Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma
Pineoblastoma is a highly aggressive and rare childhood brain cancer, and the genetic drivers of sporadic pineoblastoma are unknown. Here, the authors genomically interrogated pediatric and adult pineoblastomas and found novel variants including recurrent homozygous deletions of DROSHA.
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Nature Portfolio
2018
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oai:doaj.org-article:ead93584496f48eaacd71d7cac4d15012021-12-02T16:56:57ZRecurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma10.1038/s41467-018-05029-32041-1723https://doaj.org/article/ead93584496f48eaacd71d7cac4d15012018-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-05029-3https://doaj.org/toc/2041-1723Pineoblastoma is a highly aggressive and rare childhood brain cancer, and the genetic drivers of sporadic pineoblastoma are unknown. Here, the authors genomically interrogated pediatric and adult pineoblastomas and found novel variants including recurrent homozygous deletions of DROSHA.Matija SnuderlKasthuri KannanElke PfaffShiyang WangJames M. StaffordJonathan SerranoAdriana HeguyKarina RayArline FaustinOlga AminovaIgor DolgalevStacie L. StapletonDavid ZagzagLuis ChiribogaSharon L. GardnerJeffrey H. WisoffJohn G. GolfinosDavid CapperVolker HovestadtMarc K. RosenblumDimitris G. PlacantonakisSarah E. LeBoeufThales Y. PapagiannakopoulosLukas ChavezSama AhsanCharles G. EberhartStefan M. PfisterDavid T. W. JonesMatthias A. KarajannisNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-10 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Matija Snuderl Kasthuri Kannan Elke Pfaff Shiyang Wang James M. Stafford Jonathan Serrano Adriana Heguy Karina Ray Arline Faustin Olga Aminova Igor Dolgalev Stacie L. Stapleton David Zagzag Luis Chiriboga Sharon L. Gardner Jeffrey H. Wisoff John G. Golfinos David Capper Volker Hovestadt Marc K. Rosenblum Dimitris G. Placantonakis Sarah E. LeBoeuf Thales Y. Papagiannakopoulos Lukas Chavez Sama Ahsan Charles G. Eberhart Stefan M. Pfister David T. W. Jones Matthias A. Karajannis Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma |
| description |
Pineoblastoma is a highly aggressive and rare childhood brain cancer, and the genetic drivers of sporadic pineoblastoma are unknown. Here, the authors genomically interrogated pediatric and adult pineoblastomas and found novel variants including recurrent homozygous deletions of DROSHA. |
| format |
article |
| author |
Matija Snuderl Kasthuri Kannan Elke Pfaff Shiyang Wang James M. Stafford Jonathan Serrano Adriana Heguy Karina Ray Arline Faustin Olga Aminova Igor Dolgalev Stacie L. Stapleton David Zagzag Luis Chiriboga Sharon L. Gardner Jeffrey H. Wisoff John G. Golfinos David Capper Volker Hovestadt Marc K. Rosenblum Dimitris G. Placantonakis Sarah E. LeBoeuf Thales Y. Papagiannakopoulos Lukas Chavez Sama Ahsan Charles G. Eberhart Stefan M. Pfister David T. W. Jones Matthias A. Karajannis |
| author_facet |
Matija Snuderl Kasthuri Kannan Elke Pfaff Shiyang Wang James M. Stafford Jonathan Serrano Adriana Heguy Karina Ray Arline Faustin Olga Aminova Igor Dolgalev Stacie L. Stapleton David Zagzag Luis Chiriboga Sharon L. Gardner Jeffrey H. Wisoff John G. Golfinos David Capper Volker Hovestadt Marc K. Rosenblum Dimitris G. Placantonakis Sarah E. LeBoeuf Thales Y. Papagiannakopoulos Lukas Chavez Sama Ahsan Charles G. Eberhart Stefan M. Pfister David T. W. Jones Matthias A. Karajannis |
| author_sort |
Matija Snuderl |
| title |
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma |
| title_short |
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma |
| title_full |
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma |
| title_fullStr |
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma |
| title_full_unstemmed |
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma |
| title_sort |
recurrent homozygous deletion of drosha and microduplication of pde4dip in pineoblastoma |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/ead93584496f48eaacd71d7cac4d1501 |
| work_keys_str_mv |
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