Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Michael L Tress"'
Publikováno v:
PLoS Computational Biology, Vol 16, Iss 10, p e1008287 (2020)
The role of alternative splicing is one of the great unanswered questions in cellular biology. There is strong evidence for alternative splicing at the transcript level, and transcriptomics experiments show that many splice events are tissue specific
Externí odkaz:
https://doaj.org/article/e14382a062824186b48ee03bf6faf5f6
Autor:
Federico Abascal, Iakes Ezkurdia, Juan Rodriguez-Rivas, Jose Manuel Rodriguez, Angela del Pozo, Jesús Vázquez, Alfonso Valencia, Michael L Tress
Publikováno v:
PLoS Computational Biology, Vol 11, Iss 6, p e1004325 (2015)
Alternative splicing of messenger RNA can generate a wide variety of mature RNA transcripts, and these transcripts may produce protein isoforms with diverse cellular functions. While there is much supporting evidence for the expression of alternative
Externí odkaz:
https://doaj.org/article/e00df042d0f840439d822fdb326926fb
Autor:
Sarah Djebali, Julien Lagarde, Philipp Kapranov, Vincent Lacroix, Christelle Borel, Jonathan M Mudge, Cédric Howald, Sylvain Foissac, Catherine Ucla, Jacqueline Chrast, Paolo Ribeca, David Martin, Ryan R Murray, Xinping Yang, Lila Ghamsari, Chenwei Lin, Ian Bell, Erica Dumais, Jorg Drenkow, Michael L Tress, Josep Lluís Gelpí, Modesto Orozco, Alfonso Valencia, Nynke L van Berkum, Bryan R Lajoie, Marc Vidal, John Stamatoyannopoulos, Philippe Batut, Alex Dobin, Jennifer Harrow, Tim Hubbard, Job Dekker, Adam Frankish, Kourosh Salehi-Ashtiani, Alexandre Reymond, Stylianos E Antonarakis, Roderic Guigó, Thomas R Gingeras
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e28213 (2012)
The classic organization of a gene structure has followed the Jacob and Monod bacterial gene model proposed more than 50 years ago. Since then, empirical determinations of the complexity of the transcriptomes found in yeast to human has blurred the d
Externí odkaz:
https://doaj.org/article/812c3a8d26464239be0aee257e827b33
Publikováno v:
Genome Biology and Evolution. 14
The mutually exclusive splicing of tandem duplicated exons produces protein isoforms that are identical save for a homologous region that allows for the fine tuning of protein function. Tandem duplicated exon substitution events are rare, yet highly
Autor:
Sayaka Kayumi, Luis A. Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García-Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher P. Barnett, Fernando Santos-Simarro, Marta Pacio-Míguez, Angela del Pozo, Somayeh Bakhtiari, Matthew Deardorff, Holly A. Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth J. Bhoj, Dong Li, Xilma R. Ortiz-Gonzalez, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Perez de Nanclares, Arrate Pereda, Isabel Llano-Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin-Robinet, Laurence Faivre, Aurore Garde, Benoit Mazel, Ange-Line Bruel, Michael L. Tress, Eva Brilstra, Amena Smith Fine, Kylie E. Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi C.J. Stevens, Joost Nicolai, Gaetan Lesca, Laurence Lion-François, Damien Haye, Nicolas Chatron, Amelie Piton, Mathilde Nizon, Benjamin Cogne, Siddharth Srivastava, Jennifer Bassetti, Candace Muss, Karen W. Gripp, Rebecca A. Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andres Moreno-De-Luca, Shelagh Joss, Mark J. Hamilton, Marta Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gecz, Mark A. Corbett
Publikováno v:
Genetics in Medicine, 24(11), 2351-2366. Nature Publishing Group
PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy (CP). We investigated the ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39da46305e279508a3404a4fa7b9a021
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
https://cris.maastrichtuniversity.nl/en/publications/8765aa6f-3ad3-4759-bfa6-47bb6f32b0fc
Publikováno v:
npj Genomic Medicine. 7
Clinical variant interpretation is highly dependent on the choice of reference transcript. Although the longest transcript has traditionally been chosen as the reference, APPRIS principal and MANE Select transcripts, biologically supported reference
Publikováno v:
Bioinformatics (Oxford, England). 38(Suppl_2)
Motivation Selecting the splice variant that best represents a coding gene is a crucial first step in many experimental analyses, and vital for mapping clinically relevant variants. This study compares the longest isoforms, MANE Select transcripts, A
Publikováno v:
Nucleic Acids Research
Most coding genes in the human genome are annotated with multiple alternative transcripts. However, clear evidence for the functional relevance of the protein isoforms produced by these alternative transcripts is often hard to find. Alternative isofo
Autor:
Fabio C. P. Navarro, Jonathan M. Mudge, S. Mohanan, Adam Frankish, Joel Armstrong, Tiago Grego, Irwin Jungreis, Roderic Guigó, Jinrui Xu, Benedict Paten, Cristina Sisu, Daniel R. Zerbino, Julien Lagarde, Mark Diekhans, José M. González, Michael L. Tress, E. Stapleton, Osagie G. Izuogu, Mark Gerstein, Ian T. Fiddes, Toby Hunt, Sarah Donaldson, Marie Marthe Suner, Fernando Pozo, Andrew D. Yates, S. Carbonell Sala, T. Di Domenico, Matthew Hardy, Barbara Uszczynska-Ratajczak, Fiona Cunningham, Andrew Berry, Anne Parker, Laura Martinez, Alexandra Bignell, Bianca M. Schmitt, Yan Zhang, Jane E. Loveland, Baikang Pei, Jyoti S. Choudhary, F. C. Riera, Paul R. Muir, C. Garcia Giron, Tim Hubbard, Fergal J. Martin, Rory Johnson, Magali Ruffier, If Barnes, James C. Wright, I. Sycheva, Manolis Kellis, Carles Boix, Thibaut Hourlier, Paul Flicek, Maxim Y Wolf, Y. T. Yang, Kerstin Howe
Publikováno v:
Frankish, Adam; Diekhans, Mark; Jungreis, Irwin; Lagarde, Julien; Loveland, Jane E; Mudge, Jonathan M; Sisu, Cristina; Wright, James C; Armstrong, Joel; Barnes, If; Berry, Andrew; Bignell, Alexandra; Boix, Carles; Carbonell Sala, Silvia; Cunningham, Fiona; Di Domenico, Tomás; Donaldson, Sarah; Fiddes, Ian T; García Girón, Carlos; Gonzalez, Jose Manuel; ... (2021). GENCODE 2021. Nucleic acids research, 49(D1), D916-D923. Oxford University Press 10.1093/nar/gkaa1087
Nucleic Acids Research
Nucleic Acids Research
© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research. The GENCODE project annotates human and mouse genes and transcripts supported by experimental data with high accuracy, providing a foundational resource
Autor:
Jesús Vázquez, Tomás Di Domenico, Jose Manuel Rodriguez, Michael L. Tress, Daniel Cerdán-Vélez, Fernando Pozo
Publikováno v:
Nucleic Acids Research
APPRIS (https://appris.bioinfo.cnio.es) is a well-established database housing annotations for protein isoforms for a range of species. APPRIS selects principal isoforms based on protein structure and function features and on cross-species conservati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f2283ba3a8ea7f075c870b2ac40cf5c
https://hdl.handle.net/20.500.12105/15658
https://hdl.handle.net/20.500.12105/15658