| HENDRIKSE, Liam D, Parthiv HALDIPUR, Olivier SAULNIER, Jake MILLMAN, Alexandria H SJOBOEN, Anders W ERICKSON, Winnie ONG, Victor GORDON, Ludivine COUDIERE-MORRISON, Audrey L MERCIER, Mohammad SHOKOUHIAN, Raul A SUAREZ, Michelle LY, Stephanie BORLASE, David S SCOTT, Maria C VLADOIU, Hamza FAROOQ, Olga SIRBU, Takuma NAKASHIMA, Shohei NAMBU, Yusuke FUNAKOSHI, Alec BAHCHELI, J Javier DIAZ-MEJIA, Joseph GOLSER, Kathleen BACH, Tram PHUONG-BAO, Patryk SKOWRON, Evan Y WANG, Sachin A KUMAR, Polina BALIN, Abhirami VISVANATHAN, John J Y LEE, Ramy AYOUB, Xin CHEN, Xiaodi CHEN, Karen L MUNGALL, Betty LUU, Pierre BERUBE, Yu C WANG, Stefan M PFISTER, Seung-Ki KIM, Olivier DELATTRE, Franck BOURDEAUT, Francois DOZ, Julien MASLIAH-PLANCHON, Wieslawa A GRAJKOWSKA, James LOUKIDES, Peter DIRKS, Michelle FEVRE-MONTANGE, Anne JOUVET, Pim J FRENCH, Johan M KROS, Karel ZITTERBART, Swneke D BAILEY, Charles G EBERHART, Amulya A N RAO, Caterina GIANNINI, James M OLSON, Miklos GARAMI, Peter HAUSER, Joanna J PHILLIPS, Young S RA, de Torres CARMEN, Jaume MORA, Kay K W LI, Ho-Keung NG, Wai S POON, Ian F POLLACK, Enrique LOPEZ-AGUILAR, G Yancey GILLESPIE, E. VAN METER TIMOTHY, Tomoko SHOFUDA, Rajeev VIBHAKAR, Reid C THOMPSON, Michael K COOPER, Joshua B RUBIN, Toshihiro KUMABE, Shin JUNG, Boleslaw LACH, Achille LOLASCON, Veronica FERRUCCI, de Antonellis PASQUALINO, Massimo ZOLLO, Giuseppe CINALLI, Shenandoah ROBINSON, Duncan S STEARNS, G. VAN MEIR ERWIN, Paola PORRATI, Gaetano FINOCCHIARO, Maura MASSIMINO, Carlos G CARLOTTI, Claudia C FARIA, Martine F ROUSSEL, Frederick BOOP, Jennifer A CHAN, Kimberly A ALDINGER, Ferechte RAZAVI, Evelina SILVESTRI, Roger E MCLENDON, Eric M THOMPSON, Marc ANSARI, Maria L GARRE, Fernando CHICO, Pilar EGUIA, Mario PEREZPENA, A Sorana MORRISSY, Florence M G CAVALLI, Xiaochong WU, Craig DANIELS, Jeremy N RICH, Steven J M JONES, Richard A MOORE, Marco A MARRA, Xi HUANG, Juri REIMAND, Poul H SORENSEN, Robert J WECHSLER-REYA, William A WEISS, Trevor J PUGH, Livia GARZIA, Claudia L KLEINMAN, Lincoln D STEIN, Nada JABADO, David MALKIN, Olivier AYRAULT, Jeffrey A GOLDEN, David W ELLISON, Brad DOBLE, Vijay RAMASWAMY, Tamra E WERBOWETSKI-OGILVIE, Hiromichi SUZUKI, Kathleen J MILLEN a Michael D TAYLOR. Failure of human rhombic lip differentiation underlies medulloblastoma formation. Nature. Berlin: NATURE PUBLISHING GROUP, 2022, roč. 609, č. 7929, s. "1021"-"+", 35 s. ISSN 0028-0836. Dostupné z: https://dx.doi.org/10.1038/s41586-022-05215-w. |
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@article{2251517,
author = {Hendrikse, Liam D and Haldipur, Parthiv and Saulnier, Olivier and Millman, Jake and Sjoboen, Alexandria H and Erickson, Anders W and Ong, Winnie and Gordon, Victor and CoudiereandMorrison, Ludivine and Mercier, Audrey L and Shokouhian, Mohammad and Suarez, Raul A and Ly, Michelle and Borlase, Stephanie and Scott, David S and Vladoiu, Maria C and Farooq, Hamza and Sirbu, Olga and Nakashima, Takuma and Nambu, Shohei and Funakoshi, Yusuke and Bahcheli, Alec and DiazandMejia, J Javier and Golser, Joseph and Bach, Kathleen and PhuongandBao, Tram and Skowron, Patryk and Wang, Evan Y and Kumar, Sachin A and Balin, Polina and Visvanathan, Abhirami and Lee, John J Y and Ayoub, Ramy and Chen, Xin and Chen, Xiaodi and