Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Matías Morín"'
Autor:
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
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)
Abstract Cingulin (CGN) is a cytoskeleton‐associated protein localized at the apical junctions of epithelial cells. CGN interacts with major cytoskeletal filaments and regulates RhoA activity. However, physiological roles of CGN in development and
Externí odkaz:
https://doaj.org/article/8e775ad618694efebba7ec761a5f62d4
Autor:
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
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Externí odkaz:
https://doaj.org/article/c6c51b6550434d268a2800313a33a8f2
Autor:
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
Publikováno v:
Frontiers in Genome Editing, Vol 5 (2023)
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvate kinase (RPK) enzyme activity. PKD is associated
Externí odkaz:
https://doaj.org/article/9304ddc2d19f4b5a87e0230bce6ecc47
Autor:
María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A. Moreno-Pelayo, Ana B. Elgoyhen, Francisco J. del Castillo, Viviana Dalamón, Ignacio del Castillo
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 2943 (2023)
Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in GJB2, encoding connexin-26, are a major cause of NSHI (the DFNB1 type), but few other genes have significant epidemiological con
Externí odkaz:
https://doaj.org/article/992bbf9bae834364a262f8b6f33463a6
Autor:
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
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
miRNAs dictate relevant virus-host interactions, offering new avenues for interventions to achieve an HIV remission. We aimed to enhance HIV-specific cytotoxic responses—a hallmark of natural HIV control— by miRNA modulation in T cells. We recrui
Externí odkaz:
https://doaj.org/article/3e31d5bb5f1a41808bf99a068631a31a
Autor:
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
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 17, Iss , Pp 323-336 (2019)
HIV remains incurable because of viral persistence in latent reservoirs that are inaccessible to antiretroviral therapy. A potential curative strategy is to reactivate viral gene expression in latently infected cells. However, no drug so far has prov
Externí odkaz:
https://doaj.org/article/e4eef784a2814956b150029ec0a01d71
Autor:
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
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4410 (2022)
Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI,
Externí odkaz:
https://doaj.org/article/a7c48b7eadf54f3da6474333f866978d
Autor:
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
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior
Externí odkaz:
https://doaj.org/article/801dfb1417c14445be3ac489617f1f8a
Publikováno v:
Human Genetics. 141:683-696
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. The frequency of mutations in each gene and the most frequent
Autor:
Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad N. Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, John Greinwald, Jeffrey Holt, Makoto Hosoya, Un-Kyung Kim, Ian Krantz, Suzanne Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morín, Cynthia Morton, Hideki Mutai, Arti Pandya, Richard Smith, Mustafa Tekin, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212
Contains fulltext : 243959.pdf (Publisher’s version ) (Closed access) PURPOSE: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College o