Publications by authors named "Angeles Mencía"

20Publications

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

Authors:
Victoria Gálvez Esteban Chacón-Solano Jose Bonafont Ángeles Mencía Wei-Li Di Rodolfo Murillas Sara Llames Asunción Vicente Marcela Del Rio Marta Carretero Fernando Larcher

Mol Ther Methods Clin Dev 2020 Sep 11;18:280-290. Epub 2020 Jun 11.

Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), 28040 Madrid, Spain.

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September 2020

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

Authors:
Jose Bonafont Ángeles Mencía Marta García Raúl Torres Sandra Rodríguez Marta Carretero Esteban Chacón-Solano Silvia Modamio-Høybjør Lucía Marinas Carlos León María J Escamez Ingrid Hausser Marcela Del Río Rodolfo Murillas Fernando Larcher

Mol Ther 2019 05 15;27(5):986-998. Epub 2019 Mar 15.

Department of Biomedical Engineering, Carlos III University (UC3M), Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) U714, Madrid, Spain; Fundación Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Madrid, Spain; Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain. Electronic address:

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May 2019

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

Authors:
Ángeles Mencía Cristina Chamorro Jose Bonafont Blanca Duarte Almudena Holguin Nuria Illera Sara G Llames Maria José Escámez Ingrid Hausser Marcela Del Río Fernando Larcher Rodolfo Murillas

Mol Ther Nucleic Acids 2018 Jun 31;11:68-78. Epub 2018 Jan 31.

Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain; Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) U714, Madrid, Spain. Electronic address:

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June 2018

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

Authors:
Nicole Knöpfel Lucero Noguera-Morel Angela Hernández-Martin Adela García-Martin Marta García Ángeles Mencía Rocío Maseda Pedrero Raúl de Lucas Maria José Escámez Antonio Torrelo

Pediatr Dermatol 2018 Mar 22;35(2):e94-e98. Epub 2017 Dec 22.

Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

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March 2018

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

Authors:
Cristina Chamorro Angeles Mencía David Almarza Blanca Duarte Hildegard Büning Jessica Sallach Ingrid Hausser Marcela Del Río Fernando Larcher Rodolfo Murillas

Mol Ther Nucleic Acids 2016 Apr 5;5:e307. Epub 2016 Apr 5.

Epithelial Biomedicine Division, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain.

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April 2016

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

Authors:
Ángeles Mencía Marta García Eva García Sara Llames Alexandra Charlesworth Raúl de Lucas Asunción Vicente María José Trujillo-Tiebas Pablo Coto Marta Costa Ángel Vera Arantxa López-Pestaña Rodolfo Murillas Guerrino Meneguzzi José Luis Jorcano Claudio J Conti María José Escámez Toledano Marcela del Río Nechaevsky

Exp Dermatol 2016 Apr 13;25(4):269-74. Epub 2016 Feb 13.

Department of Bioengineering, Tissue Engineering and Regenerative Medicine Group (TERMeG), Universidad Carlos III de Madrid, Madrid, Spain.

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April 2016

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

Authors:
P Kevin Legan Richard J Goodyear Matías Morín Angeles Mencia Hilary Pollard Leticia Olavarrieta Julia Korchagina Silvia Modamio-Hoybjor Fernando Mayo Felipe Moreno Miguel-Angel Moreno-Pelayo Guy P Richardson

Hum Mol Genet 2014 May 20;23(10):2551-68. Epub 2013 Dec 20.

School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9QG, UK.

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May 2014

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.

Authors:
Cristina Chamorro David Almarza Blanca Duarte Sara G Llames Rodolfo Murillas Marta García Juan C Cigudosa Luis Espinosa-Hevia Maria José Escámez Angeles Mencía Alvaro Meana Ramón García-Escudero Rosa Moro Claudio J Conti Marcela Del Río Fernando Larcher

Exp Dermatol 2013 Sep;22(9):601-3

Epithelial Biomedicine Division, Cutaneous Disease Modelling Unit, CIEMAT, Madrid, Spain.

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September 2013

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

Authors:
Juana Gil Elena M Busto Beatriz Garcillán Carmen Chean Maria Cruz García-Rodríguez Andrea Díaz-Alderete Joaquín Navarro Jesús Reiné Angeles Mencía Dolores Gurbindo Cristina Beléndez Isabel Gordillo Marlena Duchniewicz Kerstin Höhne Félix García-Sánchez Eduardo Fernández-Cruz Eduardo López-Granados Wolfgang W A Schamel Miguel A Moreno-Pelayo María J Recio José R Regueiro

J Clin Invest 2011 Oct 19;121(10):3872-6. Epub 2011 Sep 19.

Gregorio Maranon University Hospital, Madrid, Spain.

