User profiles for M. Tardaguila
Manuel TardaguilaVerified email at sanger.ac.uk Cited by 1268 |
[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
SQANTI: extensive characterization of long-read transcript sequences for quality control in full-length transcriptome identification and quantification
M Tardaguila, L De La Fuente, C Marti… - Genome …, 2018 - genome.cshlp.org
High-throughput sequencing of full-length transcripts using long reads has paved the way for
the discovery of thousands of novel transcripts, even in well-annotated mammalian species…
the discovery of thousands of novel transcripts, even in well-annotated mammalian species…
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases
The resolution of causal genetic variants informs understanding of disease biology. We used
regulatory quantitative trait loci (QTLs) from the BLUEPRINT, GTEx and eQTLGen projects …
regulatory quantitative trait loci (QTLs) from the BLUEPRINT, GTEx and eQTLGen projects …
[HTML][HTML] Safety and efficacy of 5-aminolevulinic acid for high grade glioma in usual clinical practice: a prospective cohort study
…, MÁ Arráez, G Villalba, R Garcia, M Tardáguila… - PloS one, 2016 - journals.plos.org
Background During the last decade, the use of 5-aminolevulinic acid (5-ALA) has been steadily
increasing in neurosurgery. The study's main objectives were to prospectively evaluate …
increasing in neurosurgery. The study's main objectives were to prospectively evaluate …
CX3CL1 promotes breast cancer via transactivation of the EGF pathway
M Tardáguila, E Mira, MA García-Cabezas, AM Feijoo… - Cancer research, 2013 - AACR
Chemokines are relevant molecules in shaping the tumor microenvironment, although their
contributions to tumorigenesis are not fully understood. We studied the influence of the …
contributions to tumorigenesis are not fully understood. We studied the influence of the …
[HTML][HTML] Genetic perturbation of PU. 1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
…, V Iotchkova, H Elding, D Mead, M Tardaguila… - Nature …, 2021 - nature.com
Neutrophils play fundamental roles in innate immune response, shape adaptive immunity,
and are a potentially causal cell type underpinning genetic associations with immune system …
and are a potentially causal cell type underpinning genetic associations with immune system …
[HTML][HTML] tappAS: a comprehensive computational framework for the analysis of the functional impact of differential splicing
L de la Fuente, Á Arzalluz-Luque, M Tardáguila… - Genome biology, 2020 - Springer
Recent advances in long-read sequencing solve inaccuracies in alternative transcript
identification of full-length transcripts in short-read RNA-Seq data, which encourages the …
identification of full-length transcripts in short-read RNA-Seq data, which encourages the …
[HTML][HTML] SOD3 improves the tumor response to chemotherapy by stabilizing endothelial HIF-2α
…, I Heras-Murillo, M Paz-Cabezas, M Tardáguila… - Nature …, 2018 - nature.com
One drawback of chemotherapy is poor drug delivery to tumor cells, due in part to
hyperpermeability of the tumor vasculature. Extracellular superoxide dismutase (SOD3) is an …
hyperpermeability of the tumor vasculature. Extracellular superoxide dismutase (SOD3) is an …
[HTML][HTML] A lovastatin-elicited genetic program inhibits M2 macrophage polarization and enhances T cell infiltration into spontaneous mouse mammary tumors
E Mira, L Carmona-Rodríguez, M Tardáguila… - Oncotarget, 2013 - ncbi.nlm.nih.gov
Beyond their ability to inhibit cholesterol biosynthesis, the statins have pleiotropic effects that
include anti-inflammatory and immunomodulatory activities. Statins could have clinical utility…
include anti-inflammatory and immunomodulatory activities. Statins could have clinical utility…
[HTML][HTML] The characteristics of heterozygous protein truncating variants in the human genome
…, P Mohammadi, M Tardaguila… - PLoS computational …, 2015 - journals.plos.org
… novo rate of synonymous mutations in a gene g and M is a constant. Following [12] we
estimate M from the regression of the observed number of synonymous mutations ( in a gene on : …
estimate M from the regression of the observed number of synonymous mutations ( in a gene on : …