Portal de recerca
Splicing aberrante en neoplasias mieloides: una estrategia integral para la interpretación de las variantes genéticas, su validación funcional y su modulación con fines terapéuticos.
Dades bàsiques
- Protocol:
- 2018_0492_CRC_CERVERA
- EURDRACT:
- NCT:
- Centre:
- Any inici:
- 2019
- Any de finalització:
- 2020
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
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
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
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
Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations.
Kozyra, EJ; (...); Wlodarski, MW
Article. 10.1182/blood.2021012781. 2021
Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.
Gil, Jose Vicente; (...); Llop, Marta
Article. 10.3390/ijms26010357. 2025
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 of a trichohepatoenteric syndrome due to heterozygous compound of novel mutations in ttc37 gen
Polo, B.; (...); Cervera, J.
Meeting Abstract. 2019
CASE REPORT OF SHAAF-YANG SYNDROME WITH A DE NOVO MUTATION IN MAGEL2 GEN
Pi, G.; (...); Cervera, J.
Meeting Abstract. 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 and molecular characterization by next generation sequencing of Spanish patients affected by congenital deficiencies of fibrinogen.
Moret, A; (...); Bonanad, S
Letter. 10.1016/j.thromres.2019.06.015. 2019
Clinical Utility of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia Diagnostics
Alonso, CM; (...); Barragan, E
Article. 10.1016/j.jmoldx.2018.09.009. 2019
COMPARISON OF THREE PANELS OF NGS APPLICATION IN ONCOHEMATOLOGY TO DISCARD SOMATIC AND/OR GERMINAL VARIANTS
Guzman-Gimenez, C.; (...); Such, E.
Meeting Abstract. 2021
Complex Karyotype with >= 3 Cytogenetic Alterations is a New Marker of Worse Prognosis in Adult T-Cell Acute Lymphoblastic Leukemia (T-ALL)
Genesca, Eulalia; (...); Maria Ribera, Josep
Meeting Abstract. 2020
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
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
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 THE GENOMIC AND TRANSCRIPTOMIC PROFILE OF THE ACUTE MYELOID LEUKEMIA (AML) SUBGROUP "CHROMATIN-SPLICEOSOME"
Alessandro, Liquori; (...); Zamora Jose, Cervera
Meeting Abstract. 2020
Chronic graft-versus-host disease could ameliorate the impact of adverse somatic mutations in patients with myelodysplastic syndromes and hematopoietic stem cell transplantation.
Caballero JC; (...); Díez Campelo M
Article. 10.1007/s00277-019-03751-6. 2019
Dexamethasone does not prevent malignant cell reintroduction in leukemia patients undergoing ovarian transplant: risk assessment of leukemic cell transmission by a xenograft model
Diaz-Garcia, C; (...); Pellicer, A
Article. 10.1093/humrep/dez115. 2019
Early-Onset Myelodysplastic Syndromes (MDS) with Ring Sideroblasts (RS) without SF3B1 Mutations in Adults: Enrichment with Germline Variants in Genes Responsible for Congenital Sideroblastic Anemias
Jauregui, Sandra Novoa; (...); Jerez, Andres
Meeting Abstract. 10.1182/blood-2023-185836. 2023
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
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
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
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
Genomic characterization of patients with polycythemia vera developing resistance to hydroxyurea.
Alvarez-Larrán A; (...); Hernández-Boluda JC
Letter. 10.1038/s41375-020-0849-2. 2020
Genotype FBN1/Phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A; (...); Sepúlveda P
Article. 10.1111/cge.13879. 2020
Germline assessment for alloHSCT candidates over 50 years: A 'Fast-Track' screening in myeloid neoplasms.
Torres-Esquius S; (...); Jerez A
Article. 10.1111/bjh.19460. 2024
Germline Predisposition in Myeloid Neoplasms Aged =50: A Novel Approach for Allogeneic Stem Cell -Transplantation Decision-Making
Torres-Esquius, Sara; (...); Jerez, Andres
Meeting Abstract. 10.1182/blood-2023-179234. 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
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia.
Vega-Garcia N; (...); Camós M
Article. 10.3390/jpm10040244. 2020
Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude MDS in patients with anemia of uncertain etiology
Bastida, JM; (...); Diez-Campelo, M
Article. 10.1111/ijlh.12933. 2019
IMPACT OF ALLELIC STATUS OF TP53 MUTATIONS IN ACUTE MYELOID LEUKEMIA (AML)
Ibanez, Mariam; (...); Sanz, Guillermo
Meeting Abstract. 2020
Impact of combinations of single-nucleotide polymorphisms of anthracycline transporter genes upon the efficacy and toxicity of induction chemotherapy in acute myeloid leukemia.
Megías-Vericat JE; (...); Montesinos P
Article. 10.1080/10428194.2020.1839650. 2020
Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7.
