Portal de recerca
SPLICING Y EPIGENÉTICA EN SMD. Uso de modelos crispr/cas9 para estudiar el impacto de mutaciones genéticas y epigenéticas co-ocurrentes en los síndromes mielodisplásicos.
Dades bàsiques
- Protocol:
- SAF2017-82171-R
- EURDRACT:
- NCT:
- Centre:
- Any inici:
- 2018
- Any de finalització:
- 2021
Documents
- No hi ha documents
Participants
Grups d'Investigació
Finançadors - Promotors
Resultats de l'Assaig Clínic
A NEW INTRONIC MUTATION CAUSES AN ABERRANT SPLICING IN THE ANK1 GENE
Liquori, A.; (...); Cervera, J., V
Meeting Abstract. 2018
A predictive model for prostate cancer incorporating PSA molecular forms and age.
Oto J; (...); Navarro S
Article. 10.1038/s41598-020-58836-4. 2020
A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms
Liquori, A; (...); Cervera, J
Article. 10.3390/cancers13081947. 2021
a2-Macroglobulin is a significant in vivo inhibitor of activated protein C and low levels of APC:a2M are associated with venous thromboembolism
Navarro S; (...); Medina P
Article. 2018
Aberrant Alternative Splicing in U2af1/Tet2 Double Mutant Mice Contributes to Major Hematological Phenotypes
Martínez-Valiente C; (...); Sanjuan-Pla A
Article. 10.3390/ijms22136963. 2021
Activated protein C assays: a review.
Review. 10.1016/j.cca.2019.11.005. 2020
Acute Promyelocytic Leukemia: A Constellation of Molecular Events around a Single PML-RARA Fusion Gene
Review. 10.3390/cancers12030624. 2020
Acute Promyelocytic Leukemia: A Constellation of Molecular Events around a Single PML-RARA Fusion Gene (vol 12, 624, 2020)
Article. 10.3390/cancers13143440. 2021
alpha(2)-Macroglobulin Is a Significant In Vivo Inhibitor of Activated Protein C and Low APC: alpha M-2 Levels Are Associated with Venous Thromboembolism
Martos, L; (...); Medina, P
Article. 10.1055/s-0038-1629902. 2018
Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
Ibanez, M; (...); Cervera, J
Article. 10.1038/s41598-020-61589-9. 2020
Angioedema in patients with urticaria is associated with an increase in thrombin generation peak
Valle, DGK; (...); Rosales, SN
Meeting Abstract. 2018
Anti-tumor effects of PIM/PI3K/mTOR triple kinase inhibitor IBL-302 in neuroblastoma
Mohlin, S; (...); Bexell, D
Article. 10.15252/emmm.201810058. 2019
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chediak-Higashi Syndrome.
Boluda-Navarro, Mireia; (...); Cervera, Jose Vicente
Article. 10.3389/fimmu.2021.625591. 2021
Cis-Acting Splicing-Associated Variants Can Redefine the Molecular Signature of Genes Commonly Mutated in Acute Myeloid Leukemia
Morote-Faubel, Mireya; (...); Cervera, Jose
Meeting Abstract. 10.1182/blood-2023-177571. 2023
CLINICAL IMPACT OF TP53 MUTATIONS IN MDS IN YOUNG ADULTS ACCORDING TO THEIR ALLELIC STATUS
Irene, Gamez; (...); Andres, Jerez
Meeting Abstract. 2021
COMPARISON OF THREE PANELS OF NGS APPLICATION IN ONCOHEMATOLOGY TO DISCARD SOMATIC AND/OR GERMINAL VARIANTS
Guzman-Gimenez, C.; (...); Such, E.
Meeting Abstract. 2021
CONCORDANCE STUDY ON THE CATEGORIZATION OF NON-CANONICAL VARIANTS OF JAK2 GENE
Guzman-Gimenez, C.; (...); Such, E.
Meeting Abstract. 2021
Concurrent Zrsr2 mutation and Tet2 loss promote myelodysplastic neoplasm in mice
Garcia-Ruiz C; (...); Sanjuan-Pla A
Article. 10.1038/s41375-022-01674-2. 2022
CRISPR to fix bad blood: a new tool in basic and clinical hematology
Gonzalez-Romero, E; (...); Sanjuan-Pla, A
Review. 10.3324/haematol.2018.211359. 2019
Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping.
