Results 171 to 180 of about 13,467,690 (274)

Considering microRNAs as measures of extrinsic domains of risk in the context of underlying genetic characteristics: type 2 diabetes as an exemplar. [PDF]

Front Genet
Stroebel BM, Jimenez A, Lindquist KJ, Torgerson D, Longoria KD, Ignacio-Espinoza JC, Flowers E.   +6 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Similar degenerative patterns of olfactory receptor genes in the giant panda and marine carnivores. [PDF]

iScience
Kang L, Chen J, Hong M, Wei W, Xiang Z, Zhang Z.   +5 more
europepmc   +1 more source

Centrum Semiovale Perivascular Spaces Predict First Hemorrhagic Lesion in Asymptomatic Amyloid‐Positive Individuals

Annals of Neurology, EarlyView.
Objective Identification of cerebral amyloid angiopathy (CAA) before its hemorrhagic manifestations remains limited. We aimed to determine whether severe enlarged perivascular spaces in the centrum semiovale (EPVS‐CSO) identify a prehemorrhagic stage of sporadic CAA by predicting the first appearance of CAA‐related hemorrhagic lesions or incident ...
Baris Alten, Elif Gokcal, Reisa A. Sperling, Zahra Shirzadi, Jasmeer P. Chhatwal, M. Edip Gurol, Scott E. Kasner, Steven M. Greenberg, Brett L. Cucchiara   +8 more
wiley   +1 more source

Causal discovery and inference in COVID-19: A multiscale longitudinal analysis using mixtures of DAGs. [PDF]

PLoS One
Abdollahi K, Rezaei Ghahroodi Z, Mansourian M.   +2 more
europepmc   +1 more source

Rate and Shape of Functional Decline in Amyotrophic Lateral Sclerosis Identify Clinically Distinct Amyotrophic Lateral Sclerosis Phenotypes

Annals of Neurology, EarlyView.
Objective The ALS Functional Rating Scale–Revised decline rate compresses trajectory shape into a single number, potentially missing distinct phenotypes. We tested whether shape identifies phenotypes that rate does not distinguish, and whether post‐hoc analysis recovers a hidden ultrarapid subgroup. Methods From the Piemonte and Valle d'Aosta register (
Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Elisabetta Zucchi, Giulia Gianferrari, Ilaria Martinelli, Gabriele Mora, Sara Cabras, Francesca Palumbo, Enrico Matteoni, Giorgio Pellegrino, Emilio Minerva, Daniela Pascariu, Stefano Callegaro, Fabrizio D'Ovidio, Rosario Vasta, Letizia Mazzini, Fabiola De Marchi, Jessica Mandrioli, Adriano Chiò   +20 more
wiley   +1 more source

Elevated mutation in haploid yeast driven by error-prone Rev1 polymerase. [PDF]

Genetics
Fredette-Roman J, Smith DR, Omari SB, Sharp NP.   +3 more
europepmc   +1 more source

Comparative Analysis of Poly(Ethylene Glycol) (PEG) and Poly(2‐Ethyl‐2‐Oxazoline) (PEtOx) for Organic Solvent‐Free Lipid Nanoparticle Formulations

Angewandte Chemie International Edition, EarlyView.
Organic solvent‐free lipid nanoparticles featuring PEtOx‐based stealth lipids enable efficient mRNA and CRISPR‐Cas9 delivery while exhibiting markedly improved biocompatibility compared with PEG‐based analogues. Their successful ex vivo and in vivo performance, combined with data‐driven formulation optimization, establishes a versatile platform that ...
Michael Streiber, Caroline T. Holick, Lucas Gath, Ekaterina Tsarenko, Vivien Bachmann, Stavroula Litsiou, Lukas Harder, Laura J. Rosenberger, Aleksandar Rusevski, Julian Kimmig, Stephan Culemann, Christian Franke, Claudia Waskow, Stephanie Hoeppener, Stephanie Schubert, Matthias Bros, Oliver Werz, Ivo Nischang, Michael Bauer, Adrian T. Press, Ulrich S. Schubert, Anja Traeger   +21 more
wiley   +1 more source

A large phylogenetic tree for euphyllophytes

Applications in Plant Sciences, EarlyView.
Abstract Premise Molecular datasets for estimating phylogenetic trees increasingly include more species and gene regions, and trees are often constructed using backbone phylogenies, subtrees, and other techniques to address the challenges of large dataset size.
Tom Carruthers, William J. Baker, Wolf L. Eiserhardt, Félix Forest, Alexandre R. Zuntini, Jared T. Miller, Stephen A. Smith   +6 more
wiley   +1 more source

Unraveling Cell of Origin in Breast Cancer via Joint Profiling of Whole Genome and Transcriptome in Individual Cells. [PDF]

Genomics Proteomics Bioinformatics
He Y, Gao R.
europepmc   +1 more source