Search Results - "Mínguez, Sandra Santos"
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Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia
Published in Haematologica (Roma) (01-08-2021)“…Myelodysplastic syndromes (MDS) are hematological disorders at high risk of progression to secondary acute myeloid leukemia (sAML). However, the mutational…”
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Lifestyles, arterial aging, and its relationship with the intestinal and oral microbiota (MIVAS III study): a research protocol for a cross-sectional multicenter study
Published in Frontiers in public health (29-06-2023)“…The microbiota is increasingly recognized as a significant factor in the pathophysiology of many diseases, including cardiometabolic diseases, with lifestyles…”
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Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Published in Blood (26-01-2023)“…•GALE is expressed during late-stage megakaryopoiesis, regulating the glycosylation and surface exposure of GPIbα and β1 integrin.•Novel GALE variants cause…”
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Gut microbiota and its relationship with early vascular ageing in a Spanish population (MIVAS study)
Published in European journal of clinical investigation (01-09-2024)“…Background Gut microbiota and its by‐products are increasingly recognized as having a decisive role in cardiovascular diseases. The aim is to study the…”
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TRAF3 alterations are frequent in del‐3′IGH chronic lymphocytic leukemia patients and define a specific subgroup with adverse clinical features
Published in American journal of hematology (01-07-2022)“…Interstitial 14q32 deletions involving IGH gene are infrequent events in chronic lymphocytic leukemia (CLL), affecting less than 5% of patients. To date,…”
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Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients
Published in Annals of hematology (01-08-2021)“…SF3B1 is a highly mutated gene in myelodysplastic syndrome (MDS) patients, related to a specific subtype and parameters of good prognosis in MDS without excess…”
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Gut microbiota composition and arterial stiffness measured by pulse wave velocity: case–control study protocol (MIVAS study)
Published in BMJ open (11-02-2021)“…IntroductionIntestinal microbiota is arising as a new element in the physiopathology of cardiovascular diseases. A healthy microbiota includes a balanced…”
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ZMYM3 Mutations Cooperate with NOTCH1 Alterations, Reduce Histone H4 Acetylation and Promote Apoptosis Evasion in Chronic Lymphocytic Leukemia
Published in Blood (02-11-2023)“…Introduction: Recent next-generation sequencing (NGS) studies have identified up to 200 recurrently mutated genes in chronic lymphocytic leukemia (CLL), the…”
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Mutually-Exclusive Pathways between IKZF1plus and RAS Mutations and TP53 double-Hit Alterations Lead Relapse in B-Other, Ph-like and Hyperdiploidy Genetic Groups in Adult B-Cell Acute Lymphoblastic Leukemia
Published in Blood (02-11-2023)“…Introduction: Adult B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a hematologic malignancy characterized by a high genetic heterogeneity and high…”
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Mutually-Exclusive Pathways between IKZF1 plus and RAS Mutations and TP53 double-Hit Alterations Lead Relapse in B-Other, Ph-like and Hyperdiploidy Genetic Groups in Adult B-Cell Acute Lymphoblastic Leukemia
Published in Blood (02-11-2023)“…Introduction: Adult B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a hematologic malignancy characterized by a high genetic heterogeneity and high…”
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Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia
Published in Blood (23-11-2021)“…Introduction Inherited thrombocytopenias (ITs) are a heterogeneous group of rare platelet disorders. which lead not only to increased bleeding, but also to…”
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Sequential Study By RNA-Seq Shows a Reduction in Inflammation and a Cell Cycle Activation in T-Lymphocytes from Myelodysplastic Syndrome with Del(5q) after Lenalidomide Treatment in Patients Included in the “Sintra-REV” Clinical Trial
Published in Blood (05-11-2020)“…Introduction: Lenalidomide is a potent drug with pleiotropic effects in patients with myelodysplastic syndrome (MDS) with deletion of the long arm of…”
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Clinical and Biological Impact of TP53 Alterations in Del(11q) Chronic Lymphocytic Leukemia
Published in Blood (05-11-2020)“…Large-scale next-generation sequencing (NGS) studies have suggested common patterns of co-occurrence or mutual exclusivity between genetic alterations in…”
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Genomic Instability and a Preferential Involvement of Ras Pathway in the Myelodysplastic Syndromes Evolution to Secondary Acute Myeloid Leukemia
Published in Blood (29-11-2018)“…Myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML) are hematological disorders at high risk of progression to acute myeloid leukemia…”
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Chronic Lymphocytic Leukemia Patients with IGH Rearrangements Are Characterized By a Distinct Genetic Landscape with Prognostic Implications
Published in Blood (29-11-2018)“…Background: Chromosome 14q32 rearrangements involving the immunoglobulin heavy chain gene (IGH) affect less than 5% of chronic lymphocytic leukemia (CLL)…”
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TRAF3 alterations are frequent in del-3'IGH chronic lymphocytic leukemia patients and define a specific subgroup with adverse clinical features
Published in American journal of hematology (01-07-2022)“…Interstitial 14q32 deletions involving IGH gene are infrequent events in chronic lymphocytic leukemia (CLL), affecting less than 5% of patients. To date,…”
Get full text
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Dissecting the role of TP53 alterations in del(11q) chronic lymphocytic leukemia
Published in Clinical and translational medicine (01-02-2021)“…Background Several genetic alterations have been identified as driver events in chronic lymphocytic leukemia (CLL) pathogenesis and oncogenic evolution…”
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