sample of publications

• articles 

  • 520 Systemic administration of PRELP reduces fibrotic traits in a genetic model of progressive fibrosis..  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  144:S318. 2024
  • Unravelling the cellular response to the SARS-COV-2 vaccine in inflammatory bowel disease patients on biologic drugs.  Scientific Reports.  13:1-11. 2023
  • Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.  BRITISH JOURNAL OF DERMATOLOGY.  189:774-776. 2023
  • Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors.  Molecular Therapy - Methods and Clinical Development.  27:96-108. 2022
  • FPR2 DNA Aptamers for Targeted Therapy of Wound Repair.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:2238-2248. 2022
  • Natural occurrence of autoantibodies against basement membrane proteins in epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:2014-2019. 2022
  • Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-beta antagonist and inhibitor of fibrosis.  MATRIX BIOLOGY.  111:189-206. 2022
  • CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.  CLINICAL GENETICS.  101:481-493. 2022
  • Evaluation of systemic gentamicin as translational readthrough therapy for a patient with epidermolysis bullosa simplex with muscular dystrophy owing to PLEC1 pathogenic nonsense variants.  JAMA Dermatology.  158:439-443. 2022
  • DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients.  Frontiers in Medicine.  8:1-8. 2021
  • Immunotherapeutic effect of adenovirus encoding antimicrobial peptides in experimental pulmonary tuberculosis.  JOURNAL OF LEUKOCYTE BIOLOGY.  110:951-963. 2021
  • Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.  MOLECULAR THERAPY.  29:2008-2018. 2021
  • Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response.  Genes.  12 (1):1-13. 2020
  • Combined adipose mesenchymal stromal cell advanced therapy resolved a recalcitrant leg ulcer in an 85-year-old patient.  Regenerative Medicine.  15:2053-2065. 2020
  • Beneficial effect of systemic allogeneic adipose derived mesenchymal cells on the clinical, inflammatory and immunologic status of a patient with recessive dystrophic epidermolysis bullosa: A case report.  Frontiers in Medicine.  7:1-12. 2020
  • The importance of immunity in the development of reliable animal models for psoriasis and atopic dermatitis.  IMMUNOLOGY AND CELL BIOLOGY.  98:626-638. 2020
  • Raloxifene and n-Acetylcysteine ameliorate TGF-signalling in fibroblasts from patients with recessive dominant epidermolysis bullosa.  Cells.  9:1-18. 2020
  • Efficient CRISPR-Cas9-mediated gene ablation in human keratinocytes to recapitulate genodermatoses: modeling of Netherton syndrome.  Molecular Therapy - Methods and Clinical Development.  18:280-290. 2020
  • Humanization of tumor stroma by tissue engineering as a tool to improve squamous cell carcinoma xenograft.  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES.  21:1-10. 2020
  • Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.  Clinical & Translational Oncology.  21:1573-1577. 2019
  • Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.  BRITISH JOURNAL OF DERMATOLOGY.  181:512-522. 2019
  • Oxidative stress imbalance as contributing factor in the establishment of fibrosis in recessive dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  139:S631-S631. 2019
  • Phase I/II efficacy and safety study of mesenchymal stromal cells in recessive dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  139:S236-S236. 2019
  • Early, Non-Invasive Sensing of Sustained Hyperglycemia in Mice Using Millimeter-Wave Spectroscopy.  SENSORS.  19:1-12. 2019
  • Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.  Orphanet Journal of Rare Diseases.  14:1-15. 2019
  • Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.  JCI Insight.  4:1-20. 2019
  • Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.  MOLECULAR THERAPY.  27:986-998. 2019
  • CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.  MOLECULAR THERAPY.  26:2592-2603. 2018
  • Terapias avanzadas en enfermedades raras = Advanced therapies for rare diseases.  Arbor.  194:1-15. 2018
  • Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.  Molecular Therapy Nucleic Acids.  11:68-78. 2018
  • Diagnóstico genético de la epidermólisis bullosa: recomendaciones de un grupo español de expertos = Genetic Diagnosis of Epidermolysis Bullosa: Recommendations From an Expert Spanish Research Group.  Actas Dermo-Sifiliograficas.  109:104-122. 2018
  • 116 Comparative transcriptomic analysis of fibroblasts from two sisters with discordant severe generalized recessive dystrophic epidermolysis bullosa phenotype reveals new molecular markers associated with disease severity.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S212-S212. 2017
  • 601 Common mechanisms and signaling pathways in fibroblasts of cancer-prone genodermatoses.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S295-S295. 2017
  • Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.  Oncotarget.  8:77385-77399. 2017
  • Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.  Oncotarget.  8:11589-11599. 2017
  • IKK alpha regulates the stratification and differentiation of the epidermis: implications for skin cancer development.  Oncotarget.  7:76779-76792. 2016
  • Gene therapy based in antimicrobial peptides and proinflammatory cytokine prevents reactivation of experimental latent tuberculosis.  Pathogens and Disease.  74. 2016
  • Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.  EXPERIMENTAL DERMATOLOGY.  25:736-738. 2016
  • Induction of scleroderma fibrosis in skin-humanized mice by anti-Platelet-Derived Growth Factor receptor agonistic autoantibodies.  Arthritis & Rheumatology.  68:2263-2273. 2016
  • Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.  EXPERIMENTAL DERMATOLOGY.  25:269-274. 2016
  • Differential Features between Chronic Skin Inflammatory Diseases Revealed in Skin-Humanized Psoriasis and Atopic Dermatitis Mouse Models.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  136:136-145. 2016
  • Gene editing for the efficient correction of a recurrent COL7A1 mutation in recessive dystrophic epidermolysis bullosa keratinocytes.  Molecular Therapy Nucleic Acids.  5 :1-13. 2016
  • Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  135:3133-3143. 2015
  • Feeder Layer Cell Actions and Applications.  Tissue Engineering Part B-Reviews.  21:345-353. 2015
  • Innovative therapeutic strategies for recessive dystrophic epidermolysis bullosInnovative therapeutic strategies for recessive dystrophic epidermolysis bullosa.  Actas Dermo-Sifiliograficas.  106:376-382. 2015
  • Tumor initiation by skin Ha-ras-ment.  EXPERIMENTAL DERMATOLOGY.  24:252-253. 2015
  • Oxidative stress and mitochondrial dysfunction in Kindler syndrome.  Orphanet Journal of Rare Diseases.  9:211:1-10. 2014
  • Long-term skin regeneration from a gene-targeted human epidermal stem cell clone.  MOLECULAR THERAPY.  22:1878-1880. 2014
  • Remote diffuse reflectance spectroscopy sensor for tissue engineering monitoring based on blind signal separation.  Biomedical Optics Express.  5:3231-3237. 2014
  • Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.  BRITISH JOURNAL OF DERMATOLOGY.  170:901-906. 2014
  • Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer.  Oncotarget.  5:1439-1451. 2014
  • Targeted silencing of DEFB4 in a bioengineered skin-humanized mouse model for psoriasis: development of siRNA SECosome-based novel therapies.  EXPERIMENTAL DERMATOLOGY.  23:199-201. 2014
  • Tissue-engineered oral mucosa for mucosal reconstruction in a pediatric patient with hemifacial microsomia and ankyloglossia.  Cleft Palate Craniofacial Journal.  51:146-251. 2014
  • Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  134:571-574. 2014
  • Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen.  EXPERIMENTAL DERMATOLOGY.  23:130-132. 2014
  • Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  134:2097-2104. 2014
  • Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care = Prevalencia de la epidermólisis ampollosa distrófica en España: estudio poblacional usando el método de captura-recaptura con 3 fuentes de datos. Evidencia de la necesidad de mejora en la atención sociosanitaria.  Actas Dermo-Sifiliograficas.  104:890-896. 2013
  • Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.  PEDIATRIC DERMATOLOGY.  30:125-131. 2013
  • Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts.  AMERICAN JOURNAL OF HUMAN GENETICS.  93:620-630. 2013
  • Keratinocyte cell lines derived from severe generalized recessive Epidermolysis Bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.  EXPERIMENTAL DERMATOLOGY.  22:601-603. 2013
  • Targeted gene addition in human epithelial stem cells by zinc-finger nuclease-mediated homologous recombination.  MOLECULAR THERAPY.  21:1695-1704. 2013
  • Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.  BRITISH JOURNAL OF DERMATOLOGY.  168:808-814. 2013
  • The regenerative potential of fibroblasts in a new diabetes-induced delayed humanised wound healing model.  EXPERIMENTAL DERMATOLOGY.  22:195-201. 2013
  • Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.  BRITISH JOURNAL OF DERMATOLOGY.  168:226-229. 2013
  • A humanized mouse model of HPV-associated pathology driven by E7 expression.  PLoS One.  7:1-19. 2012
  • Long-Term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  132:1918-1921. 2012
  • Preclinical corrective gene transfer in Xeroderma pigmentosum human skin stem cells.  MOLECULAR THERAPY.  20:798-807. 2012
  • Bioingeniería cutánea: aplicaciones preclínicas y clínicas = Skin bioengineering: preclinical and clinical applications.  Actas Dermo-Sifiliograficas.  103:5-11. 2012
  • Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expression.  HUMAN GENE THERAPY.  23:83-90. 2012
  • Skin bioengineering: preclinical and clinical application = Bioingeniería cutánea: aplicaciones preclínicas y clínicas.  Actas Dermo-Sifiliograficas.  103:5-11. 2012
  • A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa.  DERMATOLOGY.  223:219-221. 2011
  • Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.  HUMAN MUTATION.  32:1204-1212. 2011
  • Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.  BRITISH JOURNAL OF DERMATOLOGY.  165:683-692. 2011
  • Applicability of bioengineered human skin: from preclinical skin humanized mouse models to clinical regenerative therapies.  Bioengineered bugs.  2:203-207. 2011
  • Development of skin-humanized mouse models of Pachyonychia congenita.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  131:1053-1060. 2011
  • Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts.  MOLECULAR THERAPY.  19:408-416. 2011
  • Development of a bioengineered skin-humanized mouse model for psoriasis: dissecting epidermal-lymphocyte interacting pathways.  AMERICAN JOURNAL OF PATHOLOGY.  177:3112-3124. 2010
  • Revertant mosaicism due to second-site mutation in COL7A1 in patient with recessive dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  130:2407-2411. 2010
  • A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families.  BMC Medical Genetics.  11:139-7. 2010
  • In vivo assessment of acute UVB responses in normal and xeroderma pigmentosum (XP-C) skin-humanized mouse models.  AMERICAN JOURNAL OF PATHOLOGY.  177:865-872. 2010
  • X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.  DERMATOLOGY.  221:113-116. 2010
  • The first COL7A1 mutation survey in a large Spanish Dystrophic Epidermolysis Bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.  BRITISH JOURNAL OF DERMATOLOGY.  163:155-161. 2010
  • Human embryonic stem-cell derivatives for full reconstruction of the pluristratified epidermis: a preclinical study.  LANCET.  374:1745-1753. 2009
