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Author

Ángeles Mencía

Observed names: A. Mencia, Angeles Mencia, Angeles Mencia Rodriguez, Angeles Mencía, Angeles Mencía, Mencia, Angeles, Á. Mencía
Observed institutions: Universidad Complutense de Madrid, University of Sussex, Instituto de Salud Carlos III, Hospital Universitario 12 De Octubre, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Fundación Jiménez Díaz, Hospital Universitario Ramón y Cajal, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Carlos III de Madrid
ORCID: 0000-0002-9977-9514
Observed ORCID: 0000-0002-9977-9514
OpenAlex ID: A5088050328
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
2009 · Ángeles Mencía, Silvia Modamio-Høybjør, et al. · Nature Genetics · 559
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing
2019 · Jose Bonafont, Ángeles Mencía, et al. · Molecular Therapy · 107
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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
2011 · Michael S. Hildebrand, Matías Morín, et al. · Human Mutation · 95
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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment
2009 · Matías Morín, Keith E. Bryan, et al. · Human Molecular Genetics · 81
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Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies
2007 · María J Recio, Miguel Angel Moreno-Pelayo, et al. · The Journal of Immunology · 74
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Non-viral delivery of CRISPR–Cas9 complexes for targeted gene editing via a polymer delivery system
2021 · Jonathan O’Keeffe Ahern, Irene Lara-Sáez, et al. · Gene Therapy · 71
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Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer‐prone genodermatoses
2019 · E. Chacón‐Solano, C. León, et al. · British Journal of Dermatology · 68
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A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss
2007 · Silvia Modamio-Høybjør, Ángeles Mencía, et al. · The American Journal of Human Genetics · 66
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes
2016 · Cristina Chamorro, Angeles Mencía, et al. · Molecular Therapy — Nucleic Acids · 61
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A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ–Tγδ+B+NK+ human SCID
2011 · Juana Gil, Elena M. Busto, et al. · Journal of Clinical Investigation · 57
A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
2007 · Ángeles Mencía, Daniel González-Nieto, et al. · Human Genetics · 55
Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells
2018 · Ángeles Mencía, Cristina Chamorro, et al. · Molecular Therapy — Nucleic Acids · 49
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Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing
2021 · Jose Bonafont, Angeles Mencía, et al. · Molecular Therapy · 42
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Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies
2007 · Esther Mancebo, Miguel A. Moreno-Pelayo, et al. · Molecular Immunology · 34
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29
2003 · Silvia Modamio-Høybjør, Miguel Moreno-Pelayo, et al. · Human Genetics · 29
Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors
2022 · Marta García, Jose Bonafont, et al. · Molecular Therapy — Methods & Clinical Development · 25
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Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome
2020 · Victoria Gálvez, Esteban Chacón-Solano, et al. · Molecular Therapy — Methods & Clinical Development · 25
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Keratinocyte cell lines derived from severe generalized recessive E pidermolysis B ullosa patients carrying a highly recurrent COL 7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo
2013 · Cristina Chamorro, David Almarza, et al. · Experimental Dermatology · 23
Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene
2008 · Miguel Ángel Moreno-Pelayo, Richard J. Goodyear, et al. · Journal of the Association for Research in Otolaryngology · 17
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Identification of two rare and novel large deletions in ITGB 4 gene causing epidermolysis bullosa with pyloric atresia
2016 · Ángeles Mencía, Marta García, et al. · Experimental Dermatology · 15
Nonviral CRISPR/Cas9 mutagenesis for streamlined generation of mouse lung cancer models
2024 · Irene Lara-Sáez, Ángeles Mencía, et al. · Proceedings of the National Academy of Sciences · 6
Higher proliferative capacity of T lymphocytes from patients with Crohn disease than from ulcerative colitis is disclosed by use of Herpesvirus saimiri-transformed T-cell lines
2004 · N. Aguilera-Montilla, M. Pérez-Blas, et al. · Scandinavian Journal of Gastroenterology · 5
Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa
2024 · Irene Jover, Maria C. Ramos, et al. · Scientific Reports · 4
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Identical COL 71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes
2017 · Nicole Knöpfel, Lucero Noguera‐Morel, et al. · Pediatric Dermatology · 4
Herpesvirus saimiri transformation may help disclose inherent functional defects of mucosal T lymphocytes in patients with gastric adenocarcinoma
2008 · Anna P Valeri, Noemí Aguilera‐Montilla, et al. · Immunology and Cell Biology · 2
Works count: 35
Citation count: 1,577
H-index: 18
I10-index: 20
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