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
  • 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
  • 116 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
  • 601 Common mechanisms and signaling pathways in fibroblasts of cancer-prone genodermatoses.  JOURNAL OF INVESTIGATIVE DERMATOLOGY.  137:S295-S295. 2017

• book chapters 

  • Organotypic and humanized animal models of genodermatoses. In: Skin tissue models.  Academic Press. 77-102. 2018

• 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