Results 191 to 200 of about 167,962 (232)

Alternative Splicing and CaV-Associated Channelopathies. [PDF]

Wiley Interdiscip Rev RNA
Munyao W, Rahman MM, Sabzanov SA, Chu EH, Wang R, Wang Z, Yu Y, Ruggiu M.   +7 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Early alternative splicing signatures and RBP networks in MASLD progression to cirrhosis. [PDF]

BMC Med Genomics
Chen L, Ma W, Hu Y, Qin Y, Zhao S, Yang J.   +5 more
europepmc   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

Conservation and Remodeling of Alternative Splicing Landscapes in the Evolution of <i>Panax</i>. [PDF]

Plants (Basel)
Zhao J, Meng X, Di P, Rong J, Xun H, Zheng S, Li J, Zhang J, Wang YP.   +8 more
europepmc   +1 more source

PUM2 knockdown regulates the expression and alternative splicing of genes associated with myocardial fibrosis in H9C2 cells. [PDF]

Exp Ther Med
Zhang Z, Zhou H, Adili D, Zhu W, Liu Y, Zhou W, Wang Z, Li J.   +7 more
europepmc   +1 more source

Hierarchical Complementary Enhanced Autoencoder Integrating Spatio‐Temporal Interaction Feature for Soft Sensor

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT To address the issues of neglecting the spatiotemporal correlations among process variables, low‐level features are vulnerable to noise interference, and the gradual loss of key information layer by layer during deep network training in traditional stacked autoencoder‐based soft‐sensor models, this paper proposes a hierarchical complementary ...
Xiaoping Guo, Jinghong Guo, Yuan Li
wiley   +1 more source