sample of publications

• articles 

  • 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
  • Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.  MOLECULAR THERAPY.  30:2680-2692. 2022
  • FPR2 DNA Aptamers for Targeted Therapy of Wound Repair.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:2238-2248. 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
  • Non-viral delivery of CRISPR-Cas9 complexes for targeted gene editing via a polymer delivery system.  GENE THERAPY.  29:157-170. 2022
  • Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:1227-1230.e4. 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
  • Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.  MOLECULAR THERAPY.  29:2008-2018. 2021
  • 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
  • Advanced statistical techniques for noninvasive hyperglycemic states detection in mice using millimeter-wave spectroscopy.  IEEE Transactions on Terahertz Science and Technology.  10:237-245. 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
  • 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
  • Early, Non-Invasive Sensing of Sustained Hyperglycemia in Mice Using Millimeter-Wave Spectroscopy.  SENSORS.  19:1-12. 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
  • 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
  • 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
  • Classification of skin phenotypes caused by diabetes mellitus using complex scattering parameters in the millimeter-wave frequency range.  Scientific Reports.  7:1-8. 2017
  • Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary Keratinocytes.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:836-844. 2017
  • In-vivo, non-invasive detection of hyperglycemic states in animal models using mm-wave spectroscopy.  Scientific Reports.  6:1-8. 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
  • A non-viral gene
    therapy for treatment of recessive dystrophic epidermolysis bullosa.  EXPERIMENTAL DERMATOLOGY.  25:818-820. 2016
  • The transition from linear to highly branched poly(beta-amino ester)s: Branching matters for gene delivery.  Science Advances.  2:1-14. 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
  • 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
  • New experimental models of skin homeostasis and diseases.  Actas Dermo-Sifiliograficas.  106:17-28. 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
  • Tropism-modified AAV vectors overcome barriers to successful cutaneous therapy.  MOLECULAR THERAPY.  22:929-939. 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
  • First Symposium of Ichthyosis Experts = I Jornada de expertos en ictiosis.  Actas Dermo-Sifiliograficas.  104:877-882. 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
  • The regenerative potential of fibroblasts in a new diabetes-induced delayed humanised wound healing model.  EXPERIMENTAL DERMATOLOGY.  22:195-201. 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
  • Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expression.  HUMAN GENE THERAPY.  23:83-90. 2012
  • Risk assessment in skin gene therapy: viral&-cellular fusion transcripts generated by proviral transcriptional read-through in keratinocytes transduced with self-inactivating lentiviral vectors.  GENE THERAPY.  18:674-681. 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
  • 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
  • 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
  • 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. 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
  • 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
  • Development of a Netherton Syndrome model based on targeted deletion of SPINK5 in human keratinocytes.  S267-s267. 2019
  • Highly efficient gene-editing strategies for clinically-relevant ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa in primary patient cells 2019
  • Preclinical models for in vivo gene editing of COL7A1 based on delivery of CRISPR/Cas9 to RDEB patient skin by adenoviral vectors 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
  • Non-invasive Detection and Monitoring of Sustained Glycemic Fluctuations using Mm-Wave Spectroscopy 2018
  • Determination of hyperglycemic states in mice using millimeter-wave sensing 2017
  • Gene editing-mediated excision of mutation-bearing exon 80 of COL7A1 gene for the efficient correction of recessive dystrophic epidermolysis bullosa patient derived-epidermalstem cells 2017
  • Monitoring the evolution of hyperglycemia in mice using mm-wave spectroscopy 2017
  • Fluorescence Spectroscopic Instrument for the Identification of Hyperglycemia 2016
  • Fluorescence spectroscopic instrument for the identification of hyperglycemia.  OTu2C.6. 2016
  • Novedades en el tratamiento de la Epidermolisis Bullosa distrófica /Advances in DEB treatment 2016
  • Síndrome de Netherton: de los modelos animales, al paciente. Ensayo clínico de terapia génica, para Síndrome de Netherton 2016
  • Bioresorbable nanoparticles for drug delivery and targeting. Preparation and application in wound healing.  29-29. 2015
  • Targeted Gene Therapy Approaches for RDEB Due to a Highly Recurrent COL7A1 "Spanish" Mutation 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
  • Identificación de nuevos mecanismos fisiopatológicos en el síndrome de Kindler 2014
  • Cell-based therapy for diabetic wounds: from the bench to the patient 2013
  • Development of bioengineered skin-humanized mouse models for inflammatory skin diseases.  129-129. 2013
  • Fate and function of adipose-derived mesenchymal stem cells (ADMSC) in bioengineered skin equivalents in vitro and in vivo.  129-129. 2013
  • Long-term COLVII expression after histocompatible bioengineered skin transplantation in a COL VII-null RDEB patient 2013
  • Role of mitochondria in the pathogenesis of kindler syndrome.  130-130. 2013
  • Cutaneous gene therapy approach for the correction of congenital generalized lipodystrophy.  98-98. 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
  • Potential role of oxidative stress from mitochondria in Kindler Syndrome.  82-82. 2012
  • Topical enzyme replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase 1 deficient skin grafts.  89-89. 2012
  • Development of a skin humanized mouse model for transglutaminase 1 deficient lamellar ichthyosis.  71-71. 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