Diaz-Gonzalez, Alvaro; (...); Such, Esperanza
Article. 10.3390/cancers15113039. 2023
Changes in sleep-disordered breathing from the acute to the stable phase of pulmonary embolism and impact of right ventricular dysfunction: preliminary findings of ESAET study
Ortega, AG; (...); Martinez-Garcia, MA
Meeting Abstract. 10.1183/13993003.congress-2020.4974. 2020
CHARACTERIZATION OF CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA BY MEANS OF IMMUNOLOGICAL AND MOLECULAR TECHNIQUES: RESULTS OF THE GEPTT NATIONAL COLLECTION
Liquori, A.; (...); Gomez-Segui, I
Meeting Abstract. 2019
CHARACTERIZATION OF MUTATIONS ALTERING THE PROCESS OF SPLICING IN PATIENTS WITH MYELODYSPLASTIC SYNDROMES (MDS)
Boluda-Navarro, M.; (...); Cervera, J.
Meeting Abstract. 2018
CHARACTERIZATION OF THE GENOMIC AND TRANSCRIPTOMIC PROFILE OF THE ACUTE MYELOID LEUKEMIA (AML) SUBGROUP "CHROMATIN-SPLICEOSOME"
Alessandro, Liquori; (...); Zamora Jose, Cervera
Meeting Abstract. 2020
Chromatin regulation by Histone H4 acetylation at Lysine 16 during cell death and differentiation in the myeloid compartment
Urdinguio, RG; (...); Fraga, MF
Article. 10.1093/nar/gkz195. 2019
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Poyatos-Garcia, Javier; (...); Vilchez, Juan J
Article. 10.1186/s13395-024-00353-3. 2024
Early feeding practices in infants with phenylketonuria across Europe
Pinto, A; (...); MacDonald, A
Article. 10.1016/j.ymgmr.2018.07.008. 2018
EFFECT OF MISSENSE MUTATIONS IN THE SPLICING OF PATIENTS WITH ACUTE MYELOID LEUKAEMIA
Morote-Faubel, M.; (...); Cervera, J.
Meeting Abstract. 2019
Enhancing Cytogenetic Diagnostics: Incorporating Optical Genome Mapping in the Laboratory Routine
Diaz-Gonzalez, Alvaro; (...); Such, Esperanza
Meeting Abstract. 10.1182/blood-2023-180691. 2023
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.
Moret A; (...); Bonanad S
Article. 10.1007/s11239-020-02065-z. 2020
FUNCTIONAL CLASSIFICATION OF DEEP INTRONIC VARIANTS IN PATIENTS WITH ACUTE MYELOBLASTIC LEUKEMIA
Liquori, A.; (...); Cervera Zamora, J.
Meeting Abstract. 2019
FUNCTIONAL RECLASSIFICATION THROUGH MINIGENE TESTS OF MISSENSE VARIANTS WITH EFFECT ON SPLICING IN PATIENTS WITH ACUTE MYELOID LEUKEMIA
Morote-Faubel, Mireya; (...); Cervera, Jose
Meeting Abstract. 2020
GERMLINE PREDISPOSITION TO MYELOID MALIGNANCIES IN A CONSECUTIVE COHORT OF 183 PATIENTS
Santiago, M.; (...); Cervera-Zamora, J.
Meeting Abstract. 10.1016/j.leukres.2023.107247. 2023
IDENTIFICATION OF 58 MUTATIONS (26 NEW) IN 94 OF 109 BEING TESTED WITH PROTEIN DEFICIENCY C. SETH WORKING GROUP
Fernandez-Pardo, A.; (...); Navarro, S.
Meeting Abstract. 2019
Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency
Martos, L; (...); Spanish Soc Thrombosis Haemostasis
Article. 10.1055/s-0039-1692440. 2019
IDENTIFICATION OF A PROFILE OF CLASSES OF CIRCULATING LIPIDS ASSOCIATED WITH THE VENOUS THROMBOEMBOLISM
Fernandez-Pardo, A.; (...); Navarro, S.
Meeting Abstract. 2019
Identification of Novel microRNA Profiles Dysregulated in Plasma and Tissue of Abdominal Aortic Aneurysm Patients
Plana E; (...); Miralles M
Article. 10.3390/ijms21134600. 2020
IMPACT OF ALLELIC STATUS OF TP53 MUTATIONS IN ACUTE MYELOID LEUKEMIA (AML)
Ibanez, Mariam; (...); Sanz, Guillermo
Meeting Abstract. 2020
IN VIVO MODELS FOR THE FUNCTIONAL STUDY OF CO-OCCURRING GENETIC AND EPIGENETIC MUTATIONS IN MYELODYSPLASTIC SYNDROMES
Martinez-Valiente, C.; (...); Sanjuan-Pla, A.
