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
  • Epithelial-mesenchymal crosstalk communication promotes fibroblast activation and fibrosis in RDEB.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  143:S63-S63. 2023
  • 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
  • Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  142:1227-1230.e4. 2022
  • The RareDis corpus: A corpus annotated with rare diseases, their signs and symptoms.  JOURNAL OF BIOMEDICAL INFORMATICS.  125:1-12. 2022
  • Molecular characterization of the response to haploidentical mesenchymal stem cells treatment in recessive dystrophic epidermolysis bullosa patients.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  141:S176-S176. 2021
  • 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 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
  • 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
  • Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.  MOLECULAR THERAPY.  27:986-998. 2019
  • 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

• book chapters 

  • Organotypic and humanized animal models of genodermatoses. In: Skin tissue models.  Academic Press. 77-102. 2017

• conference contributions 

  • Multi-organ characterization of inflammation and fibrosis in a hypomorphic RDEB mouse model 2024
  • Development of an annotated corpus of rare diseases to promote an accurate diagnosis.  70-70. 2021
  • 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
  • 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
  • Safety criteria and patient selection in a cell-based clinical trial for the systemic treatment of recessive dystrophic epidermolysis bullosa: MesenSistem-EB 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

• theses 

  • Identification and functional characterization of mutation-independent disease-severity modulators in recessive dystrophic epidermolysis bullosa