A5046646499- RNA Research and Splicing
- Nuclear Structure and Function
- Skin and Cellular Biology Research
- Marine Ecology and Invasive Species
- Wnt/β-catenin signaling in development and cancer
- Genomics and Phylogenetic Studies
- Galectins and Cancer Biology
- Polysaccharides and Plant Cell Walls
- Aquaculture disease management and microbiota
- RNA Interference and Gene Delivery
- Esophageal Cancer Research and Treatment
- Biofield Effects and Biophysics
- MicroRNA in disease regulation
- Genetics, Aging, and Longevity in Model Organisms
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- melanin and skin pigmentation
- Pluripotent Stem Cells Research
- Biocrusts and Microbial Ecology
- Kruppel-like factors research
- Cancer Cells and Metastasis
- Signaling Pathways in Disease
- Tardigrade Biology and Ecology
- Turtle Biology and Conservation
- Protease and Inhibitor Mechanisms
Universidad del Rosario
2025
Universidad de Oviedo
2016-2024
King's College London
2018-2019
Guy's Hospital
2018
Centro de Investigación Biomédica en Red de Cáncer
2018
Giant tortoises are among the longest-lived vertebrate animals and, as such, provide an excellent model to study traits like longevity and age-related diseases. However, genomic molecular evolutionary information on giant is scarce. Here, we describe a global analysis of genomes Lonesome George-the iconic last member Chelonoidis abingdonii-and Aldabra tortoise (Aldabrachelys gigantea). Comparison these with those related species, using both unsupervised supervised analyses, led us detect...
Turritopsis dohrnii is the only metazoan able to rejuvenate repeatedly after its medusae reproduce, hinting at biological immortality and challenging our understanding of aging. We present compare whole-genome assemblies T. nonimmortal rubra using automatic manual annotations, together with transcriptome life cycle reversal (LCR) process dohrnii. have identified variants expansions genes associated replication, DNA repair, telomere maintenance, redox environment, stem cell population,...
Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We aimed to understand its molecular cause.We performed exome sequencing in two families, targeted 10 other families silico modelling studies transcript processing analyses explore the structural functional consequences identified variants.Biallelic...
Abstract Matrix metalloproteases (MMPs) regulate innate immunity acting over proinflammatory cytokines, chemokines, and other immune-related proteins. MMP-25 (membrane-type 6-MMP) is a membrane-bound enzyme predominantly expressed in leukocytes whose biological function has remained largely unknown. We have generated Mmp25-deficient mice to elucidate the vivo of this protease. These mutant are viable fertile do not show any spontaneous phenotype. However, Mmp25-null exhibit defective immune...
Abstract Keratin 76 (Krt76) is expressed in the differentiated epithelial layers of skin, oral cavity and squamous stomach. Krt76 downregulation human cell carcinomas (OSCC) correlates with poor prognosis. We show that genetic ablation mice leads to spleen lymph node enlargement, an increase regulatory T cells (Tregs) high levels pro-inflammatory cytokines. −/− Tregs have increased suppressive ability correlated CD39 CD73 expression, while their effector are less proliferative than controls....
Tardigrades, also known as water bears, are small aquatic animals that inhabit marine, fresh or limno-terrestrial environments. While all tardigrades require surrounding to grow and reproduce, species living in environments (e.g. Ramazzottius varieornatus) able undergo almost complete dehydration by entering an arrested state anhydrobiosis, which allows them tolerate ionic radiation, extreme temperatures intense pressure. Previous studies based on comparison of the genomes R. varieornatus...
<h3>Background</h3> Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), generally caused by mutations in <i>LMNA</i> leading to accumulation the toxic protein progerin and consequently, nuclear envelope alterations. In this work, we describe a novel phenotypic feature spectrum affecting three unrelated newborns identify its cause. <h3>Methods results</h3> Patients...
Abstract The demersal fish orange roughy ( Hoplostethus atlanticus ) can live for up to 250 years, twenty times more than its congener silver mediterraneus ). Studies of have focused mainly on ecology and conservation due vulnerability commercial fishing. In this work, we present the de novo genomes roughies explore genomic mechanisms that could contribute such differential longevities. Using comparative genomics a list 400 genes, identified gene candidates with residue changes in are...
ABSTRACT Keratin 76 (Krt76) is expressed in the differentiated epithelial layers of skin, oral cavity and squamous stomach. Krt76 downregulation human cell carcinomas (OSCC) correlates with poor prognosis. We show that genetic ablation mice leads to spleen lymph node enlargement, an increase regulatory T cells (Tregs) high levels pro-inflammatory cytokines. −/− Tregs have increased suppressive ability correlated CD39 CD73 expression, while their effector are less proliferative than controls....