Meeting Abstract. 2018
IN VIVO MODELS TO STUDY THE COOPERATION BETWEEN SPLICING AND DNA METHYLATION IN MYELODYSPLASTIC SYNDROMES
Martinez-Valiente, Cristina; (...); Sanjuan-Pla, Alejandra
Meeting Abstract. 2020
Increase of Neutrophil Activation Markers in Venous Thrombosis-Contribution of Circulating Activated Protein C
Martos L; (...); Medina P
Article. 10.3390/ijms21165651. 2020
IN-SILICO AND IN VITRO STUDY OF MUTATIONS THAT ALTER THE SPLICING PROCESS IN PATIENTS WITH MYELODISPLASIC SYNDROMES
Boluda-Navarro, M.; (...); Cervera, J.
Meeting Abstract. 2019
INSM1 immunohistochemical expression in a large cohort of Ewing sarcoma family of tumours
Llombart-Bosch, A; (...); Picci, P
Meeting Abstract. 2019
Involvement of the coagulation system in hereditary angioedema
Echevarria, EI; (...); De Rojas, DHF
Meeting Abstract. 2018
Long-term prospective results of the Spanish multicentre experience using recirculant hyperthermic MMC with Combat BRS HIVEC system
Guerrero-Ramos, F.; (...); Angulo-Cuesta, J.
Meeting Abstract. 2022
MASS SEQUENCING DIRECTED TO THE STUDY OF REARRANGEMENTS AND CHANGES IN GENIC EXPRESSION IN ACUTE MYELOID LEUKEMIA
Sargas Simarro, C.; (...); Barragan Gonzalez, E.
Meeting Abstract. 2019
microRNAs and Markers of Neutrophil Activation as Predictors of Early Incidental Post-Surgical Pulmonary Embolism in Patients with Intracranial Tumors
Article. 10.3390/cancers12061536. 2020
MicroRNAs and Neutrophil Activation Markers Predict Venous Thrombosis in Pancreatic Ductal Adenocarcinoma and Distal Extrahepatic Cholangiocarcinoma.
Article. 10.3390/ijms21030840. 2020
MODELING OF IDH2 GENE MUTATIONS IN THE CAENORHABDITIS ELEGANS ORGANISM. DEVELOPMENT OF A NEW STUDY MODEL
Gonzalez-Romero, E.; (...); Cervera-Zamora, J.
Meeting Abstract. 2021
MOLECULAR APPROACH TO CHRONIC LYMPHOPROLIFERATIVE SYNDROMES IN THE DAILY CLINICAL PRACTICE OF A SINGLE CENTER
Mariam, Ibanez; (...); Irene, Luna
Meeting Abstract. 2021
MOLECULAR CHARACTERIZATION OF PATIENTS WITH HEREDITARY MYELOID NEOPLASIAS THROUGH MASS SEQUENCING
Pardo-Lorente, N.; (...); Cervera, J.
Meeting Abstract. 2018
MOLECULAR CHARACTERIZATION OF VARIANTS THAT ALTER SPLICING (VAS) IN PATIENTS WITH MYELODYSPLASIC SYNDROMES
Boluda-Navarro, M.; (...); Cervera, J.
Meeting Abstract. 2020
OPTIMIZATION OF THE EFFICIENCY OF GENETIC EDITING OF HEMAPOYETIC PROGENITOR CELLS USING CRISPR/CAS9 RIBONUCLEOPROTEINS
Martinez-Valiente, C.; (...); Sanjuan-Pla, A.
Meeting Abstract. 2019
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Pharmacological modulation of CXCR4 cooperates with BET bromodomain inhibition in diffuse large B-cell lymphoma
Recasens-Zorzo, C; (...); Roui, G
Article. 10.3324/haematol.2017.180505. 2019
PLASMATIC DNA STIMULATES THE GENERATION OF IN VITRO THROMBIN EVEN IN THE ABSENCE OF EXTRINSIC TISSUE FACTOR AND CAN BE REVERSED WITH DNA'S
Fernandez-Pardo, A.; (...); Medina, P.
Meeting Abstract. 2019
PROPOSED MOLECULAR CLASSIFICATION OF ACUTE MYELOBLASTIC LEUKEMIA (AML) BASED ON SPLICING EVENTS
Liquori, A.; (...); Cervera Zamora, J.
Meeting Abstract. 2021
REAL-LIFE EFFICACY OF A MULTI-INGREDIENT CORIOLUS VERSICOLOR-BASED VAGINAL GEL IN HIGH-RISK HPV PATIENTS: THE PAPILOBS STUDY FINAL RESULTS
Gaslain, Y.; (...); Sanmartin, P.
Meeting Abstract. 10.1136/ijgc-2021-ESGO.553. 2021
REMOVAL OF GERMINAL LINE MUTATIONS IN PATIENTS WITH MDS AND AML: WHO SHOULD BE PERFORMED?
