Portal de recerca
Investigando el efecto funcional de las alteraciones de splicing y explorando su potencial terapéutico en la Leucemia Mieloblástica Aguda (LMA)
Dades bàsiques
- Protocol:
- ACIF/2020/356
- EURDRACT:
- NCT:
- Centre:
- Any inici:
- 2020
- Any de finalització:
- 2023
Documents
- No hi ha documents
Participants
Grups d'Investigació
Finançadors - Promotors
Resultats de l'Assaig Clínic
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
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
Acute Promyelocytic Leukemia: A Constellation of Molecular Events around a Single PML-RARA Fusion Gene (vol 12, 624, 2020)
Article. 10.3390/cancers13143440. 2021
Adverse prognostic impact of complex karyotype (>= 3 cytogenetic alterations) in adult T-cell acute lymphoblastic leukemia (T-ALL)
Genesca, E; (...); Ribera, JM
Article. 10.1016/j.leukres.2021.106612. 2021
Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations.
Kozyra, EJ; (...); Wlodarski, MW
Article. 10.1182/blood.2021012781. 2021
Author Correction: Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.
Bernard E; (...); Papaemmanuil E
Correction. 10.1038/s41591-021-01253-5. 2021
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
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
Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping.
Diaz-Gonzalez, Alvaro; (...); Such, Esperanza
Article. 10.3390/cancers15113039. 2023
Characteristics and Outcome of Patients with Acute Myeloid Leukemia and Trisomy 4
Kayser, Sabine; (...); Schlenk, Richard F.
Meeting Abstract. 10.1182/blood-2021-150281. 2021
Characteristics and outcome of patients with acute myeloid leukemia and trisomy 4.
Kayser, Sabine; (...); Schlenk, Richard F.
Meeting Abstract. 10.3324/haematol.2022.281137. 2022
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency.
Marin-Bejar, Oskar; (...); Giorgetti, Alessandra
Article. 10.3324/haematol.2022.282305. 2023
ERCC6L2 in Early-Onset Adult Myelodysplastic Syndrome without Pre-Existing Disorder
Carrillo-Tornel, Salvador; (...); Jerez, Andres
Meeting Abstract. 10.1182/blood-2022-168759. 2022
Genome-wide association study identifies susceptibility loci for acute myeloid leukemia (vol 13, 2, 2022)
Lin, Wei-Yu; (...); Allan, James M.
Article. 10.1038/s41467-021-27679-6. 2022
GENOMIC AND TRANSCRIPTOMIC CHARACTERIZATION OF MYELODYSPLASTIC SYNDROMES/MYELOPROLIFERATIVE NEOPLASMS
Acha, P.; (...); Sole, F.
Meeting Abstract. 10.1016/j.leukres.2023.107253. 2023
GENOMIC CLASSIFICATION OF MYELODYSPLASTIC SYNDROMES
Bernard, E.; (...); Papaemmanuil, E.
Meeting Abstract. 10.1016/j.leukres.2023.107146. 2023
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
Healthcare resource utilization in adult patients with relapsed/refractory FLT3 mutated acute myeloid leukemia: A retrospective chart review from Spain.
Solana-Altabella A; (...); Montesinos P
Article. 10.1111/ejh.13604. 2021
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes (vol 26, pg 1549, 2020)
Bernard, Elsa; (...); Elias, Harold K
Article. 10.1038/s41591-021-01367-w. 2021
Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS
Sirenko, Maria; (...); Papaemmanuil, Elli
Meeting Abstract. 10.1182/blood-2022-162397. 2022
Influence of polymorphisms in anthracyclines metabolism genes in the standard induction chemotherapy of acute myeloid leukemia.
Megías-Vericat JE; (...); Montesinos P
Article. 10.1097/FPC.0000000000000431. 2021
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
Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients
Ibanez, Mariam; (...); Luna I
Article. 10.3390/diagnostics12040953. 2022
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
PROPOSED MOLECULAR CLASSIFICATION OF ACUTE MYELOBLASTIC LEUKEMIA (AML) BASED ON SPLICING EVENTS
Liquori, A.; (...); Cervera Zamora, J.
Meeting Abstract. 2021
Regions of homozygosity confer a worse prognostic impact in myelodysplastic syndrome with normal karyotype.
Mallo, Mar; (...); Sole, Francesc
Article. 10.1002/jha2.651. 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago, Marta; (...); Cervera, Jose
Article. 10.3390/cancers15051590. 2023
VALIDATION OF FREQUENT SPLICING EVENTS IN ACUTE MYELOID LEUKEMIA WITH POTENTIAL TO GENERATE NEOANTIGENS
Beatriz, Fernandez-Blanco; (...); Jose Vicente, Cervera Zamora
Meeting Abstract. 2021