المؤلفون: Guang‐Jie Zhu, Yuhang Huang, Linqing Zhang, Keji Yan, Cui Qiu, Yihan He, Qing Liu, Chengwen Zhu, Matías Morín, Miguel Ángel Moreno‐Pelayo, Min‐Sheng Zhu, Xin Cao, Han Zhou, Xiaoyun Qian, Zhigang Xu, Jie Chen, Xia Gao, Guoqiang Wan

المصدر: EMBO Molecular Medicine, Vol 15, Iss 11, Pp 1-20 (2023)

مصطلحات موضوعية: ADNSHL, cingulin, cuticular plate, hair cells, hearing loss, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/8e775ad618694efebba7ec761a5f62d4

المؤلفون: María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo

المصدر: Disease Models & Mechanisms, Vol 16, Iss 8 (2023)

مصطلحات موضوعية: progressive hearing loss, deafness, next-generation sequencing, dfna44, ccdc50, ymer, mouse mutant, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/16/8/dmm049757; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/c6c51b6550434d268a2800313a33a8f2

المؤلفون: Nadia Madrid-Elena, Sergio Serrano-Villar, Carolina Gutiérrez, Beatriz Sastre, Matías Morín, Laura Luna, Laura Martín, Javier Santoyo-López, María Rosa López-Huertas, Elena Moreno, María Laura García-Bermejo, Miguel Ángel Moreno-Pelayo, Santiago Moreno

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: micro-RNA, cytotoxicity, cellular immunity, non-coding RNA, HIV, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.998368/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/3e31d5bb5f1a41808bf99a068631a31a

المؤلفون: Arístides López-Márquez, Matías Morín, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera-de Benito, Carlos Ortez, Andrés Nascimento, Daniel Grinberg, Susanna Balcells, Mónica Roldán, Miguel Ángel Moreno-Pelayo, Cecilia Jiménez-Mallebrera

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 8; Pages: 4410

مصطلحات موضوعية: congenital muscular dystrophies, collagen VI-related disorders, dominant negative mutations, allele-specific silencing, CRISPR/Cas9, gene editing, COL6A1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23084410

الاتاحة: https://doi.org/10.3390/ijms23084410

المؤلفون: Saint T. Cervera, Carlos Rodríguez-Martín, Enrique Fernández-Tabanera, Raquel M. Melero-Fernández de Mera, Matias Morin, Sergio Fernández-Peñalver, Maria Iranzo-Martínez, Jorge Amhih-Cardenas, Laura García-García, Laura González-González, Miguel Angel Moreno-Pelayo, Javier Alonso

المصدر: Cancers; Volume 13; Issue 15; Pages: 3783

مصطلحات موضوعية: Ewing sarcoma, EWSR1–FLI1, CRISPR/Cas9, gene therapy, cell cycle arrest, senescence

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers13153783

الاتاحة: https://doi.org/10.3390/cancers13153783

المؤلفون: María Lachgar, Matías Morín, Manuela Villamar, Ignacio del Castillo, Miguel Ángel Moreno-Pelayo

المصدر: Genes; Volume 12; Issue 3; Pages: 411

مصطلحات موضوعية: hereditary hearing loss, next-generation sequencing, custom panel, HOMER2, CDC42

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12030411

الاتاحة: https://doi.org/10.3390/genes12030411

المؤلفون: Amina Al Yassin, Felice D’Arco, Matías Morín, Waheeda Pagarkar, Katherine Harrop-Griffiths, Azhar Shaida, Elena Fernández, Tom Cullup, Bianca De-Souza, Miguel Angel Moreno-Pelayo, Maria Bitner-Glindzicz

المصدر: Genes, Vol 10, Iss 7, p 529 (2019)

مصطلحات موضوعية: FGF3, LAMM syndrome, labyrinthine aplasia, microtia, and microdontia, congenital deafness, external ear abnormalities, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/10/7/529; https://doaj.org/toc/2073-4425; https://doaj.org/article/ec6fedf42d7a4d9fb9fd44526984b742

الاتاحة: https://doi.org/10.3390/genes10070529
https://doaj.org/article/ec6fedf42d7a4d9fb9fd44526984b742

