A5083794973- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Dermatological and Skeletal Disorders
- Electrospun Nanofibers in Biomedical Applications
- Wound Healing and Treatments
- Skin Protection and Aging
- Mesenchymal stem cell research
- Pluripotent Stem Cells Research
- Genomics and Phylogenetic Studies
- RNA regulation and disease
- Tissue Engineering and Regenerative Medicine
- Connective tissue disorders research
- Plant Reproductive Biology
- RNA Interference and Gene Delivery
- Immunotherapy and Immune Responses
- Wnt/β-catenin signaling in development and cancer
- melanin and skin pigmentation
- Silk-based biomaterials and applications
- Diabetic Foot Ulcer Assessment and Management
- Hair Growth and Disorders
- Legume Nitrogen Fixing Symbiosis
- Corneal Surgery and Treatments
- Environmental and Cultural Studies in Latin America and Beyond
- Mass Spectrometry Techniques and Applications
- Cutaneous lymphoproliferative disorders research
Hospital Universitario Fundación Jiménez Díaz
2015-2024
Centre for Biomedical Network Research on Rare Diseases
2013-2024
Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas
2013-2024
Universidad Carlos III de Madrid
2013-2024
Instituto de Salud Carlos III
2007-2024
Universidad Autónoma de Madrid
2024
Unidades Centrales Científico-Técnicas
2021-2022
Instituto de Investigación de Enfermedades Raras
2022
Bioengineering Center
2021
Universidad Complutense de Madrid
2011-2020
Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three cancer‐prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights role stromal microenvironment in pathology these disorders. To investigate, by means comparative gene expression analysis, played dermal fibroblasts pathogenesis RDEB, KS XPC. We...
Using a recently described skin-humanized model based on the engraftment of human bioengineered skin equivalents onto immunodeficient mice, we compared efficacy different in vivo gene transfer strategies aimed at delivering growth factors to promote wound healing. The approaches involving transient delivery keratinocyte factor (KGF) wounds performed engrafted included (1) KGF by intradermal adenoviral injection; (2) vector immobilized fibrin carrier; and (3) KGF-adenoviral gene-transferred...
Germline mutations in CDKN2A and/or red hair color variants MC1R genes are associated with an increased susceptibility to develop cutaneous melanoma or non skin cancer. We studied the impact of germinal mutation p.G101W and on gene expression transcription profiles To this end we set-up primary cell co-cultures from siblings prone-families that were later analyzed using array approach. As a result, found 1535 transcripts deregulated mutated cells, over-expression immunity-related (HLA-DPB1,...
Abstract Cutaneous diabetic wounds greatly affect the quality of life patients, causing a substantial economic impact on healthcare system. The limited clinical success conventional treatments is mainly attributed to lack knowledge pathogenic mechanisms related chronic ulceration. Therefore, management ulcers remains challenging issue. Within this context, reliable animal models that recapitulate situations impaired wound healing have become essential. In study, we established new in vivo...
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is an autosomal recessive disorder caused by pathogenic variants in PLEC1, which encodes plectin. It characterized mild mucocutaneous fragility and blistering muscle weakness. Translational readthrough-inducing drugs, such as repurposed aminoglycoside antibiotics, may represent a valuable therapeutic alternative for untreatable rare diseases nonsense variants.To evaluate whether systemic gentamicin, at dose of 7.5 mg/kg/d 14...
Background Basal epidermolysis bullosa simplex (EBS) is a group of blistering genodermatoses mostly caused by mutations in the keratin genes, KRT5 and KRT14. Recessive represent about 5% all EBS mutations, being common specific populations with high consanguinity, where affected patients show severe phenotypes. Objectives To accomplish first mutational analysis Spanish origin to delineate comprehensive genotype–phenotype correlation. Methods Twenty-one families were analysed....
The yields of soluble recombinant proteins expressed in bacteria are often low due to the tendency heterologous form aggregates. Therefore, aggregation reporters have been envisaged simplify comparison among different expression conditions and speed up identification suitable protocols that improve solubility. probe we used is composed by an IbpAB promoter specifically activated protein aggregates fused a sequence coding beta-galactosidase, activity which becomes, therefore, indicative...
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable inherited mucocutaneous fragility disorder characterized by recurrent blisters, erosions, and wounds. Continuous blistering triggers overlapping cycles of never-ending healing scarring commonly evolving to chronic systemic inflammation fibrosis. The treatment with allogeneic mesenchymal cells (MSC) from bone marrow has previously shown benefits in RDEB. MSC adipose tissue (ADMSC) are easier isolate. This the first report on...
Defective healing leading to cutaneous ulcer formation is one of the most feared complications diabetes due its consequences on patients’ quality life and healthcare system. A more in-depth analysis underlying molecular pathophysiology required develop effective healing-promoting therapies for those patients. Major architectural functional differences with human epidermis limit extrapolation results coming from rodents other small mammal-healing models. Therefore, search reliable humanized...
Patients with recessive dystrophic epidermolysis bullosa (RDEB) experience numerous complications, which are exacerbated by inflammatory dysregulation and infection. Understanding the immunological mechanisms is crucial for selecting medications that balance inflammation control immunocompetence. In this cross-sectional study, aiming to identify potential immunotherapeutic targets biomarkers, we delved into interrelationship between clinical severity systemic parameters in a representative...
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin disease caused by mutation of the COL7A1 gene. RDEB associated with high levels TGF-β1, which likely to be involved in fibrosis that develops this disease. Endoglin (CD105) type III coreceptor for TGF-β1 and its overexpression fibroblasts deregulates physiological Smad/Alk1/Alk5 signalling, repressing synthesis extracellular matrix (ECM) proteins. Raloxifene specific estrogen receptor modulator designated as an orphan drug...