sample of publications

• articles 

  • 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
  • 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
  • Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center.  Actas dermo-sifilográficas (English edition).  112:781-793. 2021
  • 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
  • Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional.  Actas dermo-sifilográficas (English edition).  112:781-793. 2021
  • Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response.  Genes (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
  • Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.  BRITISH JOURNAL OF DERMATOLOGY.  182:574 -592. 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
  • First-in-human treatment of recessive dystrophic epidermolysis bullosa with adipose derived mesenchymal stromal cells. A case report.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  139:S269. 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. 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
  • Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.  MOLECULAR THERAPY.  27:1-13. 2019
  • 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
  • Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes..  PEDIATRIC DERMATOLOGY.  35:E94-E98. 2018
  • A study of non-melanoma skin cancer in a series of well-characterized patients with Kindler Syndrome (KS).  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S292-S292. 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
  • Olfactory receptors in skin. Localization, specific expression pattern and their potential role in wound healing.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S221-S221. 2017
  • Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.  Oncotarget (Oncotarget).  8:11589-11599. 2017
  • Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.  Oncotarget (Oncotarget).  8:11589-11599. 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
  • Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer.  Oncotarget (Oncotarget).  5:1439-1451. 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
  • 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-sifilográficas (English edition).  104:890-896. 2013
  • Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.  PEDIATRIC DERMATOLOGY.  30:125-131. 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
  • 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 recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa.  DERMATOLOGY.  223:219-221. 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
  • 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 (BMC Medical Genetics).  11:139-7. 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
  • 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 

  • Bioengineered Skin. In: Skin Biopsy: Perspectives.  INTECH. 261-296. 2011

• conference contributions 

  • CRISPR/Cas9-based gene editing strategies for clinically-relevant ex vivo correction of Recessive Dystrophic Epidermolysis Bullosa.  59-59. 2020
  • Clinical research.  6-6. 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
  • A close look into the stroma of Squamous Cell Carcinomas from patients with Recessive Dystrophic Epidermolysis Bullosa 2017
  • Ensayo con Células Mesenquimales 2016
  • Epidermolisis Bullosa en España/ Epidermolysis Bullosa in Spain 2016
  • 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
  • Cell-based therapy for diabetic wounds: from the bench to the patient 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
  • Capturing the biological impact of the status of CDKN2A and MC1R genes in cocultures human keratinocytes and melanocytes: identification of deregulated pathways 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
  • 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
  • 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
  • Human fibroblasts in skin regeneration: A preclinical study in diabetic wound healing 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
  • 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
  • Transcriptome variation in human keratinocytes and melanocytes regarding the genomic status of CDKN2A and MC1R genes.  113-113. 2011