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1.
001-es BibID:
BIBFORM062336
Első szerző:
Fontebasso, Adam M.
Cím:
Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age / Adam M. Fontebasso, Margret Shirinian, Dong-Anh Khuong-Quang, Denise Bechet, Tenzin Gayden, Marcel Kool, Nicolas De Jay, Karine Jacob, Noha Gerges, Barbara Hutter, Huriye Şeker-Cin, Hendrik Witt, Alexandre Montpetit, Sébastien Brunet, Pierre Lepage, Geneviève Bourret, Almos Klekner, László Bognár, Peter Hauser, Miklós Garami, Jean-Pierre Farmer, Jose-Luis Montes, Jeffrey Atkinson, Sally Lambert, Tony Kwan, Andrey Korshunov, Uri Tabori, V. Peter Collins, Steffen Albrecht, Damien Faury, Stefan M. Pfister, Werner Paulus, Martin Hasselblatt, David T. W. Jones, Nada Jabado
Dátum:
2015
ISSN:
1949-2553
Megjegyzések:
Pilocytic astrocytoma (PA) is the most common brain tumor in children but israre in adults, and hence poorly studied in this age group. We investigated 222 PA andreport increased aneuploidy in older patients. Aneuploid genomes were identified in45% of adult compared with 17% of pediatric PA. Gains were non-random, favoringchromosomes 5, 7, 6 and 11 in order of frequency, and preferentially affecting noncerebellarPA and tumors with BRAF V600E mutations and not with KIAA1549-BRAFfusions or FGFR1 mutations. Aneuploid PA differentially expressed genes involved inCNS development, the unfolded protein response, and regulators of genomic stabilityand the cell cycle (MDM2, PLK2), whose correlated programs were overexpressedspecifically in aneuploid PA compared to other glial tumors. Thus, convergence of pathways affecting the cell cycle and genomic stability may favor aneuploidy in PA, possiblyrepresenting an additional molecular driver in older patients with this brain tumor.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
pilocytic astrocytoma
aneuploidy
BRAF
MDM2
PLK2
Megjelenés:
Oncotarget. - 6 : 31 (2015), p. 31844-31856. -
További szerzők:
Shirinian, Margret
Khuong-Quang, Dong-Anh
Bechet, Denise
Gayden, Tenzin
Kool, Marcel
De Jay, Nicolas
Jacob, Karine
Gerges, Noha
Hutter, Barbara
Şeker-Cin, Huriye
Witt, Hendrik
Montpetit, Alexandre
Brunet, Sébastien
Lepage, Pierre
Bourret, Geneviève
Klekner Álmos (1970-) (idegsebész)
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Hauser Péter
Garami Miklós
Farmer, Jean-Pierre
Montes, Jose-Luis
Atkinson, Jeffrey
Lambert, Sally
Kwan, Tony
Korshunov, Andrey
Tabori, Uri
Collins, V. Peter
Albrecht, Stephen
Faury, Damien
Pfister, Stefan M.
Paulus, Werner
Hasselblatt, Martin
Jones, David T. W.
Jabado, Nada
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
2.
001-es BibID:
BIBFORM058402
Első szerző:
Fontebasso, Adam M.
Cím:
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas / Adam M. Fontebasso, Jeremy Schwartzentruber, Dong-Anh Khuong-Quang, Xiao-Yang Liu, Dominik Sturm, Andrey Korshunov, David T. W. Jones, Hendrik Witt, Marcel Kool, Steffen Albrecht, Adam Fleming, Djihad Hadjadj, Stephan Busche, Pierre Lepage, Alexandre Montpetit, Alfredo Staffa, Noha Gerges, Magdalena Zakrzewska, Krzystof Zakrzewski, Pawel P. Liberski, Peter Hauser, Miklos Garami, Almos Klekner, Laszlo Bognar, Gelareh Zadeh, Damien Faury, Stefan M. Pfister, Nada Jabado, Jacek Majewski
Dátum:
2013
ISSN:
0001-6322
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:
Acta Neuropathologica. - 125 : 5 (2013), p. 659-669. -
További szerzők:
Schwartzentruber, Jeremy
Khuong-Quang, Dong-Anh
Liu, Xiao-Yang
Sturm, Dominik
Korshunov, Andrey
Jones, David T. W.