  • Novedades Sobre la Epidermolisis Bullosa en España: ensayos clínicos para el tratamiento de la Epidermolisis Bullosa.  Estar bien.  36:9-12. 2009
  • Correction of laminin-5 deficiency in human epidermal stem cells by transcriptionally targeted lentiviral vectors.  MOLECULAR THERAPY.  16:1977-1985. 2008
  • Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  128:1565-1575. 2008
  • In vitro and in vivo wound healing-promoting activities of human cathelicidin LL-37.  BRITISH JOURNAL OF DERMATOLOGY.  128:223-236. 2008

• book chapters 

  • Organotypic and humanized animal models of genodermatoses. In: Skin tissue models.  Academic Press. 77-102. 2018
  • Current applications for bioengineered skin. In: Translating regenerative medicine to the clinic. Advances in translational medicine.  Academic Press. 107-120. 2016
  • Bioengineered skin humanized model of psoriasis. In: Molecular Dermatology: methods and protocols.  SPRINGER SCIENCE BUSINESS MEDIA B.V.. 305-323. 2013
  • Stem cells in skin tisular engineering. In: Hot topics in cell biology.  chartridge Books Oxford. 166-180. 2012
  • Bioengineered Skin. In: Skin Biopsy: Perspectives.  INTECH. 261-296. 2011

• conference contributions 

  • Multi-organ characterization of inflammation and fibrosis in a hypomorphic RDEB mouse model 2024
  • Identification of a new molecular modulator of severity in recessive dystrophic epidermolysis bullosa.  S211. 2021
  • Systemic metabolomics in recessive dystrophic epidermolysis bullosa paediatric patients to determine therapeutic mechanisms of mesenchymal stem cells.  13-13. 2021
  • CRISPR/Cas9-based gene editing strategies for clinically-relevant ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa.  59-59. 2020
  • Novel players in the establishment and progression of fibrosis in recessive dystrophic epidermolysis bullosa.  71-71. 2020
  • Preliminary safety and efficacy outcomes of a phase I trial of systemic mesenchymal stromal cells for recessive dystrophic epidermolysis bullosa.  57-57. 2020
  • 319 First-in-human treatment of recessive dystrophic epidermolysis bullosa with adipose derived mesenchymal stromal cells. A case report.  S269-S269. 2019
  • Clinically-relevant correction of recessive dystrophic epidermolysis bullosa by dual sgRNA CRISPR/Cas9-mediated gene editing.  A116-A117. 2018
  • Disease Severity Modulators in Recessive Dystrophic Epidermolysis Bullosa.  31-32. 2018
  • Enfermedades raras de piel: diagnóstico y tratamientos de terapias avanzadas 2016
  • Terapia génica en España 2016
  • Terapias avanzadas en dermatología: terapia celular, génica e ingenería de tejidos 2016
  • Nuevas herramientas terapéuticas para enfermedades cutáneas 2015
  • Targeted Gene Therapy Approaches for RDEB Due to a Highly Recurrent COL7A1 "Spanish" Mutation 2015
  • Terapia Celular y Génica para la EB 2015
  • The clinical application of stem cells in dermatology, now and in the future 2015
  • Update on Madrid team´s work on Xeroderma Pigmentosum 2015
  • Assessment of the performance and fate of adipose-derived mesenchymal stem cells forming part of bioengineered skin equivalents in vitro and in vivo.  99. 2014
  • Estrés oxidativo en el Sindrome de Kindler 2014
  • Identificación de nuevos mecanismos fisiopatológicos en el síndrome de Kindler 2014
  • Investigación en EB en España 2014
  • Actualización en diagnóstico y tratamiento de las epidermolisis ampollosas 2013
  • Artificial Skin 2013
  • Cell-based therapy for diabetic wounds: from the bench to the patient 2013
  • Combining skin tissue engineering and gene therapy to treat genedermatosis 2013
  • Development of bioengineered skin-humanized mouse models for inflammatory skin diseases.  129-129. 2013
  • El álgebra y la geometría como apoyo al diagnóstico médico 2013
  • Fate and function of adipose-derived mesenchymal stem cells (ADMSC) in bioengineered skin equivalents in vitro and in vivo.  129-129. 2013
