ArticleNature communications2014
Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.
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Who cites it
107 citing papers in PubMed, 1 synthesis or guideline pooled it, 175 citations in OpenAlex.
- Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic review.Cancer science · 2016Pooled it
- DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.The Journal of clinical investigation · 2020Trial
- Gain of 1q As a Prognostic Biomarker in Wilms Tumors (WTs) Treated With Preoperative Chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 Trial: A SIOP Renal Tumours Biology Consortium Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2016Trial
- DICER1-related tumour predisposition mutations increase 3p-miRNA function and HERVH activity.Nature communications · 2026Article
- Structural insights into disease-associated mutations in the microRNA processing machinery.Experimental & molecular medicine · 2026Review
- DGCR8 regulates multiple processes of transcription coupled nucleotide excision repair.Scientific reports · 2026Article
- The Life of MicroRNAs: Biogenesis, Function and Decay in Cancer.Biomolecules · 2025Review
- Assessing Microprocessor complex mutations with a Microsensor system.RNA (New York, N.Y.) · 2025Article
- An imbalance between proliferation and differentiation underlies the development of microRNA-defective pineoblastoma.Genes & development · 2025Article
- Suppressing proteasome activity enhances sensitivity to actinomycin D in diffuse anaplastic Wilms tumor.Cell reports. Medicine · 2025Article
- Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Fine Regulation of MicroRNAs in Gene Regulatory Networks and Pathophysiology.International journal of molecular sciences · 2025Review
- Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.Translational oncology · 2025Article
- Actinomycin D and bortezomib disrupt protein homeostasis in Wilms tumor.bioRxiv : the preprint server for biology · 2024Article
- MicroRNA regulator gene mutations in thyroid follicular nodular disease and thyroid cancer: does it all come down to timing?European thyroid journal · 2024Review
- MicroRNA and Rare Human Diseases.Genes · 2024Review
- MiRNA-449 family is epigenetically repressed and sensitizes to doxorubicin through ACSL4 downregulation in triple-negative breast cancer.Cell death discovery · 2024Article
- DROSHA Regulates Mesenchymal Gene Expression in Wilms Tumor.Molecular cancer research : MCR · 2024Article
- Article
- Hallmark discoveries in the biology of Wilms tumour.Nature reviews. Urology · 2024Review
47 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilms tumour (WT) is an embryonal kidney neoplasia for which very few driver genes have been identified. Here we identify DROSHA mutations in 12% of WT samples (26/222) using whole-exome sequencing and targeted sequencing of 10 microRNA (miRNA)-processing genes. A recurrent mutation (E1147K) affecting a metal-binding residue of the RNase IIIb domain is detected in 81% of the DROSHA-mutated tumours. In addition, we identify non-recurrent mutations in other genes of this pathway (DGCR8, DICER1, XPO5 and TARBP2). By assessing the miRNA expression pattern of the DROSHA-E1147K-mutated tumours and cell lines expressing this mutation, we determine that this variant leads to a predominant downregulation of a subset of miRNAs. We confirm that the downregulation occurs exclusively in mature miRNAs and not in primary miRNA transcripts, suggesting that the DROSHA E1147K mutation affects processing of primary miRNAs. Our data underscore the pivotal role of the miRNA biogenesis pathway in WT tumorigenesis, particularly the major miRNA-processing gene DROSHA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.