Zobrazeno 1 - 10
of 123
pro vyhledávání: '"L. Ruiz-Perez"'
Autor:
Pablo Barbeito, Raquel Martin-Morales, Adrian Palencia-Campos, Juan Cerrolaza, Celia Rivas-Santos, Leticia Gallego-Colastra, Jose Antonio Caparros-Martin, Carolina Martin-Bravo, Ana Martin-Hurtado, Laura Sánchez-Bellver, Gemma Marfany, Victor L. Ruiz-Perez, Francesc R. Garcia-Gonzalo
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that
Externí odkaz:
https://doaj.org/article/a86e27311a0c49f7aeba15c269909a16
Autor:
Erika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Mona S. Aglan, Ghada A. Otaify, Samia A. Temtamy, Victor L. Ruiz-Perez, Stephen Cross, C. Patrick Royall, P. Eckhard Witten, Chrissy L. Hammond
Publikováno v:
Bone Research, Vol 9, Iss 1, Pp 1-16 (2021)
Abstract Back pain is a common condition with a high social impact and represents a global health burden. Intervertebral disc disease (IVDD) is one of the major causes of back pain; no therapeutics are currently available to reverse this disease. The
Externí odkaz:
https://doaj.org/article/8819c17624e646f48aa4bc6e7acfe858
Autor:
María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Externí odkaz:
https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8
Autor:
Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A. Otaify, Rasha Elhossini, Marina L. Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umut Altunoglu, Mona Aglan, Ebtesam Abdalla, Victor L. Ruiz-Perez
Publikováno v:
Am J Hum Genet
Orofaciodigital syndrome (OFD) is a genetically heterogeneous ciliopathy characterized by anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three unrelated families having bi-allelic loss-of-function variants in SC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac2eebb2fb424ec12f5591bd111872b
https://europepmc.org/articles/PMC9606384/
https://europepmc.org/articles/PMC9606384/
Akademický článek
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Autor:
Ana Lamuedra, Gabriel Herrero-Beaumont, Adrian Palencia-Campos, Aránzazu Mediero, P. Gratal, Raquel Largo, Sergio Portal-Núñez, Lucía Calatrava, Victor L. Ruiz-Perez
BackgroundChondrocytes in osteoarthritic (OA) cartilage acquire a hypertrophic-like phenotype, where Hedgehog (Hh) signaling is pivotal. Hh overexpression causes OA-like cartilage lesions, whereas its downregulation prevents articular destruction in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a49231a016a6605aa995ed6e4ec0fe84
https://doi.org/10.1101/2021.10.29.466392
https://doi.org/10.1101/2021.10.29.466392
Autor:
Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra
Publikováno v:
Case Reports in Genetics, Vol 2015 (2015)
Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syn
Externí odkaz:
https://doaj.org/article/e2bfa111bef842338cd1fef004c9fe4e
Autor:
Corvin D. Arveseth, Jacob L. Capener, Cristina Olivieri, Ju-Fen Zhu, Gianluigi Veglia, Lily Vu, Jan Wilfried Bröckel, C.C. King, Danielle S. Hedeen, John T. Happ, Isaac B. Nelson, Benjamin R. Myers, Susan S. Taylor, Victor L. Ruiz-Perez, Daniela Bertinetti, Jessica Bruystens, Friedrich W. Herberg
The Hedgehog (Hh) cascade is central to development, tissue homeostasis, and cancer. A pivotal step in Hh signal transduction is the activation of GLI transcription factors by the atypical G protein-coupled receptor (GPCR) Smoothened (SMO). How SMO a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dea26f1f8b5789e8b62163a46904f9d
https://doi.org/10.1101/2021.07.05.451193
https://doi.org/10.1101/2021.07.05.451193
Autor:
Mario Solís, Bardón Rivera Mb, Jair Tenorio, Salvador Climent, Pablo Lapunzina, Pablo Alarcón, Gisela Teixido-Tura, Fermina López Grondona, Victor L. Ruiz-Perez, Antonio Martinez Monseny, Juan C. Cigudosa, Mercedes Serrano, Eduardo F. Tizzano, Sara Alvarez, Irene Valenzuela, Gema Gordo, Sergio Ramos, Fernando Santos-Simarro, Fernández Jaén A, Julián Nevado, Palomares Bralo M, Sixto García-Miñaur, Irene Dapía, Jaime Campistol, Alicia Hernández, Pedro Arias, Javier Botet
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Eur J Hum Genet
instname
Eur J Hum Genet
Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially duri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8349a1315583359cc854dc15a3ba8a
https://doi.org/10.1038/s41431-019-0485-3
https://doi.org/10.1038/s41431-019-0485-3
Autor:
Ghada A. Otaify, Ana Rivera-Barahona, Julián Nevado, Denise Horn, Mona Aglan, Samia A. Temtamy, Elisa Fernández-Núñez, Felix Boschann, Nadja Ehmke, Pablo Lapunzina, Ricardo Gomez-Carmona, Victor L. Ruiz-Perez, Sarina Schwartzmann
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Digital.CSIC. Repositorio Institucional del CSIC
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Web of Science
instname
Digital.CSIC. Repositorio Institucional del CSIC
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Web of Science
[Purpose]: This study aimed to identify the genetic cause of a new multiple congenital anomalies syndrome observed in three individuals from two unrelated families.
[Methods]: Clinical assessment was conducted prenatally and at different postnat
[Methods]: Clinical assessment was conducted prenatally and at different postnat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8cddcbef35e8b9e7acb69552f8cb46
http://hdl.handle.net/10486/702149
http://hdl.handle.net/10486/702149