Jesús María Hernández-Sánchez
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View article: Molecular profiling of pre- and post- 5-azacytidine myelodysplastic syndrome samples identifies predictors of response
Molecular profiling of pre- and post- 5-azacytidine myelodysplastic syndrome samples identifies predictors of response Open
Treatment with the hypomethylating agent 5-azacytidine (AZA) increases survival in high-risk (HR) myelodysplastic syndrome (MDS) patients, but predicting patient response and overall survival remains challenging. To address these issues, w…
View article: Outcomes and effect of somatic mutations after erythropoiesis stimulating agents in patients with lower-risk myelodysplastic syndromes
Outcomes and effect of somatic mutations after erythropoiesis stimulating agents in patients with lower-risk myelodysplastic syndromes Open
Background: Erythropoiesis stimulating agents (ESAs) are the first-line therapy in patients with lower-risk myelodysplastic syndromes (LR-MDS). Some predictive factors for ESAs response have been identified. Type and number of somatic muta…
View article: Additional file 3 of RNA sequencing identifies novel regulated IRE1-dependent decay targets that affect multiple myeloma survival and proliferation
Additional file 3 of RNA sequencing identifies novel regulated IRE1-dependent decay targets that affect multiple myeloma survival and proliferation Open
Additional file 3: Table S2. List of differential usage of exons from RNA-seq.
View article: Gut microbiota composition and arterial stiffness measured by pulse wave velocity: case–control study protocol (MIVAS study)
Gut microbiota composition and arterial stiffness measured by pulse wave velocity: case–control study protocol (MIVAS study) Open
Introduction Intestinal microbiota is arising as a new element in the physiopathology of cardiovascular diseases. A healthy microbiota includes a balanced representation of bacteria with health promotion functions (symbiotes). The aim of t…
View article: Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia Open
The development of Next-Generation Sequencing (NGS) has provided useful diagnostic, prognostic, and therapeutic strategies for individualized management of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) patients. Consequently, NGS…
View article: Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients
Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients Open
Background: B-acute lymphoblastic leukemia (B-ALL) is a hematological neoplasm of the stem lymphoid cell of the B lineage, characterized by the presence of genetic alterations closely related to the course of the disease. The number of alt…
View article: Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia
Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia Open
Myelodysplastic syndromes (MDS) are hematological disorders at high risk of progression to secondary acute myeloid leukemia (sAML). However, the mutational dynamics and clonal evolution underlying disease progression are poorly understood …
View article: Distinct mutational pattern of myelodysplastic syndromes with and without 5q– treated with lenalidomide
Distinct mutational pattern of myelodysplastic syndromes with and without 5q– treated with lenalidomide Open
Myelodysplastic syndromes (MDS) are a heterogeneousgroup of clonal stem cell disorders characterised by ineffec-tive haematopoiesis leading to peripheral blood cytopeniasand an increased risk of transformation to acute myeloid leu-kaemia (…
View article: ETV6/RUNX1 Fusion Gene Abrogation Decreases the Oncogenicity of Tumour Cells in a Preclinical Model of Acute Lymphoblastic Leukaemia
ETV6/RUNX1 Fusion Gene Abrogation Decreases the Oncogenicity of Tumour Cells in a Preclinical Model of Acute Lymphoblastic Leukaemia Open
Background: The t(12;21)(p13;q22), which fuses ETV6 and RUNX1 genes, is the most common genetic abnormality in children with B-cell precursor acute lymphoblastic leukaemia. The implication of the fusion protein in leukemogenesis seems to b…
View article: Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia
Spanish Guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia Open