Witt, Hendrik
Kool, Marcel
Albrecht, Stephen
Fleming, Adam
Hadjadj, Djihad
Busche, Stephan
Lepage, Pierre
Montpetit, Alexandre
Staffa, Alfredo
Gerges, Noha
Zakrzewska, Magdalena
Zakrzewski, Krzystof
Liberski, Pawel P.
Hauser, Peter
Garami Miklós
Klekner Álmos (1970-) (idegsebész)
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Zadeh, Gelareh
Faury, Damien
Pfister, Stefan M.
Jabado, Nada
Majewski, Jacek
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
3.
001-es BibID:
BIBFORM052711
035-os BibID:
WOS:000335422900012
Első szerző:
Fontebasso, Adam M.
Cím:
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma / Adam M. Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, Hamid Nikbakht, Noha Gerges, Pierre-Olivier Fiset, Denise Bechet, Damien Faury, Nicolas De Jay, Lori A. Ramkissoon, Aoife Corcoran, David T. W. Jones, Dominik Sturm, Pascal Johann, Tadanori Tomita, Stewart Goldman, Mahmoud Nagib, Anne Bendel, Liliana Goumnerova, Daniel C. Bowers, Jeffrey R. Leonard, Joshua B. Rubin, Tord Alden, Samuel Browd, J. Russell Geyer, Sarah Leary, George Jallo, Kenneth Cohen, Nalin Gupta, Michael D. Prados, Anne-Sophie Carret, Benjamin Ellezam, Louis Crevier, Almos Klekner, Laszlo Bognar, Peter Hauser, Miklos Garami, John Myseros, Zhifeng Dong, Peter M. Siegel, Hayley Malkin, Azra H. Ligon, Steffen Albrecht, Stefan M. Pfister, Keith L. Ligon, Jacek Majewski, Nada Jabado, Mark W. Kieran
Dátum:
2014
ISSN:
1061-4036
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:
Nature Genetics. - 46 : 5 (2014), p. 462-466. -
További szerzők:
Papillon-Cavanagh, Simon
Schwartzentruber, Jeremy
Nikbakht, Hamid
Gerges, Noha
Fiset, Pierre-Olivier
Bechet, Denise
Faury, Damien
De Jay, Nicolas
Ramkissoon, Lori A.
Corcoran, Aoife
Jones, David T. W.
Sturm, Dominik
Johann, Pascal
Tomita, Tadanori
Goldman, Stewart
Nagib, Mahmoud
Bendel, Anne
Goumnerova, Liliana
Bowers, Daniel C.
Leonard, Jeffrey R.
Rubin, Joshua B.
Alden, Tord
Browd, Samuel
Geyer, J. Russell
Leary, Sarah
Jallo, George I.
Cohen, Kenneth
Gupta, Nalin
Prados, Michael D.
Carret, Anne-Sophie
Ellezam, Benjamin
Crevier, Louis
Klekner Álmos (1970-) (idegsebész)
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Hauser Péter
Garami Miklós
Myseros, John
Dong, Zhifeng
Siegel, Peter
Malkin, Hayley
Ligon, Azra H.
Albrecht, Stephen
Pfister, Stefan M.
Ligon, Keith L.
Majewski, Jacek
Jabado, Nada
Kieran, Mark W.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
4.
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
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
5.
001-es BibID:
BIBFORM040478
Első szerző:
Northcott, Paul A.
