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@ARTICLE{Hendrikse:181849,
      author       = {L. D. Hendrikse and P. Haldipur and O. Saulnier and J.
                      Millman and A. H. Sjoboen and A. W. Erickson and W. Ong and
                      V. Gordon and L. Coudière-Morrison and A. L. Mercier and M.
                      Shokouhian and R. A. Suárez and M. Ly and S. Borlase and D.
                      S. Scott and M. C. Vladoiu and H. Farooq and O. Sirbu and T.
                      Nakashima and S. Nambu and Y. Funakoshi and A. Bahcheli and
                      J. J. Diaz-Mejia and J. Golser and K. Bach and T. Phuong-Bao
                      and P. Skowron and E. Y. Wang and S. A. Kumar and P. Balin
                      and A. Visvanathan and J. J. Y. Lee and R. Ayoub and X. Chen
                      and X. Chen and K. L. Mungall and B. Luu and P. Bérubé and
                      Y. C. Wang and S. Pfister$^*$ and S.-K. Kim and O. Delattre
                      and F. Bourdeaut and F. Doz and J. Masliah-Planchon and W.
                      A. Grajkowska and J. Loukides and P. Dirks and M.
                      Fèvre-Montange and A. Jouvet and P. J. French and J. M.
                      Kros and K. Zitterbart and S. D. Bailey and C. G. Eberhart
                      and A. A. N. Rao and C. Giannini and J. M. Olson and M.
                      Garami and P. Hauser and J. J. Phillips and Y. S. Ra and C.
                      de Torres and J. Mora and K. K. W. Li and H.-K. Ng and W. S.
                      Poon and I. F. Pollack and E. López-Aguilar and G. Y.
                      Gillespie and T. E. Van Meter and T. Shofuda and R. Vibhakar
                      and R. C. Thompson and M. K. Cooper and J. B. Rubin and T.
                      Kumabe and S. Jung and B. Lach and A. Lolascon and V.
                      Ferrucci and P. de Antonellis and M. Zollo and G. Cinalli
                      and S. Robinson and D. S. Stearns and E. G. Van Meir and P.
                      Porrati and G. Finocchiaro and M. Massimino and C. G.
                      Carlotti and C. C. Faria and M. F. Roussel and F. Boop and
                      J. A. Chan and K. A. Aldinger and F. Razavi and E. Silvestri
                      and R. E. McLendon and E. M. Thompson and M. Ansari and M.
                      L. Garre and F. Chico and P. Eguía and M. Pérezpeña and
                      A. S. Morrissy and F. M. G. Cavalli and X. Wu and C. Daniels
                      and J. N. Rich and S. J. M. Jones and R. A. Moore and M. A.
                      Marra and X. Huang and J. Reimand and P. H. Sorensen and R.
                      J. Wechsler-Reya and W. A. Weiss and T. J. Pugh and L.
                      Garzia and C. L. Kleinman and L. D. Stein and N. Jabado and
                      D. Malkin and O. Ayrault and J. A. Golden and D. W. Ellison
                      and B. Doble and V. Ramaswamy and T. E. Werbowetski-Ogilvie
                      and H. Suzuki and K. J. Millen and M. D. Taylor},
      title        = {{F}ailure of human rhombic lip differentiation underlies
                      medulloblastoma formation.},
      journal      = {Nature},
      volume       = {609},
      number       = {7929},
      issn         = {0028-0836},
      address      = {London [u.a.]},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2022-02264},
      pages        = {1021-1028},
      year         = {2022},
      note         = {2022 Sep;609(7929):1021-1028},
      abstract     = {Medulloblastoma (MB) comprises a group of heterogeneous
                      paediatric embryonal neoplasms of the hindbrain with strong
                      links to early development of the hindbrain1-4. Mutations
                      that activate Sonic hedgehog signalling lead to Sonic
                      hedgehog MB in the upper rhombic lip (RL) granule cell
                      lineage5-8. By contrast, mutations that activate WNT
                      signalling lead to WNT MB in the lower RL9,10. However,
                      little is known about the more commonly occurring group 4
                      (G4) MB, which is thought to arise in the unipolar brush
                      cell lineage3,4. Here we demonstrate that somatic mutations
                      that 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 of the cerebellar RL
                      subventricular zone in Homo sapiens, and G4 MB
                      transcriptionally resembles these progenitors but are
                      stalled in developmental time. Knockdown of OTX2 in model
                      systems relieves this differentiation blockade, which allows
                      MB cells to spontaneously proceed along normal developmental
                      differentiation trajectories. The specific nature of the
                      split human RL, which is destined to generate most of the
                      neurons in the human brain, and its high level of
                      susceptible EOMES+KI67+ unipolar brush cell progenitor cells
                      probably predisposes our species to the development of G4
                      MB.},
      cin          = {B062},
      ddc          = {500},
      cid          = {I:(DE-He78)B062-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36131014},
      doi          = {10.1038/s41586-022-05215-w},
      url          = {https://inrepo02.dkfz.de/record/181849},
}