- Pilar Puig
- M. Carmen Martín
- Marta Martínez-Lage
Chromosomal rearrangements are very common events involved in the initiation and development of several solid and many haematological neoplasias. The research activity of the Molecular Cytogenetics and Genome Editing Unit covers the main topics related to human cancer cytogenetics and genome engineering: from classical cytogenetics techniques to new genome engineering tools, including the CRISPR-Cas9 system. We are focusing on the implementation and development of new technologies to enhance the knowledge about the (cyto)genetics of tumours and to discover new potential therapeutic targets. With the combined usage of CRISPR-Cas9 genome editing and cellular technologies, we are creating human in vitro models that recapitulate chromosomal, genetic and epigenetic cancer alterations. The members of the Unit also participate in collaborative projects with clinical and basic science investigators across the CNIO and other Institutes.
- Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing(2019)
Mol Ther (in press).
- Immune Profiling and Quantitative Analysis Decipher the Clinical Role of Immune-Checkpoint Expression in the Tumor Immune Microenvironment of DLBCL(2019)
Cancer Immunol Res 7, 644-657.
- Somatic genome editing with the RCAS-TVA-CRISPR-Cas9 system for precision tumor modeling(2018)
Nat Commun 9, 1466-.
- The IS2 Element Improves Transcription Efficiency of Integration-Deficient Lentiviral Vector Episomes(2018)
Molecular Therapy-Nucleic Acids 13, 16-28.
- CRISPR/Cas9 for Cancer Therapy: Hopes and Challenges(2018)
Biomedicines 6, E105-.
- Gain-of-function mutations in DNMT3A in patients with paraganglioma(2018)
Genet Med 20, 1644-1651.
- mTORC1 inactivation promotes colitis-induced colorectal cancer(2018)
Cell Metab 27, 118-135.
- Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis(2018)
Mol Can 17, 23-.
- Narrowing the genetic causes of language dysfunction in the 1q21.1 microduplication syndrome(2018)
Front Pediatr 6, 163-.
- The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia.(2017)
Leukemia 31, 2000-2005.
- Modeling mixed-lineage-rearranged leukemia initiation in CD34+ cells: a “CRISPR” solution.(2017)
Haematologica 102, 1467-168.
- Therapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients.(2017)
EMBO Mol Med 9, 1574-1588.
- Efficient Recreation of t(11;22) EWSR1-FLI1+ in Human Stem Cells Using CRISPR/Cas9.(2017)
Stem Cell Reports 8, 1408-1420.
- Generation and characterization of a human iPSC cell line expressing inducible Cas9 in the “safe harbor” AAVS1 locus.(2017)
Stem Cell Res 21, 137-140.
- CRISPR-Cas9 technology: applications and human disease modelling.(2017)
Brief Funct Genomics 16, 4-12.
- CRISPR/Cas9 Technology: Applications and Human Disease Modeling.(2017)
Prog Mol Biol Transl Sci 152, 23-48.
- BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis.(2016)
Nat Communications 7, 10153-.
- Truncated RUNX1 protein generated by a novel t(1;21)(p32;q22) chromosomal translocation impairs the proliferation and differentiation of human hematopoietic progenitors.(2016)
Oncogene 35, 125-134.
- Development refractoriness of MLL-rearranged human B cell acute leukemias to reprogramming into pluripotency.(2016)
Stem Cell Reports 7, 602-618.
- MAPK8-mediated stabilization of SP1 is essential for RUNX1-RUNX1T1 – driven leukaemia.(2016)
Br J Haematol 172, 807-810.
- A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.(2015)
Nat Communications 6, 8383-.
- Deletion At 6Q24.2-26 Predicts Longer Survival Of High-Grade Serous Epithelial Ovarian Cancer Patients.(2015)
Mol Oncol 9, 422-436.
- CRISPR-Cas9: A Revolutionary Tool for Cancer Modelling.(2015)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 16, 22151-22168.
- Chronic neutrophilic leukemia: a clinical perspective(2015)
Oncotargets and Therpay 8, 2383-2390.
- Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR-Cas9 system.(2014)
Nat Communications 5, 3964-.
- Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm.(2014)
Leukemia 28, 823-829.
- Sequential gene targeting to make chimeric tumor models with de novo chromosomal abnormalities.(2014)
Cancer Res 74, 1588-1597.
- Long-term skin regeneration from a gene-targeted human epidermal stem cell clone.(2014)
Mol Ther 22, 1878-1880.
- An integration-defective lentivirus-based resource for site-specific targeting of an edited safe-harbour locus in the human genome.(2014)
Gene Ther 21, 343-352.
- Myeloid neoplasms with der(1)t(1;19) may constitute a specific entity characterized by a cytogenetic biomarker and gene mutations involved in DNA methylation.(2014)
Leuk Lymphoma 55, 2652-2655.
- Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.(2013)
Nat Genet 45, 1464-1469.
- Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype.(2013)
Leukemia 27, 925-931.
- MYC antagonizes the differentiation induced by imatinib in chronic myeloid leukemia cells through downregulation of p27(KIP1).(2013)
Oncogene 32, 2239-2246.
- NIK Controls Classical and Alternative NF-?B Activation and Is Necessary for the Survival of Human T-cell Lymphoma Cells.(2013)
Clin Cancer Res 19, 2319-2330.
- Aberrant DNA methylation profile of chronic and transformed classic Philadelphia-negative myeloproliferative neoplasms.(2013)
Haematologica 98, 1414-1420.
- Determining the profiles and parameters for gene amplification testing of growth factor receptors in lung cancer.(2013)
Int J Cancer 133, 898-907.
- Response to lenalidomide in myelodysplastic syndromes with del(5q): influence of cytogenetics and mutations.(2013)
Br J Haematol 162, 74-86.
- Mechanisms of intracerebral lymphoma growth delineated in a syngeneic mouse model of central nervous system lymphoma.(2013)
J Neuropath Exp Neur 72, 325-336.
- Keratinocyte cell lines derived from severe generalized recessive Epidermolysis Bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.(2013)
Exp Dermatol 22, 601-603.
- Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA.(2013)
J Transl Med 11, 182-.
- CSF3R T618I co-occurs with mutations of splicing and epigenetic genes and with a new PIM3 truncated fusion gene in chronic neutrophilic leukemia.(2013)
Blood Cancer J 3, e158-.
- ASXL1, TP53 and IKZF3 mutations are present in the chronic phase and blast crisis of chronic myeloid leukemia.(2013)
Blood Cancer J 3, e157-.