Identification of Germinal Neurofibromin Hotspots

Autor: Sergio Lois, Juan Báez-Flores, María Isidoro-García, Jesus Lacal, Juan Carlos Triviño

Publikováno v: Biomedicines, Vol 10, Iss 8, p 2044 (2022)

Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (NF1), one of the most common inherited neurological disorders. Recent advances in sequencing and screening of

Externí odkaz: https://doaj.org/article/993d3950cbe54ae4801abac28388f791

Enfoque diagnóstico molecular utilizando secuenciación exómica en las distrofias musculares cintura-cadera

Autor: Andrés Felipe Ramírez Botero, Leidy Johanna Posso Gómez, Andrés Castillo, Carmen Collado, Victoria Fernández Pedrosa, Oscar Rodríguez Cruz, Sergio Lois, Maria Teresa Gil, Jairo Alonso Quiñones, Harry Pachajoa

Publikováno v: Revista de la Facultad de Medicina, Vol 64, Iss 1, Pp 159-164 (2016)

Antecedentes. La distrofia muscular cintura-cadera tipo 1B es una enfermedad con herencia autosómica dominante y secundaria a una mutación en el gen LMNA. Esta enfermedad se caracteriza por su afectación a nivel neuromuscular y cardiaco. Objetivo.

Externí odkaz: https://doaj.org/article/bd1d3b22853b45d8a18013e8470c6cb1

The relationship between gene isoform multiplicity, number of exons and protein divergence.

Autor: Jordi Morata, Santi Béjar, David Talavera, Casandra Riera, Sergio Lois, Gemma Mas de Xaxars, Xavier de la Cruz

Publikováno v: PLoS ONE, Vol 8, Iss 8, p e72742 (2013)

At present we know that phenotypic differences between organisms arise from a variety of sources, like protein sequence divergence, regulatory sequence divergence, alternative splicing, etc. However, we do not have yet a complete view of how these so

Externí odkaz: https://doaj.org/article/3f58128b4be64d37b7af562cd2649fa6

Prefoldin-like Bud27 influences the transcription of ribosomal components and ribosome biogenesis in Saccharomyces cerevisiae

Autor: Juan Carlos Triviño, Ana I. Garrido-Godino, Jesús de la Cruz, Francisco Gutiérrez-Santiago, Olga Rodríguez-Galán, Antonio Jordán-Pla, Francisco Navarro, Verónica Martínez-Fernández, Abel Cuevas-Bermúdez, Sergio Lois

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
Universitat Politècnica de Catalunya (UPC)

Understanding the functional connection that occurs for the three nuclear RNA polymerases to synthesize ribosome components during the ribosome biogenesis process has been the focal point of extensive research. To preserve correct homeostasis on the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0ff8919da3dbcfb6791cb6a4e440c4
http://hdl.handle.net/10261/236419

Lineage specific transcription factors and epigenetic regulators mediate TGFβ-dependent enhancer activation

Autor: Marian A. Martínez-Balbás, Conchi Estarás, Simona Iacobucci, Xavier de la Cruz, Raquel Fueyo, Marta Vicioso-Mantis, Sara Cruz-Molina, Alvaro Rada-Iglesias, Stella Pappa, José C. Reyes, Sergio Lois, Claudia Navarro

Publikováno v: Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nucleic Acids Research

© The Author(s) 2018.
During neurogenesis, dynamic developmental cues, transcription factors and histone modifying enzymes regulate the gene expression programs by modulating the activity of neural-specific enhancers. How transient developmenta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94467ba4422e401a64bd0a8f2271b0e1
http://hdl.handle.net/10261/180513