sample of publications

• articles 

  • 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
  • Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.  MOLECULAR THERAPY.  30:2680-2692. 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
  • 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
  • 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
  • Raloxifene and n-Acetylcysteine ameliorate TGF-signalling in fibroblasts from patients with recessive dominant epidermolysis bullosa.  Cells.  9:1-18. 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
  • Phase I/II efficacy and safety study of mesenchymal stromal cells in recessive dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  139:S236-S236. 2019
  • Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.  MOLECULAR THERAPY.  27:986-998. 2019
  • 3D human skin bioprinting: a view from the bio side.  Journal of 3D printing in medicine.  2:115-127. 2018
  • Bioimpresión 3D de piel. Aplicaciones en el campo de la cosmética.  NCP: Noticias de Cosmética y Perfumería.  año XLVI:4-12. 2018
  • Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.  Oncotarget.  8:77385-77399. 2017
  • 3D bioprinting of functional human skin: production and in vivo analysis.  Biofabrication.  9:1-2. 2016
  • Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.  EXPERIMENTAL DERMATOLOGY.  25:736-738. 2016
  • Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.  EXPERIMENTAL DERMATOLOGY.  25:269-274. 2016
  • Oxidative stress and mitochondrial dysfunction in Kindler syndrome.  Orphanet Journal of Rare Diseases.  9:211:1-10. 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
  • Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  134:2097-2104. 2014
  • 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
  • Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population.  BRITISH JOURNAL OF DERMATOLOGY.  168:226-229. 2013
  • Preclinical corrective gene transfer in Xeroderma pigmentosum human skin stem cells.  MOLECULAR THERAPY.  20:798-807. 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
  • Development of skin-humanized mouse models of Pachyonychia congenita.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  131:1053-1060. 2011
  • 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
  • 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 

  • Bioprinting for Skin. In: 3D Bioprinting.  SPRINGER. 217-228. 2020
  • Bioprinting for skin. In: 3D Bioprinting: Principles and Protocols.  217-228. 2020
  • 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
  • Disease Severity Modulators in Recessive Dystrophic Epidermolysis Bullosa.  31-32. 2018
  • Development of a hyaluronic acid/plasma-derived fibrin hydrogel for the optimization of dermo-epidermal autologous equivalents 2016
  • Development of a hyaluronic acid/plasma-derived hydrogels for the optimization of dermo-epidermal autologus equivalents..  64-64. 2016
  • Mechanical modulation of human plasma-based skin scaffold via reactive multi-arm polyethylene glycols.  65-65. 2016
  • 3D Bioprinting of Functional Fibrin-Based Skin Equivalents 2015
  • Identificación de nuevos mecanismos fisiopatológicos en el síndrome de Kindler 2014
  • Tecnologías de impresión 3d en la medicina regenerativa 2014
  • 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
  • Role of mitochondria in the pathogenesis of kindler syndrome.  130-130. 2013
  • Potential role of oxidative stress from mitochondria in Kindler Syndrome.  82-82. 2012
  • Age estimate of the c.6527insC mutation causing recessive epidermolisis bullosa dystrophic in Spanish population.  65-65. 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
  • 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
  • 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