User profiles for M. Tardaguila

Manuel Tardaguila

Verified email at sanger.ac.uk
Cited by 1268

[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases

…, T Jiang, MH Chen, LM Raffield, M Tardaguila… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
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…

Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases

K Kundu, M Tardaguila, AL Mann, S Watt, H Ponstingl… - Nature …, 2022 - nature.com
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 …

[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 …

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 …

[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 …

[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 …

[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 …

[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…

[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 : …