Mungall, Karen L and Luu, Betty and Berube, Pierre and Wang, Yu C and Pfister, Stefan M and Kim, SeungandKi and Delattre, Olivier and Bourdeaut, Franck and Doz, Francois and MasliahandPlanchon, Julien and Grajkowska, Wieslawa A and Loukides, James and Dirks, Peter and FevreandMontange, Michelle and Jouvet, Anne and French, Pim J and Kros, Johan M and Zitterbart, Karel and Bailey, Swneke D and Eberhart, Charles G and Rao, Amulya A N and Giannini, Caterina and Olson, James M and Garami, Miklos and Hauser, Peter and Phillips, Joanna J and Ra, Young S and Carmen, de Torres and Mora, Jaume and Li, Kay K W and Ng, HoandKeung and Poon, Wai S and Pollack, Ian F and LopezandAguilar, Enrique and Gillespie, G Yancey and Van Meter Timothy, E. and Shofuda, Tomoko and Vibhakar, Rajeev and Thompson, Reid C and Cooper, Michael K and Rubin, Joshua B and Kumabe, Toshihiro and Jung, Shin and Lach, Boleslaw and Lolascon, Achille and Ferrucci, Veronica and Pasqualino, de Antonellis and Zollo, Massimo and Cinalli, Giuseppe and Robinson, Shenandoah and Stearns, Duncan S and Van Meir Erwin, G. and Porrati, Paola and Finocchiaro, Gaetano and Massimino, Maura and Carlotti, Carlos G and Faria, Claudia C and Roussel, Martine F and Boop, Frederick and Chan, Jennifer A and Aldinger, Kimberly A and Razavi, Ferechte and Silvestri, Evelina and McLendon, Roger E and Thompson, Eric M and Ansari, Marc and Garre, Maria L and Chico, Fernando and Eguia, Pilar and Perezpena, Mario and Morrissy, A Sorana and Cavalli, Florence M G and Wu, Xiaochong and Daniels, Craig and Rich, Jeremy N and Jones, Steven J M and Moore, Richard A and Marra, Marco A and Huang, Xi and Reimand, Juri and Sorensen, Poul H and WechslerandReya, Robert J and Weiss, William A and Pugh, Trevor J and Garzia, Livia and Kleinman, Claudia L and Stein, Lincoln D and Jabado, Nada and Malkin, David and Ayrault, Olivier and Golden, Jeffrey A and Ellison, David W and Doble, Brad and Ramaswamy, Vijay and WerbowetskiandOgilvie, Tamra E and Suzuki, Hiromichi and Millen, Kathleen J and Taylor, Michael D},
article_location = {Berlin},
article_number = {7929},
doi = {http://dx.doi.org/10.1038/s41586-022-05215-w},
keywords = {human rhombic lip; failure; medulloblastoma formation},
language = {eng},
issn = {0028-0836},
journal = {Nature},
title = {Failure of human rhombic lip differentiation underlies medulloblastoma formation},
url = {https://www.nature.com/articles/s41586-022-05215-w},
volume = {609},
year = {2022}
}
TY - JOUR
ID - 2251517
AU - Hendrikse, Liam D - Haldipur, Parthiv - Saulnier, Olivier - Millman, Jake - Sjoboen, Alexandria H - Erickson, Anders W - Ong, Winnie - Gordon, Victor - Coudiere-Morrison, Ludivine - Mercier, Audrey L - Shokouhian, Mohammad - Suarez, Raul A - Ly, Michelle - Borlase, Stephanie - Scott, David S - Vladoiu, Maria C - Farooq, Hamza - Sirbu, Olga - Nakashima, Takuma - Nambu, Shohei - Funakoshi, Yusuke - Bahcheli, Alec - Diaz-Mejia, J Javier - Golser, Joseph - Bach, Kathleen - Phuong-Bao, Tram - Skowron, Patryk - Wang, Evan Y - Kumar, Sachin A - Balin, Polina - Visvanathan, Abhirami - Lee, John J Y - Ayoub, Ramy - Chen, Xin - Chen, Xiaodi - Mungall, Karen L - Luu, Betty - Berube, Pierre - Wang, Yu C - Pfister, Stefan M - Kim, Seung-Ki - Delattre, Olivier - Bourdeaut, Franck - Doz, Francois - Masliah-Planchon, Julien - Grajkowska, Wieslawa A - Loukides, James - Dirks, Peter - Fevre-Montange, Michelle - Jouvet, Anne - French, Pim J - Kros, Johan M - Zitterbart, Karel - Bailey, Swneke D - Eberhart, Charles G - Rao, Amulya A N - Giannini, Caterina - Olson, James M - Garami, Miklos - Hauser, Peter - Phillips, Joanna J - Ra, Young S - Carmen, de Torres - Mora, Jaume - Li, Kay K W - Ng, Ho-Keung - Poon, Wai S - Pollack, Ian F - Lopez-Aguilar, Enrique - Gillespie, G Yancey - Van Meter Timothy, E. - Shofuda, Tomoko - Vibhakar, Rajeev - Thompson, Reid C - Cooper, Michael K - Rubin, Joshua B - Kumabe, Toshihiro - Jung, Shin - Lach, Boleslaw - Lolascon, Achille - Ferrucci, Veronica - Pasqualino, de Antonellis - Zollo, Massimo - Cinalli, Giuseppe - Robinson, Shenandoah - Stearns, Duncan S - Van Meir Erwin, G. - Porrati, Paola - Finocchiaro, Gaetano - Massimino, Maura - Carlotti, Carlos G - Faria, Claudia C - Roussel, Martine F - Boop, Frederick - Chan, Jennifer A - Aldinger, Kimberly A - Razavi, Ferechte - Silvestri, Evelina - McLendon, Roger E - Thompson, Eric M - Ansari, Marc - Garre, Maria L - Chico, Fernando - Eguia, Pilar - Perezpena, Mario - Morrissy, A Sorana - Cavalli, Florence M G - Wu, Xiaochong - Daniels, Craig - Rich, Jeremy N - Jones, Steven J M - Moore, Richard A - Marra, Marco A - Huang, Xi - Reimand, Juri - Sorensen, Poul H - Wechsler-Reya, Robert J - Weiss, William A - Pugh, Trevor J - Garzia, Livia - Kleinman, Claudia L - Stein, Lincoln D - Jabado, Nada - Malkin, David - Ayrault, Olivier - Golden, Jeffrey A - Ellison, David W - Doble, Brad - Ramaswamy, Vijay - Werbowetski-Ogilvie, Tamra E - Suzuki, Hiromichi - Millen, Kathleen J - Taylor, Michael D
PY - 2022
TI - Failure of human rhombic lip differentiation underlies medulloblastoma formation
JF - Nature
VL - 609
IS - 7929
SP - "1021"-"+"
EP - "1021"-"+"
PB - NATURE PUBLISHING GROUP
SN - 00280836
KW - human rhombic lip
KW - failure
KW - medulloblastoma formation
UR - https://www.nature.com/articles/s41586-022-05215-w
N2 - Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong linksto early development of the hindbrain(1-4). Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage(5-8). By contrast, mutationsthat activate WNT signalling lead to WNT MB in the lower RL9,10. However, little is known about the more commonly occurringgroup 4 (G4) MB, which isthought to arise in the unipolar brush cell lineage(3,4). Here we demonstrate that somatic mutationsthat cause G4 MB converge on the core binding factor alpha (CBFA) complex and mutually exclusive alterations that affect CBFA2T2, CBFA2T3, PRDM6, UTX and OTX2. CBFA2T2 is expressed early in the progenitor cells ofthe cerebellar RL subventricular zone in Homo sapiens, and G4 MB transcriptionally resembles these progenitors but are stalled in developmental time. Knockdown of OTX2in model systems relieves this differentiation blockade, which allows MB cellsto spontaneously proceed along normal developmental differentiation trajectories. The specific nature ofthe split human RL, which is destined togenerate most ofthe neurons in the human brain, and its high level of susceptible EOMES(+)K167(+) unipolar brush cell progenitor cells probably predisposes our speciesto the development of G4 MB.