Cím:
Subgroup-specific structural variation across 1,000 medulloblastoma genomes / Paul A. Northcott, David J. H. Shih, John Peacock, Livia Garzia, A. Sorana Morrissy, Thomas Zichner, Adrian M. Stütz, Andrey Korshunov, Jüri Reimand, Steven E. Schumacher, Rameen Beroukhim, David W. Ellison, Christian R. Marshall, Anath C. Lionel, Stephen Mack, Adrian Dubuc, Yuan Yao, Vijay Ramaswamy, Betty Luu, Adi Rolider, Florence M. G. Cavalli, Xin Wang, Marc Remke, Xiaochong Wu, Readman Y. B. Chiu, Andy Chu, Eric Chuah, Richard D. Corbett, Gemma R. Hoad, Shaun D. Jackman, Yisu Li, Allan Lo, Karen L. Mungall, Ka Ming Nip, Jenny Q. Qian, Anthony G. J. Raymond, Nina Thiessen, Richard J. Varhol, Inanc Birol, Richard A. Moore, Andrew J. Mungall, Robert Holt, Daisuke Kawauchi, Martine F. Roussel, Marcel Kool, David T. W. Jones, Hendrick Witt, Africa Fernandez-L, Anna M. Kenney, Robert J. Wechsler-Reya, Peter Dirks, Tzvi Aviv, Wieslawa A. Grajkowska, Marta Perek-Polnik, Christine C. Haberler, Olivier Delattre, Stéphanie S. Reynaud, François F. Doz, Sarah S. Pernet-Fattet, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Wolfram Scheurlen, Charles G. Eberhart, Michelle Févre-Montange, Anne Jouvet, Ian F. Pollack, Xing Fan, Karin M. Muraszko, G. Yancey Gillespie, Concezio Di Rocco, Luca Massimi, Erna M. C. Michiels, Nanne K. Kloosterhof, Pim J. French, Johan M. Kros, James M. Olson, Richard G. Ellenbogen, Karel Zitterbart, Leos Kren, Reid C. Thompson, Michael K. Cooper, Boleslaw Lach, Roger E. McLendon, Darell D. Bigner, Adam Fontebasso, Steffen Albrecht, Nada Jabado, Janet C. Lindsey, Simon Bailey, Nalin Gupta, William A. Weiss, László Bognár, Almos Klekner, Timothy E. Van Meter, Toshihiro Kumabe, Teiji Tominaga, Samer K. Elbabaa, Jeffrey R. Leonard, Joshua B. Rubin, Linda M. Liau, Erwin G. Van Meir, Maryam Fouladi, Hideo Nakamura, Giuseppe Cinalli, Miklós Garami, Peter Hauser, Ali G. Saad, Achille Iolascon, Shin Jung, Carlos G. Carlotti, Rajeev Vibhakar, Young Shin Ra, Shenandoah Robinson, Massimo Zollo, Claudia C. Faria, Jennifer A. Chan, Michael L. Levy, Poul H. B. Sorensen, Matthew Meyerson, Scott L. Pomeroy, Yoon-Jae Cho, Gary D. Bader, Uri Tabori, Cynthia E. Hawkins, Eric Bouffet, Stephen W. Scherer, James T. Rutka, David Malkin, Steven C. Clifford, Steven J. M. Jones, Jan O. Korbe, Stefan M. Pfister, Marco A. Marra, Michael D. Taylor
Dátum:
2012
ISSN:
0028-0836
Megjegyzések:
Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4?. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-? signalling in Group 3, and NF-?B signalling in Group 4, suggest future avenues for rational, targeted therapy.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
külföldön készült közlemény
Megjelenés:
Nature. - 488 : 7409 (2012), p. 49-56. -
További szerzők:
Shih, David J. H.
Peacock, John
Garzia, Livia
Sorana Morrissy, A.
Zichner, Thomas
Stütz, Adrian M.
Korshunov, Andrey
Reimand, Jüri
Schumacher, Steven E.
Beroukhim, Rameen
Ellison, David W.
Marshall, Christian R.
Lionel, Anath C.
Mack, Stephen
Dubuc, Adrian
Yao, Yuan
Ramaswamy, Vijay
Luu, Betty
Rolider, Adi
Cavalli, Florence M. G.
Wang, Xin
Remke, Marc
Wu, Xiaochong
Chiu, Readman Y. B.
Chu, Andy
Chuah, Eric
Corbett, Richard D.
Hoad, Gemma R.
Jackman, Shaun D.
Li, Yisu
Lo, Allan
Mungall, Karen L.
Ming Nip, Ka
Qian, Jenny Q.
Raymond, Anthony G. J.
Thiessen, Nina
Varhol, Richard J.
Birol, Inanc
Moore, Richard A.
