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| Home > Publications database > Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors. > print |
| Home > Publications database > Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors. > print |
| 001 | 127763 | ||
| 005 | 20240228140947.0 | ||
| 024 | 7 | _ | |a 10.1016/j.ccell.2015.01.002 |2 doi |
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| 024 | 7 | _ | |a 1535-6108 |2 ISSN |
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| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Wegert, Jenny |b 0 |
| 245 | _ | _ | |a Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors. |
| 260 | _ | _ | |a Cambridge, Mass. |c 2015 |b Cell Press |
| 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 1508922845_22424 |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 Blastemal histology in chemotherapy-treated pediatric Wilms tumors (nephroblastoma) is associated with adverse prognosis. To uncover the underlying tumor biology and find therapeutic leads for this subgroup, we analyzed 58 blastemal type Wilms tumors by exome and transcriptome sequencing and validated our findings in a large replication cohort. Recurrent mutations included a hotspot mutation (Q177R) in the homeo-domain of SIX1 and SIX2 in tumors with high proliferative potential (18.1% of blastemal cases); mutations in the DROSHA/DGCR8 microprocessor genes (18.2% of blastemal cases); mutations in DICER1 and DIS3L2; and alterations in IGF2, MYCN, and TP53, the latter being strongly associated with dismal outcome. DROSHA and DGCR8 mutations strongly altered miRNA expression patterns in tumors, which was functionally validated in cell lines expressing mutant DROSHA. |
| 536 | _ | _ | |a 312 - Functional and structural genomics (POF3-312) |0 G:(DE-HGF)POF3-312 |c POF3-312 |f POF III |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a DGCR8 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Homeodomain Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a MicroRNAs |2 NLM Chemicals |
| 650 | _ | 7 | |a Neoplasm Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a Nerve Tissue Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a RNA-Binding Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a SIX1 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a SIX2 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a DROSHA protein, human |0 EC 3.1.26.3 |2 NLM Chemicals |
| 650 | _ | 7 | |a Ribonuclease III |0 EC 3.1.26.3 |2 NLM Chemicals |
| 700 | 1 | _ | |a Ishaque, Naveed |0 P:(DE-He78)4096eeffdfc73b75e8ba63dc621a017d |b 1 |e First author |u dkfz |
| 700 | 1 | _ | |a Vardapour, Romina |b 2 |
| 700 | 1 | _ | |a Geörg, Christina |b 3 |
| 700 | 1 | _ | |a Gu, Zuguang |0 P:(DE-He78)73316f3cd41c27508dbb6f4c5e7e7a8a |b 4 |u dkfz |
| 700 | 1 | _ | |a Bieg, Matthias |0 P:(DE-He78)e247efc0264a7b0e4bae09804002d4e1 |b 5 |u dkfz |
| 700 | 1 | _ | |a Ziegler, Barbara |b 6 |
| 700 | 1 | _ | |a Bausenwein, Sabrina |b 7 |
| 700 | 1 | _ | |a Nourkami, Nasenien |b 8 |
| 700 | 1 | _ | |a Ludwig, Nicole |b 9 |
| 700 | 1 | _ | |a Keller, Andreas |b 10 |
| 700 | 1 | _ | |a Grimm, Clemens |b 11 |
| 700 | 1 | _ | |a Kneitz, Susanne |b 12 |
| 700 | 1 | _ | |a Williams, Richard D |b 13 |
| 700 | 1 | _ | |a Chagtai, Tas |b 14 |
| 700 | 1 | _ | |a Pritchard-Jones, Kathy |b 15 |
| 700 | 1 | _ | |a van Sluis, Peter |b 16 |
| 700 | 1 | _ | |a Volckmann, Richard |b 17 |
| 700 | 1 | _ | |a Koster, Jan |b 18 |
| 700 | 1 | _ | |a Versteeg, Rogier |b 19 |
| 700 | 1 | _ | |a Acha, Tomas |b 20 |
| 700 | 1 | _ | |a O'Sullivan, Maureen J |b 21 |
| 700 | 1 | _ | |a Bode, Peter K |b 22 |
| 700 | 1 | _ | |a Niggli, Felix |b 23 |
| 700 | 1 | _ | |a Tytgat, Godelieve A |b 24 |
| 700 | 1 | _ | |a van Tinteren, Harm |b 25 |
| 700 | 1 | _ | |a van den Heuvel-Eibrink, Marry M |b 26 |
| 700 | 1 | _ | |a Meese, Eckart |b 27 |
| 700 | 1 | _ | |a Vokuhl, Christian |b 28 |
| 700 | 1 | _ | |a Leuschner, Ivo |b 29 |
| 700 | 1 | _ | |a Graf, Norbert |b 30 |
| 700 | 1 | _ | |a Eils, Roland |0 P:(DE-He78)78b6aa82148e60b4d91e3a37a6d3d9a0 |b 31 |u dkfz |
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| 700 | 1 | _ | |a Gessler, Manfred |b 34 |
| 773 | _ | _ | |a 10.1016/j.ccell.2015.01.002 |g Vol. 27, no. 2, p. 298 - 311 |0 PERI:(DE-600)2074034-7 |n 2 |p 298 - 311 |t Cancer cell |v 27 |y 2015 |x 1535-6108 |
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