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MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants
(Elsevier, 2021-11)
Untreated familial hypercholesterolemia (FH) leads to atherosclerosis and early cardiovascular disease. Mutations in the low-density lipoprotein receptor (LDLr) gene constitute the major cause of FH, and the high number ...
Enhanced phytoremediation of metal contaminated soils aimed at decreasing the risk of antibiotic resistance dissemination
(Frontiers Media, 2024)
The enhanced phytoremediation of metal contaminated soils holds great
promise for the recovery of soil health and functionality, while providing a
range of co-benefits, from an environmental and human health perspectiv ...
OptiMo-LDLr: an integrated In silico model with enhanced predictive power for LDL receptor variants, unraveling hot spot pathogenic residues
(Wiley, 2024-04)
Familial hypercholesterolemia (FH) is an inherited metabolic disease affecting cholesterol metabolism, with 90% of cases caused by mutations in the LDL receptor gene (LDLR), primarily missense mutations. This study aims ...
Relationship between the dynamics of volatile aroma compounds and microbial succession during the ripening of raw ewe milk-derived Idiazabal cheese
(Elsevier, 2023)
Cheese microbiota contributes to various biochemical processes that lead to the formation of volatile compounds and the development of flavour during ripening. Nonetheless, the role of these microorganisms in volatile aroma ...
Development and integration of In Silico and In Vitro tools for comprehensive prediction and characterization of genetic variants in Familial Hypercholesterolemia and Hyperlipidemias
(2024-01-12)
El objetivo de mi tesis se centra en el desarrollo de técnicas in silico e in vitro para la predicción y caracterización de variantes causantes de hipercolesterolemia familiar e hiperlipemias. El uso de modelos y software ...
Regulation of cell growth, survival and migration by ceramide 1-phosphate - implications in lung cancer progression and inflammation
(Elsevier, 2021-07)
Ceramide 1-phosphate (C1P) is a bioactive sphingolipid that is implicated in the regulation of vital cellular functions and plays key roles in a number of inflammation-associated pathologies. C1P was first described as ...
Sphingomyelin: What is it good for?
(Elsevier, 2022-12)
Sphingomyelin has been considered as a merely structural lipid for many years. However, this organelle-specific lipid has many other roles, including increasing membrane molecular order, acting as a source of ceramide in ...
Systematic review of the potential of MicroRNAs in the management of patients with follicular lymphoma
(Elsevier, 2021-03)
Follicular lymphoma (FL) is the second most common non-Hodgkin lymphoma and usually presents as an indolent disease. However, some patients present poor outcomes, and FL can transform into more aggressive lymphomas, such ...
Tuning the dimensionality of supramolecular functional materials based on the rational design of biomolecules
(2024-01-26)
El diseño racional desecuencias peptídicas y proteínas ha permitido el desarrollo de materiales híbridos coensamblados unidimensionales o bidimensionales. La dimensionalidad adoptada por el material depende directamente ...
Study of human and mouse dermal fibroblast heterogeneity by single-cell RNA sequencing.
(2023-10-18)
The skin is a complex vital organ composed of several layers. The middle layer, the dermis, is mainly composed of fibroblasts that produce the extracellular matrix (ECM) providing structural support. Recent research using ...