Mungall, Andrew J.
Holt, Robert
Kawauchi, Daisuke
Roussel, Martine F.
Kool, Marcel
Jones, David T. W.
Witt, Hendrik
Fernandez-L, Africa
Kenney, Anna M.
Wechsler-Reya, Robert J.
Dirks, Peter
Aviv, Tzvi
Grajkowska, Wieslawa A.
Perek-Polnik, Marta
Haberler, Christine
Delattre, Olivier
Reynaud, Stéphanie S.
Doz, François F.
Pernet-Fattet, Sarah S.
Cho, Byung-Kyu
Kim, Seung-Ki
Wang, Kyu-Chang
Scheurlen, Wolfram
Eberhart, Charles G.
Fèvre-Montange, Michelle
Jouvet, Anne
Pollack, Ian F.
Fan, Xing
Muraszko, Karin M.
Yancey Gillespie, G.
Di Rocco, Concezio
Massimi, Luca
Michiels, Erna M. C.
Kloosterhof, Nanne K.
French, Pim J.
Kros, Johan M.
Olson, James M.
Ellenbogen, Richard G.
Zitterbart, Karel
Kren, Leos
Thompson, Reid C.
Cooper, Michael K.
Lach, Boleslaw
McLendon, Roger E.
Bigner, Darell
Fontebasso, Adam M.
Albrecht, Stephen
Jabado, Nada
Lindsey, Janet C.
Bailey, Simon
Gupta, Nalin
Weiss, William A.
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Klekner Álmos (1970-) (idegsebész)
van Meter, Timothy E.
Kumabe, Toshihiro
Tominaga, Teiji
Elbabaa, Samer K.
Leonard, Jeffrey R.
Rubin, Joshua B.
Liau, Linda M.
van Meir, Erwin G.
Fouladi, Maryam
Nakamura, Hideo
Cinalli, Giuseppe
Garami Miklós
Hauser, Peter
Saad, Ali G.
Iolascon, Achille
Jung, Shin
Carlotti, Carlos G.
Vibhakar, Rajeev
Shin Ra, Young
Robinson, Shenandoah
Zollo, Massimo
Faria, Claudia C.
Chan, Jennifer A.
Levy, Michael L.
Sorensen, Poul H. B.
Meyerson, Matthew
Pomeroy, Scott L.
Cho, Yoon-Jae
Bader, Gary D.
Tabori, Uri
Hawkins, Cynthia E.
Bouffet, Eric
Scherer, Stephen W.
Rutka, James T.
Malkin, David
Clifford, Steven C.
Jones, Steven J. M.
Korbe, Jan O.
Pfister, Stefan M.
Marra, Marco A.
Taylor, Michael D.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
6.
001-es BibID:
BIBFORM040150
Első szerző:
Schwartzentruber, Jeremy
Cím:
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma / Schwartzentruber Jeremy, Korshunov Andrey, Liu Xiao-Yang, Jones David T. W. Pfaff Elke, Jacob Karine, Sturm Dominik, Fontebasso Adam M., Quang Dong-Anh Khuong, Tönjes Martje, Hovestadt Volker, Albrecht Steffen, Kool Marcel, Nantel Andre, Konermann Carolin, Lindroth Anders, Jäger Natalie, Rausch Tobias, Ryzhova Marina, Korbel Jan O., Hielscher Thomas, Hauser Peter, Garami Miklos, Klekner Almos, Bognar Laszlo, Ebinger Martin, Schuhmann Martin U., Scheurlen Wolfram, Pekrun Arnulf, Frühwald Michael C., Roggendorf Wolfgang, Kramm Christoph, Dürken Matthias, Atkinson Jeffrey, Lepage Pierre, Montpetit Alexandre, Zakrzewska Magdalena, Zakrzewski Krzystof, Liberski Pawel P., Dong Zhifeng, Siegel Peter, Kulozik Andreas E., Zapatka Marc, Guha Abhijit, Malkin David, Felsberg Jörg, Reifenberger Guido, von Deimling Andreas, Ichimura Koichi, Collins V. Peter, Witt Hendrik, Milde Till, Witt Olaf, Zhang Cindy, Castelo-Branco Pedro, Lichter Peter, Faury Damien, Tabori Uri, Plass Christoph, Majewski Jacek, Pfister Stefan M., Jabado Nada
Dátum:
2012
ISSN:
0028-0836
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
levél
Megjelenés:
Nature. - 482 : 7384 (2012), p. 226-231. -
További szerzők:
Korshunov, Andrey
Liu, Xiao-Yang
Jones, David T. W.