المؤلفون: María Rosa López-Huertas, Matías Morín, Nadia Madrid-Elena, Carolina Gutiérrez, Laura Jiménez-Tormo, Javier Santoyo, Francisco Sanz-Rodríguez, Miguel Ángel Moreno Pelayo, Laura García Bermejo, Santiago Moreno

المصدر: Molecular Therapy: Nucleic Acids, Vol 17, Iss , Pp 323-336 (2019)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S2162253119301696; https://doaj.org/toc/2162-2531; https://doaj.org/article/e4eef784a2814956b150029ec0a01d71

الاتاحة: https://doi.org/10.1016/j.omtn.2019.06.006
https://doaj.org/article/e4eef784a2814956b150029ec0a01d71

المؤلفون: Irene Bravo‐Alonso, Matías Morin, Laura Arribas‐Carreira, Mar Álvarez, Consuelo Pedrón‐Giner, Lucia Soletto, Carlos Santolaria, Santiago Ramón‐Maiques, Magdalena Ugarte, Pilar Rodríguez‐Pombo, Joaquín Ariño, Miguel Ángel Moreno‐Pelayo, Belén Pérez

المساهمون: UAM. Departamento de Biología Molecular, Instituto de Salud Carlos III, European Commission, Ministerio de Economía, Industria y Competitividad (España), Comunidad de Madrid, Ramón-Maiques, Santiago

المصدر: Journal of inherited metabolic diseaseREFERENCES.

مصطلحات موضوعية: PPCDC, Genetics, Dilated cardiomyopathy, Inborn errors of metabolism, Biología y Biomedicina / Biología, Genetics (clinical), Biosynthesis of coenzyme A

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98c457713d4d31523cbcde5abd97d49
https://pubmed.ncbi.nlm.nih.gov/36564894

المؤلفون: Sara Fañanas-Baquero, Matías Morín, Sergio Fernández, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Miruna Giurgiu, Juan A. Bueren, Miguel Angel Moreno-Pelayo, Jose Carlos Segovia, Oscar Quintana-Bustamante

مصطلحات موضوعية: Genetics, Molecular Biology, Genetic Engineering, Molecular Medicine, Gene and Molecular Therapy, pyruvate kinase deficiency, point mutation, ssODN, CRISPR/Cas9, precise gene editing, allele specificity

Relation: https://figshare.com/articles/dataset/DataSheet1_Specific_correction_of_pyruvate_kinase_deficiency-causing_point_mutations_by_CRISPR_Cas9_and_single-stranded_oligodeoxynucleotides_pdf/22715983

الاتاحة: https://doi.org/10.3389/fgeed.2023.1104666.s001
https://figshare.com/articles/dataset/DataSheet1_Specific_correction_of_pyruvate_kinase_deficiency-causing_point_mutations_by_CRISPR_Cas9_and_single-stranded_oligodeoxynucleotides_pdf/22715983

المؤلفون: María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: parental mosaicism, PAX6, aniridia, variable expressivity, microphthalmia, post-zygotic variants, Genetics, QH426-470

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00479/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/801dfb1417c14445be3ac489617f1f8a

الاتاحة: https://doi.org/10.3389/fgene.2018.00479
https://doaj.org/article/801dfb1417c14445be3ac489617f1f8a

المؤلفون: Nadia Madrid-Elena, Sergio Serrano-Villar, Carolina Gutiérrez, Beatriz Sastre, Matías Morín, Laura Luna, Laura Martín, Javier Santoyo-López, María Rosa López-Huertas, Elena Moreno, María Laura García-Bermejo, Miguel Ángel Moreno-Pelayo, Santiago Moreno

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, micro-RNA, cytotoxicity, cellular immunity, non-coding RNA, HIV

Relation: https://figshare.com/articles/dataset/DataSheet_1_Selective_miRNA_inhibition_in_CD8_cytotoxic_T_lymphocytes_enhances_HIV-1_specific_cytotoxic_responses_zip/21205082

الاتاحة: https://doi.org/10.3389/fimmu.2022.998368.s001
https://figshare.com/articles/dataset/DataSheet_1_Selective_miRNA_inhibition_in_CD8_cytotoxic_T_lymphocytes_enhances_HIV-1_specific_cytotoxic_responses_zip/21205082

