Angeles Mencia
Madrid, MD 28040, Spain
Last Updated: 09/26/2026
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Found 15 publications
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.
Journal: Journal of medical genetics
Published: June 01, 2025
Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.
Journal: Human gene therapy
Published: May 28, 2025
Nonviral CRISPR/Cas9 mutagenesis for streamlined generation of mouse lung cancer models.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 03, 2024
Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa.
Journal: Scientific reports
Published: March 04, 2024
Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors.
Journal: Molecular therapy. Methods & clinical development
Published: January 13, 2022
Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: August 08, 2020
Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome.
Journal: Molecular therapy. Methods & clinical development
Published: February 07, 2020
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: October 01, 2018
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
Journal: Pediatric dermatology
Published: December 23, 2017
Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.
Journal: Molecular therapy. Nucleic acids
Published: December 22, 2017
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes.
Journal: Molecular therapy. Nucleic acids
Published: February 04, 2016
Last Updated: 09/26/2026