  • La identificación de las mutaciones causantes de epidermolisis bullosa juntural con atresia de píloro en el neonato permite pronosticar la evolución de la enfermedad 2013
  • Long-term COLVII expression after histocompatible bioengineered skin transplantation in a COL VII-null RDEB patient 2013
  • Protein, cell and gene therapies for rare skin 2013
  • Role of mitochondria in the pathogenesis of kindler syndrome.  130-130. 2013
  • Terapias avanzadas para enfermedades hereditarias de la piel 2013
  • Terapias celulares en el tratamiento de las genodermatosis 2013
  • ¿Puede la biotecnología curar enfermedades raras? 2013
  • Capturing the biological impact of the status of CDKN2A and MC1R genes in cocultures human keratinocytes and melanocytes: identification of deregulated pathways 2012
  • Epithelial cells and their use for tissue engineering 2012
  • Establishment and characterization of keratinocyte cell lines derived from RDEB patients to assess cell and gene therapies in vitro and in vivo.  98-98. 2012
  • In-silico protein-protein interaction networks in cocultures melanocytes and keratinocytes evidences of autophagy genes invoved in melanogenesis 2012
  • Molecular and Genetic Analysis of Regeneration and Tissue Repair 2012
  • Potential role of oxidative stress from mitochondria in Kindler Syndrome.  82-82. 2012
  • Protein-protein interaction networks in cocultured melanocytes and keratinocytes regarding the genomic status of CDKN2A and MC1R genes.  130-130. 2012
  • The presence of red hair MC1R variants enhance melanoma sun-induced susceptibility in a CDKN2A skin-humanized mice model of cutaneous familiar melanoma.  130-130. 2012
  • Topical enzyme replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase 1 deficient skin grafts.  89-89. 2012
  • Transcriptome profiling in a delayed wound healing skin-humnized mouse model revealed genes implicated in extracellular matrix remodeling and collagen deposition.  11-11. 2012
  • Age estimate of the c.6527insC mutation causing recessive epidermolisis bullosa dystrophic in Spanish population.  65-65. 2011
  • Distrofia muscular congénita asociada a epidermolisis bullosa 2011
  • Epidermolisis bullosa simplex in spanish patients: First survey of novel and recurrent mutations 2011
  • Epidermolysis bullosa simplex in Spanish patients: first survey of novel and recurrent mutations.  64-64. 2011
  • Estrés oxidativo en el fenotipo del síndrome de Kindler.  13-13. 2011
  • Generación de piel a partir de células madre epidérmicas: estudios preclínicos y extrapolaciones clínicas 2011
  • Human fibroblasts in skin regeneration: A preclinical study in diabetic wound healing.  2-2. 2011
  • In vitro disadvantage of type XVII collagen revertant keratinocytes when cultured for revertant cell therapy.  69-69. 2011
  • In vivo assessment of low-and high-dose of UVB irradiation on xeroderma pigmentosum (XP-C) and differentially pigmented human bioengineered skin.  65-65. 2011
  • In vivo efficacy of human mesenchymal stem cell transplantation in bioingeneered skin-humanized mouse model for psoriasis.  9-9. 2011
  • In vivo efficacy of human mesenchymal stem cell transplantation in bioingeneered skin-humanized mouse model for psoriasis 2011
  • Regeneración cutánea 2011
  • Revertant mosaicism in patients with different subtypes of dystrophic epidermolysis bullosa.  63-63. 2011
  • Revertant mosaicism in three Spanish patients with recessive dystrophic epidermolysis bullosa en WCD 2011
  • Severe kindler syndrome associated with two compound heterozygous novel FERMT1 mutations.  69-69. 2011
  • Skin Bioengineering: Techniques and Applications in Dermatology 2011
  • Somatic Cells in Engineering Human Skin 2011
  • Transcriptome variation in human keratinocytes and melanocytes regarding the genomic status of CDKN2A and MC1R genes.  113-113. 2011