Pfaff, Elke
Jacob, Karine
Sturm, Dominik
Fontebasso, Adam M.
Quang, Dong-Anh Khuong
Tönjes, Martje
Hovestadt, Volker
Albrecht, Stephen
Kool, Marcel
Nantel, André
Konermann, Carolin
Lindroth, Anders
Jäger, Natalie
Rausch, Tobias
Ryzhova, Marina
Korbe, Jan O.
Hielscher, Thomas
Hauser, Peter
Garami Miklós
Klekner Álmos (1970-) (idegsebész)
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Ebinger, Martin
Schuhmann, Martin U.
Scheurlen, Wolfram
Pekrun, Arnulf
Frühwald, Michael C.
Roggendorf, Wolfgang
Kramm, Christoph
Dürken, Matthias
Atkinson, Jeffrey
Lepage, Pierre
Montpetit, Alexandre
Zakrzewska, Magdalena
Zakrzewski, Krzystof
Liberski, Pawel P.
Dong, Zhifeng
Siegel, Peter
Kulozik, Andreas E.
Zapatka, Marc
Guha, Abhijit
Malkin, David
Felsberg, Jörg
Reifenberger, Guido
von Deimling, Andreas
Ichimura, Koichi
Collins, V. Peter
Witt, Hendrik
Milde, Till
Witt, Olaf
Zhang, Cindy
Castelo-Branco, Pedro
Lichter, Peter
Faury, Damien
Tabori, Uri
Plass, Christoph
Majewski, Jacek
Pfister, Stefan M.
Jabado, Nada
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
7.
001-es BibID:
BIBFORM052715
Első szerző:
Shih, David J. H.
Cím:
Cytogenetic prognostication within medulloblastoma subgroups / David J. H. Shih, Paul A. Northcott, Marc Remke, Andrey Korshunov, Vijay Ramaswamy, Marcel Kool, Betty Luu, Yuan Yao, Xin Wang, Adrian M. Dubuc, Livia Garzia, John Peacock, Stephen C. Mack, Xiaochong Wu, Adi Rolider, A. Sorana Morrissy, Florence M. G. Cavalli, David T. W. Jones, Karel Zitterbart, Claudia C. Faria, Ulrich Schüller, Leos Kren, Toshihiro Kumabe, Teiji Tominaga, Young Shin Ra, Miklós Garami, Peter Hauser, Jennifer A. Chan, Shenandoah Robinson, László Bognár, Almos Klekner, Ali G. Saad, Linda M. Liau, Steffen Albrecht, Adam Fontebasso, Giuseppe Cinalli, Pasqualino De Antonellis, Massimo Zollo, Michael K. Cooper, Reid C. Thompson, Simon Bailey, Janet C. Lindsey, Concezio Di Rocco, Luca Massimi, Erna M. C. Michiels, Stephen W. Scherer, Joanna J. Phillips, Nalin Gupta, Xing Fan, Karin M. Muraszko, Rajeev Vibhakar, Charles G. Eberhart, Maryam Fouladi, Boleslaw Lach, Shin Jung, Robert J. Wechsler-Reya, Michelle Fèvre-Montange, Anne Jouvet, Nada Jabado, Ian F. Pollack, William A. Weiss, Ji-Yeoun Lee, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Jeffrey R. Leonard, Joshua B. Rubin, Carmen de Torres, Cinzia Lavarino, Jaume Mora, Yoon-Jae Cho, Uri Tabori, James M. Olson, Amar Gajjar, Roger J. Packer, Stefan Rutkowski, Scott L. Pomeroy, Pim J. French, Nanne K. Kloosterhof, Johan M. Kros, Erwin G. Van Meir, Steven C. Clifford, Franck Bourdeaut, Olivier Delattre, François F. Doz, Cynthia E. Hawkins, David Malkin, Wieslawa A. Grajkowska, Marta Perek-Polnik, Eric Bouffet, James T. Rutka, Stefan M. Pfister, Michael D. Taylor
Dátum:
2014
ISSN:
0732-183X 1527-7755
Megjegyzések:
Purpose Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication.Patients and Methods Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models.Results Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas.Conclusion Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:
Journal of Clinical Oncology. - 32 : 9 (2014), p. 886-896. -
További szerzők:
Northcott, Paul A.
