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Showing 1–6 of 6 results
Advanced filters: Author: Silvia Villahoz Clear advanced filters

  • Constitutive deletion of Rcan1 has been previously shown to prevent Angiotensin II-induced aneurysm in mice. Here the authors show that tissue-specific inducible deletion of Rcan1 in vascular cell types predisposes to hypertension-mediated aortic rupture, intramural hematoma, and aneurysm, due to increased GSK-3b-mediated activation of ROCK and induction of a hypercontractile phenotype.

    • Silvia Villahoz
    • Paula Sofía Yunes-Leites
    • Miguel R. Campanero
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-16

  • Loss of the metalloproteinase Adamts1 leads to aortic pathology in mice due to increased NOS2-dependent NO production. Decreased Adamts1 expression, associated with increased NOS2 expression, occurs in Marfan syndrome (MFS) mice and in MFS patients, and NOS2 inhibition prevents and reverses aortic pathology in MFS mice.

    • Jorge Oller
    • Nerea Méndez-Barbero
    • Juan Miguel Redondo
    Research
    Nature Medicine
    Volume: 23, P: 200-212

  • Genomic approaches in more than 500 patients are used to extend the number of chronic lymphocytic leukaemia (CLL) driver alterations, and also identify novel recurrent mutations in non-coding regions, including an enhancer of PAX5 and the 3′ untranslated region of NOTCH1, which lead to aberrant splicing events, increased NOTCH1 protein stability and activity, and an adverse clinical outcome.

    • Xose S. Puente
    • Silvia Beà
    • Elías Campo
    Research
    Nature
    Volume: 526, P: 519-524

  • José Martin-Subero and colleagues report whole-genome bisulfite sequencing and methylome analysis of two CLLs and three B-cell subpopulations using high-density microarrays on 139 CLLs. They identify widespread hypomethylation in the gene body that is largely associated with intragenic enhancer elements.

    • Marta Kulis
    • Simon Heath
    • José I Martín-Subero
    Research
    Nature Genetics
    Volume: 44, P: 1236-1242

  • Carlos López-Otín, Elías Campo and colleagues report exome sequencing of tumor and normal samples from 105 individuals with chronic lymphocytic leukemia (CLL). They identify 1,246 somatic mutations predicted to affect gene function and 78 genes with recurrent predicted functional mutations. They find recurrent mutations in the gene encoding the SF3B1 splicing factor, which was mutated in 10% of the CLL samples.

    • Víctor Quesada
    • Laura Conde
    • Carlos López-Otín
    Research
    Nature Genetics
    Volume: 44, P: 47-52