Summary The landscape of medical sequencing has rapidly changed with the evolution of next generation sequencing (NGS). These technologies have contributed to the molecular characterization of the myelodysplastic syndromes (MDS) and chroni…
View article: PF357 A NOVEL REFINED PROGNOSTIC MODEL FOR CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS COMBINING IGH TRANSLOCATIONS AND NEXT-GENERATION SEQUENCING
PF357 A NOVEL REFINED PROGNOSTIC MODEL FOR CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS COMBINING IGH TRANSLOCATIONS AND NEXT-GENERATION SEQUENCING Open
Background: Chromosome 14q32 translocations involving the immunoglobulin heavy chain gene (IGH) are uncommon in chronic lymphocytic leukemia (CLL) patients. The outcome of CLL patients with IGH translocations (IGHR) is controversial. Moreo…
View article: PF533 MUTATIONS ON COHESIN COMPLEX ARE ASSOCIATED TO A POOR PROGNOSIS IN LOW‐RISK MYELODYSPLASTIC SYNDROMES PATIENTS
PF533 MUTATIONS ON COHESIN COMPLEX ARE ASSOCIATED TO A POOR PROGNOSIS IN LOW‐RISK MYELODYSPLASTIC SYNDROMES PATIENTS Open
Background: Mutations in cohesin complex genes have been described commonly in several types of cancer, with an incidence of 8% in myeloid diseases and myelodysplastic syndromes (MDS), and have been linked to marrow fibrosis by our group i…
View article: S896 SYNTHETIC LETHAL EFFECTS OF DUAL BCR AND PARP INHIBITION IN PROLIFERATIVE DEL(11Q) CLL CELLS IN THE PRESENCE OF STROMAL STIMULATION
S896 SYNTHETIC LETHAL EFFECTS OF DUAL BCR AND PARP INHIBITION IN PROLIFERATIVE DEL(11Q) CLL CELLS IN THE PRESENCE OF STROMAL STIMULATION Open
Background: Loss of the long arm of chromosome 11, del(11q), is one of the most common alterations in CLL. ATM gene is mutated in the remaining allele in one third of del(11q) CLL patients, resulting in a complete loss‐of‐function of ATM p…
View article: Splice donor site sgRNAs enhance CRISPR/Cas9-mediated knockout efficiency
Splice donor site sgRNAs enhance CRISPR/Cas9-mediated knockout efficiency Open
CRISPR/Cas9 allows the generation of knockout cell lines and null zygotes by inducing site-specific double-stranded breaks. In most cases the DSB is repaired by non-homologous end joining, resulting in small nucleotide insertions or deleti…
View article: Transcriptomic analysis of patients with immune thrombocytopenia treated with eltrombopag
Transcriptomic analysis of patients with immune thrombocytopenia treated with eltrombopag Open
In the last years, the use of thrombopoietin receptor agonists (TPO-RA), eltrombopag and romiplostim, has improved the management of immune thrombocytopenia (ITP). Moreover, eltrombopag is also active in patients with aplastic anemia and m…
View article: Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude <scp>MDS</scp> in patients with anemia of uncertain etiology
Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude <span>MDS</span> in patients with anemia of uncertain etiology Open
Introduction Diagnosis of myelodysplastic syndromes ( MDS s) when anemia is the only abnormality can be complicated. The aim of our study was to investigate the primary causes of anemia and/or macrocytosis of uncertain etiology. Methods We…
View article: Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders Open
Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until …
View article: FISHing in the dark: How the combination of FISH and conventional karyotyping improves the diagnostic yield in CpG‐stimulated chronic lymphocytic leukemia
FISHing in the dark: How the combination of FISH and conventional karyotyping improves the diagnostic yield in CpG‐stimulated chronic lymphocytic leukemia Open
Despite significant advances in molecular genetic approaches, fluorescence in situ hybridization (FISH) remains the gold standard for the diagnostic evaluation of genomic aberrations in patients with chronic lymphocytic leukemia (CLL). Eff…
View article: Pharmacogenetics and pharmacogenomics as tools in cancer therapy
Pharmacogenetics and pharmacogenomics as tools in cancer therapy Open
Pharmacogenetics and pharmacogenomics (PGx) are rapidly growing fields that aim to elucidate the genetic basis for the interindividual differences in drug response. PGx approaches have been applied to many anticancer drugs in an effort to …