ER -
HENDRIKSE, Liam D, Parthiv HALDIPUR, Olivier SAULNIER, Jake MILLMAN, Alexandria H SJOBOEN, Anders W ERICKSON, Winnie ONG, Victor GORDON, Ludivine COUDIERE-MORRISON, Audrey L MERCIER, Mohammad SHOKOUHIAN, Raul A SUAREZ, Michelle LY, Stephanie BORLASE, David S SCOTT, Maria C VLADOIU, Hamza FAROOQ, Olga SIRBU, Takuma NAKASHIMA, Shohei NAMBU, Yusuke FUNAKOSHI, Alec BAHCHELI, J Javier DIAZ-MEJIA, Joseph GOLSER, Kathleen BACH, Tram PHUONG-BAO, Patryk SKOWRON, Evan Y WANG, Sachin A KUMAR, Polina BALIN, Abhirami VISVANATHAN, John J Y LEE, Ramy AYOUB, Xin CHEN, Xiaodi CHEN, Karen L MUNGALL, Betty LUU, Pierre BERUBE, Yu C WANG, Stefan M PFISTER, Seung-Ki KIM, Olivier DELATTRE, Franck BOURDEAUT, Francois DOZ, Julien MASLIAH-PLANCHON, Wieslawa A GRAJKOWSKA, James LOUKIDES, Peter DIRKS, Michelle FEVRE-MONTANGE, Anne JOUVET, Pim J FRENCH, Johan M KROS, Karel ZITTERBART, Swneke D BAILEY, Charles G EBERHART, Amulya A N RAO, Caterina GIANNINI, James M OLSON, Miklos GARAMI, Peter HAUSER, Joanna J PHILLIPS, Young S RA, de Torres CARMEN, Jaume MORA, Kay K W LI, Ho-Keung NG, Wai S POON, Ian F POLLACK, Enrique LOPEZ-AGUILAR, G Yancey GILLESPIE, E. VAN METER TIMOTHY, Tomoko SHOFUDA, Rajeev VIBHAKAR, Reid C THOMPSON, Michael K COOPER, Joshua B RUBIN, Toshihiro KUMABE, Shin JUNG, Boleslaw LACH, Achille LOLASCON, Veronica FERRUCCI, de Antonellis PASQUALINO, Massimo ZOLLO, Giuseppe CINALLI, Shenandoah ROBINSON, Duncan S STEARNS, G. VAN MEIR ERWIN, Paola PORRATI, Gaetano FINOCCHIARO, Maura MASSIMINO, Carlos G CARLOTTI, Claudia C FARIA, Martine F ROUSSEL, Frederick BOOP, Jennifer A CHAN, Kimberly A ALDINGER, Ferechte RAZAVI, Evelina SILVESTRI, Roger E MCLENDON, Eric M THOMPSON, Marc ANSARI, Maria L GARRE, Fernando CHICO, Pilar EGUIA, Mario PEREZPENA, A Sorana MORRISSY, Florence M G CAVALLI, Xiaochong WU, Craig DANIELS, Jeremy N RICH, Steven J M JONES, Richard A MOORE, Marco A MARRA, Xi HUANG, Juri REIMAND, Poul H SORENSEN, Robert J WECHSLER-REYA, William A WEISS, Trevor J PUGH, Livia GARZIA, Claudia L KLEINMAN, Lincoln D STEIN, Nada JABADO, David MALKIN, Olivier AYRAULT, Jeffrey A GOLDEN, David W ELLISON, Brad DOBLE, Vijay RAMASWAMY, Tamra E WERBOWETSKI-OGILVIE, Hiromichi SUZUKI, Kathleen J MILLEN a Michael D TAYLOR. Failure of human rhombic lip differentiation underlies medulloblastoma formation. \textit{Nature}. Berlin: NATURE PUBLISHING GROUP, 2022, roč.~609, č.~7929, s.~''1021''-''+'', 35 s. ISSN~0028-0836. Dostupné z: https://dx.doi.org/10.1038/s41586-022-05215-w.
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