sample of publications

• articles 

  • 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 & 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 & 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
  • Common mechanisms and signaling pathways in fibroblasts of cancer-prone genodermatoses.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S295-S295. 2017
  • 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
  • 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. 2017
  • 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 

  • 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
  • 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