Santiago, Marta; (...); Cervera, Jose
Meeting Abstract. 2020
Repair of the prevalent c.2299delG mutation in the USH2A gene using CRISPR/Cas9 nucleases
Fuster-Garcia, C; (...); Aller, E
Meeting Abstract. 2018
RNA Sequencing Analysis for the Identification of a PCM1/PDGFRB Fusion Gene Responsive to Imatinib
Such, E; (...); Cervera, J
Article. 10.1159/000497348. 2019
Screening of microRNAs as possible biomarkers in abdominal aortic aneurysm
Plana, E; (...); Miralles, M
Article. 10.1016/j.angio.2017.09.001. 2018
SEQUENCING OF THE EXOME IN THE RECALLING OR REFRACTORY AML
Simarro Claudia, Sargas; (...); Eva, Barragan
Meeting Abstract. 2021
STUDY OF TRANSCRIPTIONAL DIFFERENCES BETWEEN THE IDH2 R140 AND R172 MUTATIONS BY MEANS OF MODELING IN THE ORGANISM CAENORHABDITIS ELEGANS
Gonzalez, Romero Elisa; (...); Cervera, Jose Vicente
Meeting Abstract. 2020
SUSPENSION OF TREATMENT WITH BCR-ABL INHIBITORS IN PATIENTS WITH CHRONIC MYELOID LEUKEMIA IN DEEP MOLECULAR RESPONSE WITHIN OF THE CLINICAL ASSISTANCE PRACTICE: SPANISH EXPERIENCE IN A TOTAL OF 236 CASES
Pastor Galan, I.; (...); Hernandez Boluda, J. C.
Meeting Abstract. 2018
The "Never-Ending" Mouse Models for MLL-Rearranged Acute Leukemia Are Still Teaching Us
Ottersbach, Katrin; (...); Menendez, Pablo
Editorial Material. 10.1097/HS9.0000000000000057. 2018
The modular network structure of the mutational landscape of Acute Myeloid Leukemia
Ibanez, M; (...); Cervera, J
Article. 10.1371/journal.pone.0202926. 2018
TRANSCRIPTOMICAL ANALYSIS AND MODELING IN C.ELEGANS OF THE IDH2 R140 R172 MUTATION
Gonzalez-Romero, E.; (...); Cervera-Zamora, J., V
Meeting Abstract. 2019
Urinary microRNAs: Looking for a New Tool in Diagnosis, Prognosis, and Monitoring of Renal Cancer
Article. 10.1007/s11934-020-0962-9. 2020
Urine metabolomic analysis in clear cell and papillary renal cell carcinoma: A pilot study
Article. 10.1016/j.jprot.2020.103723. 2020
USE OF CRISPR/CAS9 TECHNOLOGY TO MODIFY THE IDH2 GENE IN BOTH IN-VIVO AND IN-VITRO MODELS
Gonzalez Romero, E.; (...); Cervera, J., V
Meeting Abstract. 2018
Use of optical genome mapping in the cytogenetic diagnosis of multiple myeloma
de la Rubia, Javier; (...); Such, Esperanza
Meeting Abstract. 2023
Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases
Orellana, Carmen; (...); Martinez, Francisco
Article. 10.3390/ijms26031244. 2025
VALIDATION OF A MODEL WITH COAGULATION-RELATED MARKERS FOR THE DIAGNOSIS OF PROSTHETIC JOINT INFECTION
Oto, J.; (...); Medina, P.
Meeting Abstract. 2019
VALIDATION OF A PANEL OF GENES BY MASSIVE SEQUENCING FOR THE SCREENING OF GERMINAL MUTATIONS IN GENES ASSOCIATED WITH HEREDITARY MYELOID NEOPLASMS
Ibanez, M.; (...); Cervera, J., V
Meeting Abstract. 2019
VALIDATION OF FREQUENT SPLICING EVENTS IN ACUTE MYELOID LEUKEMIA WITH POTENTIAL TO GENERATE NEOANTIGENS
Beatriz, Fernandez-Blanco; (...); Jose Vicente, Cervera Zamora
Meeting Abstract. 2021
Vitronectin as a molecular player of the tumor microenvironment in neuroblastoma
Burgos-Panadero, R; (...); Noguera, R
Article. 10.1186/s12885-019-5693-2. 2019
WHOLE GENE SEQUENCING FOR THE IDENTIFICATION OF SPLICING MUTATIONS IN PATIENTS WITH ACUTE MYELOID LEUKEMIA (AML)
Mireya, Morote-Faubel; (...); Jose, Cervera
Meeting Abstract. 2021