Remke, Marc
Korshunov, Andrey
Ramaswamy, Vijay
Kool, Marcel
Luu, Betty
Yao, Yuan
Wang, Xin
Dubuc, Adrian
Garzia, Livia
Peacock, John
Mack, Stephen
Wu, Xiaochong
Rolider, Adi
Morrissy, Sorana
Cavalli, Florence M. G.
Jones, David T. W.
Zitterbart, Karel
Faria, Claudia C.
Schüller, Ulrich
Kren, Leos
Kumabe, Toshihiro
Tominaga, Teiji
Shin Ra, Young
Garami Miklós
Hauser, Peter
Chan, Jennifer A.
Robinson, Shenandoah
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Klekner Álmos (1970-) (idegsebész)
Saad, Ali G.
Liau, Linda M.
Albrecht, Stephen
Fontebasso, Adam M.
Cinalli, Giuseppe
De Antonellis, Pasqualino
Zollo, Massimo
Cooper, Michael K.
Thompson, Reid C.
Bailey, Simon
Lindsey, Janet C.
Di Rocco, Concezio
Massimi, Luca
Michiels, Erna M. C.
Scherer, Stephen W.
Phillips, Joanna J.
Gupta, Nalin
Fan, Xing
Muraszko, Karin M.
Vibhakar, Rajeev
Eberhart, Charles G.
Fouladi, Maryam
Lach, Boleslaw
Jung, Shin
Wechsler-Reya, Robert J.
Fèvre-Montange, Michelle
Jouvet, Anne
Jabado, Nada
Pollack, Ian F.
Weiss, William A.
Lee, Ji-Yeoun
Cho, Byung-Kyu
Kim, Seung-Ki
Wang, Kyu-Chang
Leonard, Jeffrey R.
Rubin, Joshua B.
Torres, Carmen, de
Lavarino, Cinzia
Mora, Jaume
Cho, Yoon-Jae
Tabori, Uri
Olson, James M.
Gajjar, Amar
Packer, Roger J.
Rutkowski, Stefan
Pomeroy, Scott L.
French, Pim J.
Kloosterhof, Nanne K.
Kros, Johan M.
van Meir, Erwin G.
Clifford, Steven C.
Bourdeaut, Franck
Delattre, Olivier
Doz, François F.
Hawkins, Cynthia E.
Malkin, David
Grajkowska, Wieslawa A.
Perek-Polnik, Marta
Bouffet, Eric
Rutka, James T.
Pfister, Stefan M.
Taylor, Michael D.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
8.
