- Raúl Torres
- Pilar Puig
- M. Carmen Martín
- Marta Martínez-Lage
- Francisco José Moya
Recurrent chromosomal rearrangements are very common and well-known hallmarks of cancer. One of their main consequences is the creation of new chimeric genes as a result of the fusion of the coding sequences of 2 different genes. The research activity of the Molecular Cytogenetics and Genome Editing Unit (MC&GEU) is focused on increasing the knowledge about the genetics of tumours and the discovery of new therapeutic targets. With the combined used of CRISPR genome editing and cytogenetic technologies, we are creating human in vitro models that recapitulate chromosomal, genetic and epigenetic cancer alterations. The goal of the Unit is to provide the CNIO and external researchers with the latest technologies used in the fields of molecular cytogenetics and genome editing. The Unit is constantly implementing and developing new technologies in the gene editing field. We also participate in collaborative projects with clinical and basic science investigators at the CNIO and other institutes.
- (2020). Robustness of Catalytically Dead Cas9 Activators in Human Pluripotent and Mesenchymal Stem Cells.. Molecular Therapy-Nucleic Acids 20, 196-204. CNIO Publication. Open Access
- (2019). Epigenetic reprogramming of primary pancreatic cancer cells counteracts their in vivo tumourigenicity.. Oncogene 38, 6226-6239. CNIO Publication.
- (2019). Gene editing of PKLR gene in human hematopoietic progenitors through 5′ and 3′ UTR modified TALEN mRNA. PLoS One 14, e0223775. CNIO Publication. Open Access
- (2019). NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia. Cell Stem Cell 25, 607-621. CNIO Publication.
- (2019). Immune Profiling and Quantitative Analysis Decipher the Clinical Role of Immune-Checkpoint Expression in the Tumor Immune Microenvironment of DLBCL. Cancer Immunol Res 7, 644-657. CNIO Publication.
- (2019). PAUF/ZG16B promotes colorectal cancer progression through alterations of the mitotic functions and the Wnt/ß-catenin pathway. Carcinogenesis (in press). CNIO Publication.
- (2019). Functional characterization of two enhancers located downstream FOXP2. BMC Med Genet. 20, 65. CNIO Publication. Open Access
- (2019). Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing. Mol Ther 27, 986-998. CNIO Publication.
- (2018). mTORC1 inactivation promotes colitis-induced colorectal cancer. Cell Metab 27, 118-135. CNIO Publication.
- (2018). Somatic genome editing with the RCAS-TVA-CRISPR-Cas9 system for precision tumor modeling. Nat Commun 9, 1466. CNIO Publication. Open Access
- (2018). The IS2 Element Improves Transcription Efficiency of Integration-Deficient Lentiviral Vector Episomes. Molecular Therapy-Nucleic Acids 13, 16-28. CNIO Publication. Open Access
- (2018). CRISPR/Cas9 for Cancer Therapy: Hopes and Challenges. Biomedicines 6, E105. CNIO Publication. Open Access
- (2018). Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis. Mol Can 17, 23. CNIO Publication. Open Access
- (2018). Narrowing the genetic causes of language dysfunction in the 1q21.1 microduplication syndrome. Front Pediatr 6, 163. CNIO Publication. Open Access
- (2018). Gain-of-function mutations in DNMT3A in patients with paraganglioma. Genet Med 20, 1644-1651. CNIO Publication.
- (2017). The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia.. Leukemia 31, 2000-2005. CNIO Publication.
- (2017). Modeling mixed-lineage-rearranged leukemia initiation in CD34+ cells: a “CRISPR” solution. Haematologica 102, 1467-168. CNIO Publication.
- (2017). Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients. EMBO Mol Med 9, 1574-1588. CNIO Publication.
- (2017). Efficient Recreation of t(11;22) EWSR1-FLI1+ in Human Stem Cells Using CRISPR/Cas9. Stem Cell Reports 8, 1408-1420. CNIO Publication.
- (2017). Generation and characterization of a human iPSC cell line expressing inducible Cas9 in the “safe harbor” AAVS1 locus. Stem Cell Res 21, 137-140. CNIO Publication.
- (2017). CRISPR-Cas9 technology: applications and human disease modelling.. Brief Funct Genomics 16, 4-12. CNIO Publication.
- (2017). CRISPR/Cas9 Technology: Applications and Human Disease Modeling.. Prog Mol Biol Transl Sci 152, 23-48. CNIO Publication.
- (2016). BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis. Nat Commun 7, 10153. CNIO Publication. Open Access
- (2016). Truncated RUNX1 protein generated by a novel t(1;21)(p32;q22) chromosomal translocation impairs the proliferation and differentiation of human hematopoietic progenitors.. Oncogene 35, 125-134. CNIO Publication.
- (2016). Development refractoriness of MLL-rearranged human B cell acute leukemias to reprogramming into pluripotency. Stem Cell Reports 7, 602-618. CNIO Publication. Open Access
- (2016). MAPK8-mediated stabilization of SP1 is essential for RUNX1-RUNX1T1 – driven leukaemia.. Br J Haematol 172, 807-810. CNIO Publication.
- (2015). Deletion At 6Q24.2-26 Predicts Longer Survival Of High-Grade Serous Epithelial Ovarian Cancer Patients.. Mol Oncol 9, 422-436. CNIO Publication.
- (2015). CRISPR-Cas9: A Revolutionary Tool for Cancer Modelling.. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 16, 22151-22168. CNIO Publication.
- (2015). Chronic neutrophilic leukemia: a clinical perspective. Oncotargets and Therpay 8, 2383-2390. CNIO Publication.
- (2015). A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.. Nat Communications 6, 8383. CNIO Publication.