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October 2011

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

Authors:
Michael S Hildebrand Matías Morín Nicole C Meyer Fernando Mayo Silvia Modamio-Hoybjor Angeles Mencía Leticia Olavarrieta Carmelo Morales-Angulo Carla J Nishimura Heather Workman Adam P DeLuca Ignacio del Castillo Kyle R Taylor Bruce Tompkins Corey W Goodman Isabelle Schrauwen Maarten Van Wesemael K Lachlan A Eliot Shearer Terry A Braun Patrick L M Huygen Hannie Kremer Guy Van Camp Felipe Moreno Thomas L Casavant Richard J H Smith Miguel A Moreno-Pelayo

Hum Mutat 2011 Jul 7;32(7):825-34. Epub 2011 Jun 7.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.

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July 2011

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

Authors:
Matías Morín Keith E Bryan Fernando Mayo-Merino Richard Goodyear Angeles Mencía Silvia Modamio-Høybjør Ignacio del Castillo Jessica M Cabalka Guy Richardson Felipe Moreno Peter A Rubenstein Miguel Angel Moreno-Pelayo

Hum Mol Genet 2009 Aug 28;18(16):3075-89. Epub 2009 May 28.

Unidad de Genética Molecular, Hospital Ramón y Cajal, 28034 Madrid, Spain.

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August 2009

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

Authors:
Angeles Mencía Silvia Modamio-Høybjør Nick Redshaw Matías Morín Fernando Mayo-Merino Leticia Olavarrieta Luis A Aguirre Ignacio del Castillo Karen P Steel Tamas Dalmay Felipe Moreno Miguel Angel Moreno-Pelayo

Nat Genet 2009 May 12;41(5):609-13. Epub 2009 Apr 12.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.

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May 2009

Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.

Authors:
Miguel Angel Moreno-Pelayo Richard J Goodyear Angeles Mencía Silvia Modamio-Høybjør P Kevin Legan Leticia Olavarrieta Felipe Moreno Guy P Richardson

J Assoc Res Otolaryngol 2008 Jun 2;9(2):202-14. Epub 2008 May 2.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain.

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June 2008

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

Authors:
Anna P Valeri Noemí Aguilera-Montilla Mercedes López-Santalla Angeles Mencía Cristina Rodríguez-Juan Alberto Gutiérrez-Calvo Javer Martín Inmaculada Lasa Luis García-Sancho Javier Granell Mercedes Pérez-Blas José M Martín-Villa

Immunol Cell Biol 2008 Mar-Apr;86(3):289-91. Epub 2008 Feb 19.

Inmunología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

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July 2008

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

Authors:
Angeles Mencía Daniel González-Nieto Silvia Modamio-Høybjør Ainhoa Etxeberría Gracia Aránguez Nieves Salvador Ignacio Del Castillo Alvaro Villarroel Felipe Moreno Luis Barrio Miguel Angel Moreno-Pelayo

Hum Genet 2008 Feb 21;123(1):41-53. Epub 2007 Nov 21.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain.

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February 2008

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

Authors:
Esther Mancebo Miguel A Moreno-Pelayo Angeles Mencía Oscar de la Calle-Martín Luis M Allende Padma Sivadorai Luba Kalaydjieva Jaume Bertranpetit Eliecer Coto Sara Calleja-Antolín Jesus Ruiz-Contreras Estela Paz-Artal

Mol Immunol 2008 Jan 20;45(2):479-84. Epub 2007 Jul 20.

Servicio de Inmunología, Hospital Universitario 12 de Octubre, Avda Córdoba s/n, 28041 Madrid, Spain.

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January 2008

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

Authors:
Silvia Modamio-Hoybjor Angeles Mencia Richard Goodyear Ignacio del Castillo Guy Richardson Felipe Moreno Miguel Angel Moreno-Pelayo

Am J Hum Genet 2007 Jun 24;80(6):1076-89. Epub 2007 Apr 24.

Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain.

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June 2007

Differential biological role of CD3 chains revealed by human immunodeficiencies.

Authors:
María J Recio Miguel Angel Moreno-Pelayo Sara S Kiliç Alberto C Guardo Ozden Sanal Luis M Allende Verónica Pérez-Flores Angeles Mencía Silvia Modamio-Høybjør Elena Seoane José R Regueiro

J Immunol 2007 Feb;178(4):2556-64

Inmunología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

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February 2007

Herpesvirus saimiri (HVS)-transformed T-cell lines: a method to study mucosal T cells in inflammatory bowel disease.

Authors:
Noemí Aguilera-Montilla Mercedes Pérez-Blas Anna Paola Valeri Mercedes López-Santalla Cristina Rodríguez-Juan Angeles Mencía Gregorio Castellano María Luisa Manzano Begoña Casis Fernando Sánchez José Manuel Martín-Villa

Scand J Gastroenterol 2006 Nov;41(11):1361-3

Inmunología, Facultad de Medicina, Universidad Complutense de Madrid, Spain.

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November 2006

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

Authors:
Silvia Modamio-Høybjør Miguel Angel Moreno-Pelayo Angeles Mencía Ignacio del Castillo Sebastian Chardenoux Daniel Armenta Mark Lathrop Christine Petit Felipe Moreno

Hum Genet 2003 Jan 16;112(1):24-8. Epub 2002 Oct 16.

Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain.

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January 2003