Cancer Center Clínica Universidad de Navarra (CCUN)
Centro clínico de la Universidad de Navarra
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (33)
2024
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NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders
Nucleic Acids Research, Vol. 52, Núm. 9, pp. e44
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Profile of plasma microRNAs as a potential biomarker of Wilson’s disease
Journal of Gastroenterology, Vol. 59, Núm. 10, pp. 921-931
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Relationship between sex, APOE genotype, endocannabinoids and cognitive change in older adults with metabolic syndrome during a 3-year Mediterranean diet intervention
Nutrition Journal, Vol. 23, Núm. 1
2023
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Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package
Epigenetics, Vol. 18, Núm. 1
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Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Molecular Genetics and Metabolism Reports, Vol. 35
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Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia
Haematologica, Vol. 108, Núm. 10, pp. 2652-2663
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
PloS one, Vol. 18, Núm. 7, pp. e0287515
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Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study
The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159
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Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi
Molecular Therapy Nucleic Acids, Vol. 34
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine, Vol. 15, Núm. 1
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The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent
Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895
2022
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Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children's blood
eLife, Vol. 11
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The early-life exposome modulates the effect of polymorphic inversions on DNA methylation
Communications Biology, Vol. 5, Núm. 1
2021
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Anti-TGFβ (Transforming Growth Factor β) Therapy With Betaglycan-Derived P144 Peptide Gene Delivery Prevents the Formation of Aortic Aneurysm in a Mouse Model of Marfan Syndrome
Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 41, Núm. 9, pp. E440-E452
2020
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Epigenetic SmAd3 repression in tumor-associated fibroblasts impairs fibrosis and response to the antifibrotic drug nintedanib in lung squamous cell carcinoma
Cancer Research, Vol. 80, Núm. 2, pp. 276-290
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Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits
Genome Research, Vol. 31, Núm. 12, pp. 1802-1814
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Maintenance therapy with ex vivo expanded lymphokine-activated killer cells and rituximab in patients with follicular lymphoma is safe and may delay disease progression
British Journal of Haematology, Vol. 189, Núm. 6, pp. 1064-1073
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Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases
American Journal of Human Genetics, Vol. 106, Núm. 6, pp. 846-858
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Vaginal metabolome: towards a minimally invasive diagnosis of microbial invasion of the amniotic cavity in women with preterm labor
Scientific Reports, Vol. 10, Núm. 1
2019
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Corrigendum to “A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration” [Biochim. Biophys. Acta 1863 (2017) 801–809](S0925443917300078)(10.1016/j.bbadis.2017.01.003)
Biochimica et Biophysica Acta - Molecular Basis of Disease