Crisà E; (...); Mufti GJ
Article. 10.1038/s41375-020-0728-x. 2020
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
Implications ofTP53allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes
Bernard, E; (...); Papaemmanuil, E
Article. 10.1038/s41591-020-1008-z. 2020
IN VIVO MODELS TO STUDY THE COOPERATION BETWEEN SPLICING AND DNA METHYLATION IN MYELODYSPLASTIC SYNDROMES
Martinez-Valiente, Cristina; (...); Sanjuan-Pla, Alejandra
Meeting Abstract. 2020
Incidence and outcome of invasive fungal disease after front-line intensive chemotherapy in patients with acute myeloid leukemia: impact of antifungal prophylaxis.
Rodríguez-Veiga R; (...); Sanz GF
Article. 10.1007/s00277-019-03744-5. 2019
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
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
JUVENILE MYELOMONOCITIC LEUKEMIA IN PATIENTS WITH NOONAN SYNDROME AND NOONAN-LIKE SYNDROMES: EXPERIENCE OF THE SPANISH YOUTH MYELOMONOCITIC LEUKEMIA REGISTRATION
Arques Martinez, L.; (...); Catala Temprano, A.
Meeting Abstract. 2019
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
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 and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Sirenko, Maria; (...); Papaemmanuil, Elli
Article. 10.1182/blood.2023023723. 2024
MOLECULAR CHARACTERIZATION OF VARIANTS THAT ALTER SPLICING (VAS) IN PATIENTS WITH MYELODYSPLASIC SYNDROMES
Boluda-Navarro, M.; (...); Cervera, J.
Meeting Abstract. 2020
Molecular Taxonomy of Myelodysplastic Syndromes and Its Clinical Implications
Bernard, Elsa; (...); Papaemmanuil, Elli
Meeting Abstract. 10.1182/blood-2023-186863. 2023
Molecular Taxonomy of Myelodysplastic Syndromes and its Clinical Implications.
Bernard, Elsa; (...); Papaemmanuil, Elli
Article. 10.1182/blood.2023023727. 2024
Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency.
Romero-Moya, Damia; (...); Giorgetti, Alessandra
Article. 10.1038/s41375-025-02519-4. 2025
Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency.
Moret, A; (...); Bonanad, S
Article. 10.1007/s11239-019-01911-z. 2019
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
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
REMOVAL OF GERMINAL LINE MUTATIONS IN PATIENTS WITH MDS AND AML: WHO SHOULD BE PERFORMED?
Santiago, Marta; (...); Cervera, Jose
Meeting Abstract. 2020
RNA Sequencing Analysis for the Identification of a PCM1/PDGFRB Fusion Gene Responsive to Imatinib
Such, E; (...); Cervera, J
Article. 10.1159/000497348. 2019
SJOGREN-LARSSON SYNDROME IN TWO SISTERS WITH AN INTRONIC VARIANT OF ALDH3A2 GENE: CLINICAL FINDINGS
Fernandez, F.; (...); Cervera, J.
Meeting Abstract. 2019
Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia.
Palomo L; (...); Such E
Article. 10.1111/bjh.16175. 2020
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
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago, Marta; (...); Cervera, Jose
Article. 10.3390/cancers15051590. 2023
Time and Cost of Hospitalisation for Salvage Therapy in Adults with Philadelphia Chromosome-Negative B Cell Precursor Relapsed or Refractory Acute Lymphoblastic Leukaemia in Spain
Boluda, B; (...); Montesinos, P
Article. 10.1007/s41669-018-0098-8. 2019
TP53 State Dictates Genome Stability, Clinical Presentation and Outcomes in Myelodysplastic Syndromes
Bernard, Elsa; (...); Papaemmanuil, Elli
Meeting Abstract. 10.1182/blood-2019-129392. 2019
TRANSCRIPTOMICAL ANALYSIS AND MODELING IN C.ELEGANS OF THE IDH2 R140 R172 MUTATION
Gonzalez-Romero, E.; (...); Cervera-Zamora, J., V
Meeting Abstract. 2019
TRANSLOCATIONS IN THERAPY-RELATED MYELODYSPLASTIC SYNDROMES: REVIEW OF 69 PATIENTS FROM THE SPANISH SMD GROUP DATABASE WITH AN EVALUABLE KARYOTYPE
Grau, Javier; (...); Granada, Isabel
Meeting Abstract. 2020
UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes
Sirenko, Maria; (...); Papaemmanuil, Elli
Meeting Abstract. 10.1182/blood-2023-182949. 2023
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
Vulnerabilities in mIDH2 AML confer sensitivity to APL-like targeted combination therapy
Mugoni, V; (...); Pandolfi, PP
Article. 10.1038/s41422-019-0162-7. 2019