A5011581912- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Dermatological and Skeletal Disorders
- Cell Adhesion Molecules Research
- Immunotherapy and Immune Responses
- Wound Healing and Treatments
- Wnt/β-catenin signaling in development and cancer
- Psoriasis: Treatment and Pathogenesis
- RNA Interference and Gene Delivery
- Plant Reproductive Biology
- RNA regulation and disease
- Dermatology and Skin Diseases
- Histone Deacetylase Inhibitors Research
- Antimicrobial Peptides and Activities
- Cytokine Signaling Pathways and Interactions
- Silk-based biomaterials and applications
- Diabetic Foot Ulcer Assessment and Management
- Bacterial biofilms and quorum sensing
- Pluripotent Stem Cells Research
- Skin Protection and Aging
- Celiac Disease Research and Management
- Biocrusts and Microbial Ecology
- Advancements in Transdermal Drug Delivery
- Cellular Mechanics and Interactions
- Asthma and respiratory diseases
Centre for Biomedical Network Research on Rare Diseases
2012-2024
Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas
2012-2024
Instituto de Salud Carlos III
2013-2024
Hospital Universitario Fundación Jiménez Díaz
2015-2024
Universidad Carlos III de Madrid
2022-2024
Universidad Autónoma de Madrid
2024
Unidades Centrales Científico-Técnicas
2022
Centro de Investigación Biomédica en Red
2011-2018
Center of Regenerative Medicine in Barcelona
2012
Universidad Complutense de Madrid
2010-2011
Background Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. The clinical manifestations are highly variable from nail dystrophy to life-threatening blistering, making early molecular diagnosis and prognosis of utmost importance for the affected families. Mutation identification mandatory prenatal testing. Objectives To conduct first mutational analysis COL7A1 Spanish cohort, assess mutation consequences at protein/mRNA level establish...
Recessive dystrophic epidermolysis bullosa is a severe skin fragility disease caused by loss of functional type VII collagen at the dermal-epidermal junction. A frameshift mutation in exon 80 COL7A1 gene, c.6527insC, highly prevalent Spanish patient population. We have implemented gene-editing strategies for frame restoration NHEJ-induced indels epidermal stem cells from patients carrying this mutation. TALEN nucleases designed to cut within sequence were delivered primary keratinocyte...
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....
Abstract Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized blistering of skin following minimal friction or mechanical trauma. The identification cluster RDEB pedigrees carrying c.6527insC mutation specific area raises question origin this from common ancestor as result hotspot mutation. aim study was to investigate Methods Haplotypes were constructed genotyping nine single...
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...
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 blistering genodermatosis due to biallelic loss-of-function variants in the type VII collagen (C7) gene (COL7A1). We report impact of inflammation/autoimmunity on gut (and other organs) nine children with RDEB recruited an early-phase clinical trial systemic cell therapy (NCT04153630). This pilot study provides evidence that autoimmunity may play important role sustaining chronic inflammation and coexistence coeliac disease, which, turn,...