Results 61 to 70 of about 102,438 (334)

The contribution of Alu exons to the human proteome. [PDF]

, 2016
BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng, Lam, Maggie PY, Lin, Lan, Lu, Zhi-Xiang, Park, Juw Won, Ping, Peipei, Wang, Jinkai, Xing, Yi   +7 more
core   +1 more source

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Transposon insertion profiling by sequencing (TIPseq) for mapping LINE-1 insertions in the human genome

Mobile DNA, 2019
Background Transposable elements make up a significant portion of the human genome. Accurately locating these mobile DNAs is vital to understand their role as a source of structural variation and somatic mutation. To this end, laboratories have developed
Jared P. Steranka, Zuojian Tang, Mark Grivainis, Cheng Ran Lisa Huang, Lindsay M. Payer, Fernanda O. R. Rego, Thiago Luiz Araujo Miller, Pedro A. F. Galante, Sitharam Ramaswami, Adriana Heguy, David Fenyö, Jef D. Boeke, Kathleen H. Burns   +12 more
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Architectural and evolutionary features of TE-derived TSSs shape tissue-specific promoter activity in the human genome

Nature Communications
Transposable elements are abundant in the human genome and have been increasingly recognized as sources of alternative promoters. Yet, the extent of their transcriptional activity in human tissues and the features that govern their regulatory potential ...
Ya Zhang, Yahan Fan, Huang Wu, Xiao-Ou Zhang   +3 more
doaj   +1 more source

Transposable element subfamily annotation has a reproducibility problem

Mobile DNA, 2021
Background Transposable element (TE) sequences are classified into families based on the reconstructed history of replication, and into subfamilies based on more fine-grained features that are often intended to capture family history.
Kaitlin M. Carey, Gilia Patterson, Travis J. Wheeler   +2 more
doaj   +1 more source

Two key events associated with a transposable element burst occurred during rice domestication [PDF]

, 2018
Transposable elements shape genome evolution through periodic bursts of amplification. In this study we exploited knowledge of the components of the mPing/Ping/Pong TE family in four rice strains undergoing mPing bursts to track their copy numbers and ...
Benjamin, Jazmine, Chen, Jinfeng, Diaz, Stephanie, Hancock, Nathan, Lu, Lu, Stajich, Jason, Wessler, Susan   +6 more
core   +1 more source

Integrating transposable elements in the 3D genome [PDF]

, 2019
Chromosome organisation is increasingly recognised as an essential component of genome regulation, cell fate and cell health. Within the realm of transposable elements (TEs) however, the spatial information of how genomes are folded is still only rarely ...
A Bousios, A Bridier-Nahmias, A Buckle, A Ciuffi, A Cournac, A Le Rouzic, AE Hafner, AL Sanborn, AN Boettiger, AP Wolffe, ARW Schroder, B Bonev, B Charlesworth, B Marini, C Vara, C Xue, CA Brackley, CA Brackley, CA Brackley, CA Brackley, CM Caragine, CP Brangwynne, CP Brangwynne, D Jost, D Michieletto, D Michieletto, D Michieletto, D Michieletto, D Pruss, D Pruss, D Schmidt, DG Schatz, DH Sanchez, DJ Winter, E Lieberman-Aiden, E Orlandini, E Serrao, EB Chuong, EP Nora, F Benedetti, F Erdel, G Fudenberg, G Kunarso, GP Wang, H Zayed, HE Lee, Horng D. Ou, I Solovei, IM Flyamer, J Dekker, J Kind, J Nuebler, J Wang, JH Sun, JM Santos-Pereira, Jonathan D Halverson, JR Dixon, JS Lucas, K Roessler, KD Taganov, KG Alavattam, KL Chan, L Hilbert, L Lu, LA Mirny, Lindsay M. Payer, M Benleulmi, M Chiang, M Ciubotaru, M Di Pierro, M Eltsov, M Kvaratskhelia, M Naughtin, M Pasi, MN Choudhary, N Gilbert, N Khanna, P Dong, PJ Flory, PM Pryciak, PS Schnable, R Collepardo-Guevara, R Craigie, R Raviram, R Schrijvers, R Stadhouders, R Stadhouders, R-s Nozawa, S Bianco, S Cheung, S Grob, S Zhou, SSP Rao, SSP Rao, T Cremer, T Nagano, T Sultana, T Wicker, TH Eickbush, V Aidinis, W-K Cho, X Gao, Y Shin, Y Zhang, YAG Fosado, Özgen Deniz   +105 more
core   +5 more sources

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Statistical learning quantifies transposable element-mediated cis-regulation

Genome Biology, 2023
Background Transposable elements (TEs) have colonized the genomes of most metazoans, and many TE-embedded sequences function as cis-regulatory elements (CREs) for genes involved in a wide range of biological processes from early embryogenesis to innate ...
Cyril Pulver, Delphine Grun, Julien Duc, Shaoline Sheppard, Evarist Planet, Alexandre Coudray, Raphaël de Fondeville, Julien Pontis, Didier Trono   +8 more
doaj   +1 more source