sample of publications
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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
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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
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book chapters
- Bioengineered Skin. In: Skin Biopsy: Perspectives. INTECH. 261-296. 2011
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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