ArticleNature communications2019
Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
56 citing papers in PubMed, 79 citations in OpenAlex.
- Primary CNS sarcoma, DICER1-mutant with rhabdomyoblastic differentiation arising within the thoracic spine: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.American journal of human genetics · 2026Article
- DICER1-related tumour predisposition mutations increase 3p-miRNA function and HERVH activity.Nature communications · 2026Article
- Rare child primary intracranial sarcoma associated with DICER1 mutation: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- How Do DICER1 Syndrome Mutations Disrupt Catalysis? Unveiling Dicer Metal Binding Architecture and Mechanism of Action Using MD Simulations and QM/MM Calculations.Journal of computational chemistry · 2026Article
- DICER1 dysregulation triggers reprogramming of a specific miRNA subset, promotes mesenchymal cell fates and slows TNBC tumorigenic phenotypes.Non-coding RNA research · 2026Article
- Pleuropulmonary Blastoma and Diagnostic Pitfalls: A Report from the International Pleuropulmonary Blastoma/DICER1 Registry.Archives of pathology & laboratory medicine · 2026Article
- Structural insights into disease-associated mutations in the microRNA processing machinery.Experimental & molecular medicine · 2026Review
- Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.bioRxiv : the preprint server for biology · 2026Article
- Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.JCI insight · 2026Article
- DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review.Case reports in obstetrics and gynecology · 2026Article
- Human DICER1 hotspot mutation induces both loss and gain of miRNA function.Nature structural & molecular biology · 2025Article
- DICER1 hotspot mutation induces 3p microRNA gain of function via Argonaute strand switch.Nature structural & molecular biology · 2025Article
- Human Dicer1 hotspot mutation induces both loss and gain of miRNA function.bioRxiv : the preprint server for biology · 2025Article
- PD-L1 Expression is Mediated by microRNA Processing, Wnt/β-Catenin Signaling, and Chemotherapy in Wilms Tumor.Pediatric blood & cancer · 2025Article
- Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.Nucleic acids research · 2025Article
- Synchronous Ovarian Sertoli-Leydig Cell and Clear Cell Papillary Renal Cell Tumors: A Rare Case Without Mutations in Cancer-Associated Genes.Current oncology (Toronto, Ont.) · 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
- Molecular mechanism and therapeutic strategies for embryonal tumors with multilayered rosettes in children (Review).Molecular and clinical oncology · 2025Review
- Integrated molecular characterization reveals the pathogenesis and therapeutic strategies of pulmonary blastoma.Journal of the National Cancer Center · 2025Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
Somatic mutations in the RNase IIIb domain of DICER1 arise in cancer and disrupt the cleavage of 5' pre-miRNA arms. Here, we characterize an unstudied, recurrent, mutation (S1344L) in the DICER1 RNase IIIa domain in tumors from The Cancer Genome Atlas (TCGA) project and MSK-IMPACT profiling. RNase IIIa/b hotspots are absent from most cancers, but are notably enriched in uterine cancers. Systematic analysis of TCGA small RNA datasets show that DICER1 RNase IIIa-S1344L tumors deplete 5p-miRNAs, analogous to RNase IIIb hotspot samples. Structural and evolutionary coupling analyses reveal constrained proximity of RNase IIIa-S1344 to the RNase IIIb catalytic site, rationalizing why mutation of this site phenocopies known hotspot alterations. Finally, examination of DICER1 hotspot endometrial tumors reveals derepression of specific miRNA target signatures. In summary, comprehensive analyses of DICER1 somatic mutations and small RNA data reveal a mechanistic aspect of pre-miRNA processing that manifests in specific cancer settings.
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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.