001-es BibID:
BIBFORM040477
Első szerző:
Sturm, Dominik
Cím:
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma / Dominik Sturm, Hendrik Witt, Volker Hovestadt, Dong-Anh Khuong-Quang, David T. W. Jones, Carolin Konermann, Elke Pfaff, Martje Tönjes, Martin Sill, Sebastian Bender, Marcel Kool, Marc Zapatka, Natalia Becker, Manuela Zucknick, Thomas Hielscher, Xiao-Yang Liu, Adam M. Fontebasso, Marina Ryzhova, Steffen Albrecht, Karine Jacob, Marietta Wolter, Martin Ebinger, Martin U. Schuhmann, Timothy van Meter, Michael C. Frühwald, Holger Hauch, Arnulf Pekrun, Bernhard Radlwimmer, Tim Niehues, Gregor von Komorowski, Matthias Dürken, Andreas E. Kulozik, Jenny Madden, Andrew Donson, Nicholas K. Foreman, Rachid Drissi, Maryam Fouladi, Wolfram Scheurlen, Andreas von Deimling, Camelia Monoranu, Wolfgang Roggendorf, Christel Herold-Mende, Andreas Unterberg, Christof M. Kramm, Jörg Felsberg, Christian Hartmann, Benedikt Wiestler, Wolfgang Wick, Till Milde, Olaf Witt, Anders M. Lindroth, Jeremy Schwartzentruber, Damien Faury, Adam Fleming, Magdalena Zakrzewska, Pawel P. Liberski, Krzysztof Zakrzewski, Peter Hauser, Miklos Garami, Almos Klekner, Laszlo Bognar, Sorana Morrissy, Florence Cavalli, Michael D. Taylor, Peter van Sluis, Jan Koster, Rogier Versteeg, Richard Volckmann, Tom Mikkelsen, Kenneth Aldape, Guido Reifenberger, V. Peter Collins, Jacek Majewski, Andrey Korshunov, Peter Lichter, Christoph Plass, Nada Jabado, Stefan M. Pfister
Dátum:
2012
ISSN:
1535-6108
Megjegyzések:
Glioblastoma (GBM) is a brain tumor that carries a dismal prognosis and displays considerable heterogeneity. We have recently identified recurrent H3F3A mutations affecting two critical amino acids (K27 and G34) of histone H3.3 in one-third of pediatric GBM. Here, we show that each H3F3A mutation defines an epigenetic subgroup of GBM with a distinct global methylation pattern, and that they are mutually exclusive with IDH1 mutations, which characterize a third mutation-defined subgroup. Three further epigenetic subgroups were enriched for hallmark genetic events of adult GBM and/or established transcriptomic signatures. We also demonstrate that the two H3F3A mutations give rise to GBMs in separate anatomic compartments, with differential regulation of transcription factors OLIG1, OLIG2, and FOXG1, possibly reflecting different cellular origins.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
külföldön készült közlemény
Megjelenés:
Cancer Cell. - 22 : 4 (2012), p. 425-437. -
További szerzők:
Witt, Hendrik
Hovestadt, Volker
Khuong-Quang, Dong-Anh
Jones, David T. W.
Konermann, Carolin
Pfaff, Elke
Tönjes, Martje
Sill, Martin
Bender, Sebastian
Kool, Marcel
Zapatka, Marc
Becker, Natalia
Zucknick, Manuela
Hielscher, Thomas
Liu, Xiao-Yang
Fontebasso, Adam M.
Ryzhova, Marina
Albrecht, Stephen
Jacob, Karine
Wolter, Marietta
Ebinger, Martin
Schuhmann, Martin U.
van Meter, Timothy E.
Frühwald, Michael C.
Hauch, Holger
Pekrun, Arnulf
Radlwimmer, Bernhard
Niehues, Tim
von Komorowski, Gregor
Dürken, Matthias
Kulozik, Andreas E.
Madden, Jenny
Donson, Andrew
Foreman, Nicholas K.
Drissi, Rachid
Fouladi, Maryam
Scheurlen, Wolfram
von Deimling, Andreas
Monoranu, Camelia
Roggendorf, Wolfgang
Herold-Mende, Christel
Unterberg, Andreas
Kramm, Christoph
Felsberg, Jörg
Hartmann, Christian
Wiestler, Benedikt
Wick, Wolfgang
Milde, Till
Witt, Olaf
Lindroth, Anders
Schwartzentruber, Jeremy
Faury, Damien
Fleming, Adam
Zakrzewska, Magdalena
Liberski, Pawel P.
Zakrzewski, Krzystof
Hauser Péter
Garami Miklós
Klekner Álmos (1970-) (idegsebész)
Bognár László (1958-) (idegsebész, gyermekidegsebész)
Morrissy, Sorana
Cavalli, Florence
Taylor, Michael D.
van Sluis, Peter
Koster, Jan
Versteeg, Rogier
Volckmann, Richard
Mikkelsen, Tom
Aldape, Kenneth
Reifenberger, Guido
Collins, V. Peter
Majewski, Jacek
Korshunov, Andrey
Lichter, Peter
Plass, Christoph
Jabado, Nada
Pfister, Stefan M.
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DOI
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