Cancer Center Clínica Universidad de Navarra (CCUN)
Centro clínico de la Universidad de Navarra
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicacións en colaboración con investigadores/as de 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