Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Jonathan M Mudge"'
Autor:
A.M. Whited, Irwin Jungreis, Jeffre Allen, Christina L. Cleveland, Jonathan M. Mudge, Manolis Kellis, John L. Rinn, Loren E. Hough
Publikováno v:
Biophysical Reports, Vol 4, Iss 3, Pp 100167- (2024)
Significant efforts have been made to characterize the biophysical properties of proteins. Small proteins have received less attention because their annotation has historically been less reliable. However, recent improvements in sequencing, proteomic
Externí odkaz:
https://doaj.org/article/061a0541e88540b1b70464949f95f35e
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:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Abstract The synthesis of most proteins begins at AUG codons, yet a small number of non-AUG initiated proteoforms are also known. Here we analyse a large number of publicly available Ribo-seq datasets to identify novel, previously uncharacterised non
Externí odkaz:
https://doaj.org/article/14d6f587a3ea4037a0db7d86278ff798
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/5270963e2d764e298a6b93db10594636
Autor:
Susanna Pagni, Helena Martins Custodio, Adam Frankish, Jonathan M Mudge, James D Mills, Sanjay M Sisodiya
Publikováno v:
Human Molecular Genetics. 32:1753-1763
Pathogenic variations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene are responsible for multiple epilepsy phenotypes, including Dravet syndrome, febrile seizures (FS) and genetic epilepsy with FS plus. Phenotypic heterogeneity is a
Autor:
Luigi Grassi, Osagie G. Izuogu, Natasha A.N. Jorge, Denis Seyres, Mariona Bustamante, Frances Burden, Samantha Farrow, Neda Farahi, Fergal J. Martin, Adam Frankish, Jonathan M. Mudge, Myrto Kostadima, Romina Petersen, John J. Lambourne, Sophia Rowlston, Enca Martin-Rendon, Laura Clarke, Kate Downes, Xavier Estivill, Paul Flicek, Joost H.A. Martens, Marie-Laure Yaspo, Hendrik G. Stunnenberg, Willem H. Ouwehand, Fabio Passetti, Ernest Turro, Mattia Frontini
Publikováno v:
Haematologica, Vol 106, Iss 10 (2020)
Transcriptional profiling of hematopoietic cell subpopulations has helped to characterize the developmental stages of the hematopoietic system and the molecular bases of malignant and non-malignant blood diseases. Previously, only the genes targeted
Externí odkaz:
https://doaj.org/article/fc260f918bfb4ac080d707f06026c2c3
Autor:
John R. Prensner, Jennifer G. Abelin, Leron W. Kok, Karl R. Clauser, Jonathan M. Mudge, Jorge Ruiz-Orera, Michal Bassani-Sternberg, Eric W. Deutsch, Sebastiaan van Heesch
Publikováno v:
bioRxiv
Ribosome profiling (Ribo-seq) has proven transformative for our understanding of the human genome and proteome by illuminating thousands of non-canonical sites of ribosome translation outside of the currently annotated coding sequences (CDSs). A cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a840ce9ffe188ebdd004e14f72306e
https://doi.org/10.1101/2023.05.16.541049
https://doi.org/10.1101/2023.05.16.541049
Autor:
Katri Silvennoinen, Kinga Gawel, Despina Tsortouktzidis, Julika Pitsch, Saud Alhusaini, Karen M. J. van Loo, Richard Picardo, Zuzanna Michalak, Susanna Pagni, Helena Martins Custodio, James Mills, Christopher D. Whelan, Greig I. de Zubicaray, Katie L. McMahon, Wietske van der Ent, Karolina J. Kirstein-Smardzewska, Ettore Tiraboschi, Jonathan M. Mudge, Adam Frankish, Maria Thom, Margaret J. Wright, Paul M. Thompson, Susanne Schoch, Albert J. Becker, Camila V. Esguerra, Sanjay M. Sisodiya
Publikováno v:
Acta Neuropathol (Berl) 144(1), 107-127 (2022). doi:10.1007/s00401-022-02429-0
Acta Neuropathologica
Acta Neuropathologica
Acta Neuropathol (Berl) 144(1), 107-127 (2022). doi:10.1007/s00401-022-02429-0
Published by Springer, Berlin ; Heidelberg
Published by Springer, Berlin ; Heidelberg
Autor:
Joannella Morales, Shashikant Pujar, Jane E. Loveland, Alex Astashyn, Ruth Bennett, Andrew Berry, Eric Cox, Claire Davidson, Olga Ermolaeva, Catherine M. Farrell, Reham Fatima, Laurent Gil, Tamara Goldfarb, Jose M. Gonzalez, Diana Haddad, Matthew Hardy, Toby Hunt, John Jackson, Vinita S. Joardar, Michael Kay, Vamsi K. Kodali, Kelly M. McGarvey, Aoife McMahon, Jonathan M. Mudge, Daniel N. Murphy, Michael R. Murphy, Bhanu Rajput, Sanjida H. Rangwala, Lillian D. Riddick, Françoise Thibaud-Nissen, Glen Threadgold, Anjana R. Vatsan, Craig Wallin, David Webb, Paul Flicek, Ewan Birney, Kim D. Pruitt, Adam Frankish, Fiona Cunningham, Terence D. Murphy
Publikováno v:
Nature. 604:310-315
Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. T
Autor:
Fiona Cunningham, James E Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Olanrewaju Austine-Orimoloye, Andrey G Azov, If Barnes, Ruth Bennett, Andrew Berry, Jyothish Bhai, Alexandra Bignell, Konstantinos Billis, Sanjay Boddu, Lucy Brooks, Mehrnaz Charkhchi, Carla Cummins, Luca Da Rin Fioretto, Claire Davidson, Kamalkumar Dodiya, Sarah Donaldson, Bilal El Houdaigui, Tamara El Naboulsi, Reham Fatima, Carlos Garcia Giron, Thiago Genez, Jose Gonzalez Martinez, Cristina Guijarro-Clarke, Arthur Gymer, Matthew Hardy, Zoe Hollis, Thibaut Hourlier, Toby Hunt, Thomas Juettemann, Vinay Kaikala, Mike Kay, Ilias Lavidas, Tuan Le, Diana Lemos, José Carlos Marugán, Shamika Mohanan, Aleena Mushtaq, Marc Naven, Denye N Ogeh, Anne Parker, Andrew Parton, Malcolm Perry, Ivana Piližota, Irina Prosovetskaia, Manoj Pandian Sakthivel, Ahamed Imran Abdul Salam, Bianca M Schmitt, Helen Schuilenburg, Dan Sheppard, José G Pérez-Silva, William Stark, Emily Steed, Kyösti Sutinen, Ranjit Sukumaran, Dulika Sumathipala, Marie-Marthe Suner, Michal Szpak, Anja Thormann, Francesca Floriana Tricomi, David Urbina-Gómez, Andres Veidenberg, Thomas A Walsh, Brandon Walts, Natalie Willhoft, Andrea Winterbottom, Elizabeth Wass, Marc Chakiachvili, Bethany Flint, Adam Frankish, Stefano Giorgetti, Leanne Haggerty, Sarah E Hunt, Garth R IIsley, Jane E Loveland, Fergal J Martin, Benjamin Moore, Jonathan M Mudge, Matthieu Muffato, Emily Perry, Magali Ruffier, John Tate, David Thybert, Stephen J Trevanion, Sarah Dyer, Peter W Harrison, Kevin L Howe, Andrew D Yates, Daniel R Zerbino, Paul Flicek
Publikováno v:
Nucleic Acids Research
Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and it also provides deep comprehensive ann