Xenética de Enfermidades Humanas
Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (93)
2024
-
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries
Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886
-
Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases
Journal of Clinical Medicine, Vol. 13, Núm. 11
-
The activity of therapeutic molecular cluster Ag5 is dependent on oxygen level and HIF-1 mediated signalling
Redox Biology, Vol. 76
2023
-
Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Frontiers in Endocrinology, Vol. 14
-
Targets, Mechanisms and Cytotoxicity of Half-Sandwich Ir(III) Complexes Are Modulated by Structural Modifications on the Benzazole Ancillary Ligand
Cancers, Vol. 15, Núm. 1
2022
-
Silver Clusters of Five Atoms as Highly Selective Antitumoral Agents Through Irreversible Oxidation of Thiols
Advanced Functional Materials, Vol. 32, Núm. 29
2021
-
A Simple Entropic-Driving Separation Procedure of Low-Size Silver Clusters, Through Interaction with DNA
ChemistryOpen, Vol. 10, Núm. 8, pp. 760-763
-
O-GlcNAcylated p53 in the liver modulates hepatic glucose production
Nature Communications, Vol. 12, Núm. 1
-
Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant
Journal of Clinical Medicine, Vol. 10, Núm. 7
2019
-
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy
Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136
-
New half-sandwich ruthenium(ii) complexes as proteosynthesis inhibitors in cancer cells
Chemical Communications, Vol. 55, Núm. 8, pp. 1140-1143
-
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Case Reports in Endocrinology, Vol. 2019
2018
-
Adult Sox2+ stem cell exhaustion in mice results in cellular senescence and premature aging
Aging Cell, Vol. 17, Núm. 5
-
Silver Atomic Quantum Clusters of Three Atoms for Cancer Therapy: Targeting Chromatin Compaction to Increase the Therapeutic Index of Chemotherapy
Advanced Materials, Vol. 30, Núm. 33
-
Strong Influence of Ancillary Ligands Containing Benzothiazole or Benzimidazole Rings on Cytotoxicity and Photoactivation of Ru(II) Arene Complexes
Inorganic Chemistry, Vol. 57, Núm. 22, pp. 14322-14336
-
Thiabendazole-based Rh(III) and Ir(III) biscyclometallated complexes with mitochondria-targeted anticancer activity and metal-sensitive photodynamic activity
European Journal of Medicinal Chemistry, Vol. 157, pp. 279-293
2017
-
Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene
Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199
-
Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome
Ophthalmic Genetics, Vol. 38, Núm. 3, pp. 277-280
2015
-
Ag2 and Ag3 Clusters: Synthesis, Characterization, and Interaction with DNA
Angewandte Chemie - International Edition, Vol. 54, Núm. 26, pp. 7612-7616
-
Interaction of silver atomic quantum clusters with living organisms: bactericidal effect of Ag3 clusters mediated by disruption of topoisomerase-DNA complexes
Chemical Science, Vol. 6, Núm. 12, pp. 6717-6724