guest ::
| Home > Publications database > Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. > print |
| Home > Publications database > Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. > print |
| 001 | 136814 | ||
| 005 | 20240229105101.0 | ||
| 024 | 7 | _ | |a 10.1038/s41467-018-05029-3 |2 doi |
| 024 | 7 | _ | |a pmid:30030436 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC6054684 |2 pmc |
| 024 | 7 | _ | |a altmetric:45386452 |2 altmetric |
| 037 | _ | _ | |a DKFZ-2018-01252 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 500 |
| 100 | 1 | _ | |a Snuderl, Matija |b 0 |
| 245 | _ | _ | |a Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. |
| 260 | _ | _ | |a London |c 2018 |b Nature Publishing Group |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1565611745_30779 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk of pineoblastoma, but genetic drivers of sporadic pineoblastoma remain unknown. Here, we analyzed pediatric and adult pineoblastoma samples (n = 23) using a combination of genome-wide DNA methylation profiling and whole-exome sequencing or whole-genome sequencing. Pediatric and adult pineoblastomas showed distinct methylation profiles, the latter clustering with lower-grade pineal tumors and normal pineal gland. Recurrent variants were found in genes involved in PKA- and NF-κB signaling, as well as in chromatin remodeling genes. We identified recurrent homozygous deletions of DROSHA, acting upstream of DICER1 in microRNA processing, and a novel microduplication involving chromosomal region 1q21 containing PDE4DIP (myomegalin), comprising the ancient DUF1220 protein domain. Expresion of PDE4DIP and DUF1220 proteins was present exclusively in pineoblastoma with PDE4DIP gain. |
| 536 | _ | _ | |a 319H - Addenda (POF3-319H) |0 G:(DE-HGF)POF3-319H |c POF3-319H |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 700 | 1 | _ | |a Kannan, Kasthuri |0 0000-0002-8479-0657 |b 1 |
| 700 | 1 | _ | |a Pfaff, Elke |0 P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb |b 2 |
| 700 | 1 | _ | |a Wang, Shiyang |b 3 |
| 700 | 1 | _ | |a Stafford, James M |b 4 |
| 700 | 1 | _ | |a Serrano, Jonathan |b 5 |
| 700 | 1 | _ | |a Heguy, Adriana |b 6 |
| 700 | 1 | _ | |a Ray, Karina |b 7 |
| 700 | 1 | _ | |a Faustin, Arline |b 8 |
| 700 | 1 | _ | |a Aminova, Olga |b 9 |
| 700 | 1 | _ | |a Dolgalev, Igor |0 0000-0003-4451-126X |b 10 |
| 700 | 1 | _ | |a Stapleton, Stacie L |b 11 |
| 700 | 1 | _ | |a Zagzag, David |b 12 |
| 700 | 1 | _ | |a Chiriboga, Luis |0 0000-0002-2028-6873 |b 13 |
| 700 | 1 | _ | |a Gardner, Sharon L |b 14 |
| 700 | 1 | _ | |a Wisoff, Jeffrey H |b 15 |
| 700 | 1 | _ | |a Golfinos, John G |b 16 |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 17 |
| 700 | 1 | _ | |a Hovestadt, Volker |0 P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc |b 18 |
| 700 | 1 | _ | |a Rosenblum, Marc K |b 19 |
| 700 | 1 | _ | |a Placantonakis, Dimitris G |b 20 |
| 700 | 1 | _ | |a LeBoeuf, Sarah E |b 21 |
| 700 | 1 | _ | |a Papagiannakopoulos, Thales Y |b 22 |
| 700 | 1 | _ | |a Chavez, Lukas |0 P:(DE-He78)082dd3179733e3e716a58eb90f418a78 |b 23 |
| 700 | 1 | _ | |a Ahsan, Sama |b 24 |
| 700 | 1 | _ | |a Eberhart, Charles G |b 25 |
| 700 | 1 | _ | |a Pfister, Stefan |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 26 |
| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 27 |u dkfz |
| 700 | 1 | _ | |a Karajannis, Matthias A |0 0000-0002-7151-6528 |b 28 |
| 773 | _ | _ | |a 10.1038/s41467-018-05029-3 |g Vol. 9, no. 1, p. 2868 |0 PERI:(DE-600)2553671-0 |n 1 |p 2868 |t Nature Communications |v 9 |y 2018 |x 2041-1723 |
| 909 | C | O | |p VDB |o oai:inrepo02.dkfz.de:136814 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 2 |6 P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 17 |6 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 18 |6 P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 23 |6 P:(DE-He78)082dd3179733e3e716a58eb90f418a78 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 26 |6 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |
| 910 | 1 | _ | |a Deutsches Krebsforschungszentrum |0 I:(DE-588b)2036810-0 |k DKFZ |b 27 |6 P:(DE-He78)551bb92841f634070997aa168d818492 |
| 913 | 1 | _ | |a DE-HGF |l Krebsforschung |1 G:(DE-HGF)POF3-310 |0 G:(DE-HGF)POF3-319H |2 G:(DE-HGF)POF3-300 |v Addenda |x 0 |4 G:(DE-HGF)POF |3 G:(DE-HGF)POF3 |b Gesundheit |
| 914 | 1 | _ | |y 2018 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b NAT COMMUN : 2015 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0310 |2 StatID |b NCBI Molecular Biology Database |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0501 |2 StatID |b DOAJ Seal |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0500 |2 StatID |b DOAJ |
| 915 | _ | _ | |a Creative Commons Attribution CC BY (No Version) |0 LIC:(DE-HGF)CCBYNV |2 V:(DE-HGF) |b DOAJ |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Thomson Reuters Master Journal List |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0110 |2 StatID |b Science Citation Index |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0111 |2 StatID |b Science Citation Index Expanded |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1060 |2 StatID |b Current Contents - Agriculture, Biology and Environmental Sciences |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1030 |2 StatID |b Current Contents - Life Sciences |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1150 |2 StatID |b Current Contents - Physical, Chemical and Earth Sciences |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1040 |2 StatID |b Zoological Record |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |
| 915 | _ | _ | |a IF >= 10 |0 StatID:(DE-HGF)9910 |2 StatID |b NAT COMMUN : 2015 |
| 920 | 1 | _ | |0 I:(DE-He78)B062-20160331 |k B062 |l Pädiatrische Neuroonkologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-He78)G380-20160331 |k G380 |l KKE Neuropathologie |x 1 |
| 920 | 1 | _ | |0 I:(DE-He78)L101-20160331 |k L101 |l DKTK Heidelberg |x 2 |
| 920 | 1 | _ | |0 I:(DE-He78)B060-20160331 |k B060 |l Molekulare Genetik |x 3 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a I:(DE-He78)B062-20160331 |
| 980 | _ | _ | |a I:(DE-He78)G380-20160331 |
| 980 | _ | _ | |a I:(DE-He78)L101-20160331 |
| 980 | _ | _ | |a I:(DE-He78)B060-20160331 |
| 980 | _ | _ | |a UNRESTRICTED |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|