المؤلفون: Kevin Legan, Richard Goodyear, Matias Morin, Angeles Mencia, Hilary Pollard, Leticia Olavarrieta, Julia Jurievna Korchagina, Silvia Modiamo-Hoybjor, Fernando Mayo, Felipe Moreno, Miguel-Angel Moreno-Pelayo, Guy Richardson

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23400476.v1; https://figshare.com/articles/journal_contribution/Three_deaf_mice_mouse_models_for_TECTA-based_human_hereditary_deafness_reveal_domain-specific_structural_phenotypes_in_the_tectorial_membrane/23400476

الاتاحة: https://figshare.com/articles/journal_contribution/Three_deaf_mice_mouse_models_for_TECTA-based_human_hereditary_deafness_reveal_domain-specific_structural_phenotypes_in_the_tectorial_membrane/23400476

المؤلفون: Sara Fañanas-Baquero, Matías Morín, Sergio Fernández, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Miruna Giurgiu, Juan A. Bueren, Miguel Angel Moreno-Pelayo, Jose Carlos Segovia, Oscar Quintana-Bustamante

المصدر: Frontiers in Genome Editing, Vol 5 (2023)

مصطلحات موضوعية: pyruvate kinase deficiency, point mutation, ssODN, CRISPR/Cas9, precise gene editing, allele specificity, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgeed.2023.1104666/full; https://doaj.org/toc/2673-3439

URL الوصول: https://doaj.org/article/9304ddc2d19f4b5a87e0230bce6ecc47

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

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23363204.v1; https://figshare.com/articles/journal_contribution/In_vivo_and_in_vitro_effects_of_two_novel_gamma-actin_ACTG1_mutations_that_cause_DFNA20_26_hearing_impairment/23363204

الاتاحة: https://figshare.com/articles/journal_contribution/In_vivo_and_in_vitro_effects_of_two_novel_gamma-actin_ACTG1_mutations_that_cause_DFNA20_26_hearing_impairment/23363204

المؤلفون: Miguel Ángel Moreno-Pelayo, Richard Goodyear, Ángeles Mencía, Silvia Modamio-Høybjør, P Kevin Legan, Leticia Olavarrieta, Felipe Moreno, Guy Richardson

مصطلحات موضوعية: Uncategorised value

Relation: 10779/uos.23368343.v1; https://figshare.com/articles/journal_contribution/Characterization_of_a_spontaneous_recessive_missense_mutation_arising_in_the_Tecta_gene/23368343

الاتاحة: https://figshare.com/articles/journal_contribution/Characterization_of_a_spontaneous_recessive_missense_mutation_arising_in_the_Tecta_gene/23368343

المؤلفون: Recio Hoyas, María José, Miguel Angel Moreno Pelayo, Sara S. Kiliç, Alberto C. Guardo, Ozden Sanal, Allende Martínez, Luis Miguel, Verónica Pérez Flores, Angeles Mencía, Silvia Modamio Høybjør, Elena Seoane, Regueiro González-Barros, José Ramón

مصطلحات موضوعية: 612.017, Ciencias Biomédicas, 32 Ciencias Médicas

وصف الملف: application/pdf

Relation: BFU2005-01738/BMC; BMC2002-3247; GR/SAL/ 0570/2004; https://hdl.handle.net/20.500.14352/98940; Recio MJ, Moreno-Pelayo MA, Kiliç SS, Guardo AC, Sanal O, Allende LM, Pérez-Flores V, Mencía A, Modamio-Høybjør S, Seoane E, Regueiro JR. Differential biological role of CD3 chains revealed by human immunodeficiencies. J Immunol. 2007 Feb 15;178(4):2556-64. doi:10.4049/jimmunol.178.4.2556. PMID: 17277165.; https://journals.aai.org/jimmunol/article/178/4/2556/75355/Differential-Biological-Role-of-CD3-Chains; https://pubmed.ncbi.nlm.nih.gov/17277165/

الاتاحة: https://hdl.handle.net/20.500.14352/98940
https://doi.org/10.4049/jimmunol.178.4.2556
https://journals.aai.org/jimmunol/article/178/4/2556/75355/Differential-Biological-Role-of-CD3-Chains
https://pubmed.ncbi.nlm.nih.gov/17277165/