Centro de Investigación de Medicina Aplicada (CIMA)
Centro / Instituto vinculado a la Universidad de Navarra
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (27)
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
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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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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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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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
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scoreInvHap: Inversion genotyping for genome-wide association studies
PLoS Genetics, Vol. 15, Núm. 7
2017
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A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration
Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1863, Núm. 3, pp. 801-809
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A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis
Gastric Cancer, Vol. 20, Núm. 6, pp. 998-1003
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The PipX Protein, When Not Bound to Its Targets, Has Its Signaling C-Terminal Helix in a Flexed Conformation
Biochemistry, Vol. 56, Núm. 25, pp. 3211-3224