A. Mencía

发表

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer‐prone genodermatoses

S. Puig, J. Dopazo, S. Llames, 2019, The British journal of dermatology.

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane

R. Goodyear, G. Richardson, F. Moreno, 2013, Human molecular genetics.

Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome

S. Llames, M. del Río, F. Larcher, 2020, Molecular therapy. Methods & clinical development.

Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors

M. del Río, F. Larcher, Marta García, 2022, Molecular therapy. Methods & clinical development.

A leaky mutation in CD 3 D differentially affects ab and gd T cells and leads to a T ab – T gd + B + NK + human SCID

E. López-Granados, F. Garcia-sanchez, J. R. Regueiro, 2018 .

Non-viral delivery of CRISPR–Cas9 complexes for targeted gene editing via a polymer delivery system

Wenxin Wang, F. Larcher, Marta García, 2021, Gene therapy.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

Adam P. DeLuca, Corey W. Goodman, Bruce W. Tompkins, 2011, Human mutation.

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes

Marta García, R. D. de Lucas, A. Torrelo, 2018, Pediatric dermatology.

Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

M. del Río, F. Larcher, H. Büning, 2016, Molecular therapy. Nucleic acids.

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

Tamas Dalmay, Felipe Moreno, Miguel Ángel Moreno-Pelayo, 2009, Nature Genetics.

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23

M. Lathrop, C. Petit, S. Chardenoux, 2003, Journal of medical genetics.

Herpesvirus saimiri transformation may help disclose inherent functional defects of mucosal T lymphocytes in patients with gastric adenocarcinoma

J. Martin-Villa, J. Granell, M. Lopez-Santalla, 2008, Immunology and cell biology.

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

J. Cigudosa, S. Llames, M. del Río, 2013, Experimental dermatology.

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia

S. Llames, Eva García, Marta García, 2016, Experimental dermatology.

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

R. Goodyear, G. Richardson, F. Moreno, 2009, Human molecular genetics.

Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing

M. del Río, F. Larcher, Marta García, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing

M. del Río, F. Larcher, Marta García, 2019, Molecular therapy : the journal of the American Society of Gene Therapy.

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.

R. Goodyear, G. Richardson, F. Moreno, 2007, American journal of human genetics.

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29

M. Lathrop, C. Petit, F. Moreno, 2002, Human Genetics.

Non-viral delivery of CRISPR–Cas9 complexes for targeted gene editing via a polymer delivery system

F. Larcher, Marta García, Dezhong Zhou, 2021, Gene Therapy.

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

J. Martin-Villa, M. Lopez-Santalla, G. Castellano, 2004, Scandinavian journal of gastroenterology.

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells

S. Llames, M. del Río, F. Larcher, 2018, Molecular therapy. Nucleic acids.

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

R. Goodyear, G. Richardson, F. Moreno, 2008, Journal of the Association for Research in Otolaryngology.

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression

F. Moreno, M. Moreno-Pelayo, L. Barrio, 2008, Human Genetics.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci

M. Lathrop, C. Petit, F. Moreno, 2004, Journal of Medical Genetics.

Differential Biological Role of CD3 Chains Revealed by Human Immunodeficiencies1

O. Sanal, J. R. Regueiro, S. Kilic, 2007, The Journal of Immunology.

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID.

E. López-Granados, F. Garcia-sanchez, J. R. Regueiro, 2011, The Journal of clinical investigation.

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.

J. Bertranpetit, E. Coto, L. Kalaydjieva, 2008, Molecular immunology.

Fibroblasts activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses

S. Llames, F. Larcher, F. García-García, 2019 .