Results 311 to 320 of about 304,363 (385)

Determination of trunk neural crest cell fate and susceptibility to splicing perturbation by the DLC1-SF3B1-PHF5A splicing complex. [PDF]

Nat Commun
Zheng Z, Guo S, Tam HY, Wang J, Rao Y, Hui MN, Cheung MPL, Leung AWL, Wong KKW, Sharma R, Liu JA, Cheung M.   +11 more
europepmc   +1 more source

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

Comprehensive analysis of Saccharomyces cerevisiae intron structures in vivo. [PDF]

Nat Struct Mol Biol
Rangan R, Huang R, Hunter O, Pham P, Ares M, Das R.   +5 more
europepmc   +1 more source

Compound Heterozygous Structural Variants in Cases with Unsolved PRKN‐Associated Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Biallelic mutations in the PRKN gene are a common cause of early‐onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.
Agata Fant, Sara Trova, Edoardo Monfrini, Gaia Treves, Francesco Musacchia, Fabio Landuzzi, Paola Mandich, Antonio Amoroso, Remo Sanges, Luca Pandolfini, Francesco Cavallieri, Franco Valzania, Valentina Fioravanti, Giulia Di Rauso, Gloria Brescia, Enza Maria Valente, Valeria Tiranti, Luigi Michele Romito, Chiara Reale, Barbara Garavaglia, Antonio Emanuele Elia, Andrea Cavalli, Alessio Di Fonzo, Manuela Vecchi, Stefano Gustincich   +24 more
wiley   +1 more source

ZRSR2 loss causes aberrant splicing in JAK2^V617F-driven myeloproliferative neoplasm but is not sufficient to drive disease progression. [PDF]

Hemasphere
Zhang R, Straube J, Janardhanan Y, Haldar R, Cooper L, Hayes N, Laurore C, Kim CJ, Luskin MR, Lindsley RC, Stahl M, Mullally A, Marneth AE, Bywater M, Lane SW.   +14 more
europepmc   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Complete mitochondrial genome of the ectomycorrhizal fungus <i>Suillus collinitus</i> (Suillaceae, Boletales). [PDF]

Mitochondrial DNA B Resour
Liu WX, Zhang S, Zhang YJ.
europepmc   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Expression of Concern on 'NicOPURE: nickless RNA circularization and one-step purification with engineered group II introns and cyclizing UTRs'. [PDF]

Nucleic Acids Res
europepmc   +1 more source