Faury, Damien Remke, Marc Gallo, Marco Dirks, Peter Taylor, Michael D. Sladek, Robert Pastinen, Tomi Chan, Jennifer A. Huang, Annie Majewski, Jacek Jabado, Nada
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001-es BibID:	BIBFORM096045
035-os BibID:	(cikkazonosító)1749 (WoS)000631928500006 (Scopus)85102687135
Első szerző:	Skowron, Patryk
Cím:	The transcriptional landscape of Shh medulloblastoma / Patryk Skowron, Hamza Farooq, Florence M. G. Cavalli1, A. Sorana Morrissy, Michelle Ly, Liam D. Hendrikse, Evan Y. Wang, Haig Djambazian, Helen Zhu, Karen L. Mungall, Quang M. Trinh, Tina Zheng, Shizhong Dai, Ana S. Guerreiro Stucklin, Maria C. Vladoiu, Vernon Fong, Borja L. Holgado, Carolina Nor, Xiaochong Wu, Diala Abd-Rabbo, Pierre Bérubé, Yu Chang Wang, Betty Luu, Raul A. Suarez, Avesta Rastan, Aaron H. Gillmor, John J. Y. Lee, Xiao Yun Zhang, Craig Daniels, Peter Dirks, David Malkin, Eric Bouffet, Uri Tabori, James Loukides, François P. Doz, Franck Bourdeaut, Olivier O. Delattre, Julien Masliah-Planchon, Olivier Ayrault, Seung-Ki Kim, David Meyronet, Wieslawa A. Grajkowska, Carlos G. Carlotti, Carmen de Torres, Jaume Mora, Charles G. Eberhart, Erwin G. Van Meir, Toshihiro Kumabe, Pim J. French, Johan M. Kros, Nada Jabado, Boleslaw Lach, Ian F. Pollack, Ronald L. Hamilton, Amulya A. Nageswara Rao, Caterina Giannini, James M. Olson, László Bognár, Almos Klekner, Karel Zitterbart, Joanna J. Phillips, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Linda M. Liau, Miklós Garami, Peter Hauser, Kay Ka Wai Li, Ho-Keung Ng, Wai Sang Poon, G. Yancey Gillespie, Jennifer A. Chan, Shin Jung, Roger E. McLendon, Eric M. Thompson, David Zagzag, Rajeev Vibhakar, Young Shin Ra, Maria Luisa Garre, Ulrich Schüller, Tomoko Shofuda, Claudia C. Faria, Enrique López-Aguilar, Gelareh Zadeh, Chi-Chung Hui, Vijay Ramaswamy, Swneke D. Bailey, Steven J. Jones, Andrew J. Mungall, Richard A. Moore, John A. Calarco, Lincoln D. Stein, Gary D. Bader, Jüri Reimand, Jiannis Ragoussis, William A. Weiss, Marco A. Marra, Hiromichi Suzuki, Michael D. Taylor
Dátum:	2021
ISSN:	2041-1723
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Nature Communications. - 12 : 1 (2021), p. 1-17. -
További szerzők:	Farooq, Hamza Cavalli, Florence M. G. Morrissy, 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 Berube, 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 Masliah-Planchon, Julien Ayrault, Olivier Kim, Seung-Ki Meyronet, David Grajkowska, Wieslawa A. Carlotti, Carlos G. Torres, Carmen, de 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 (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) 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 Shin Ra, Young Garre, Maria Luisa Schüller, Ulrich Shofuda, Tomoko Faria, Claudia C. Lopez-Aguilar, Enrique Zadeh, Gelareh Hui, Chi-chung Ramaswamy, Vijay Bailey, Swneke D. Jones, Steven J. M. Mungall, Andrew J. Moore, Richard A. Calarco, John A. Stein, Lincoln Bader, Gary D. Reimand, Jüri Ragoussis, Jiannis Weiss, William A. Marra, Marco A. Suzuki, Hiromichi Taylor, Michael D.
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