Co-author Network
Co-researcher Network
sample of publications
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articles
- 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 & 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
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book chapters
- Organotypic and humanized animal models of genodermatoses. In: Skin tissue models. Academic Press. 77-102. 2017
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conference contributions
- 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
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theses