Results 201 to 210 of about 300,369 (293)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Low Zoonotic Pathogen Burden in Free-Roaming Cats Revealed by 18S rRNA Metabarcoding: A Baseline Study from an Insular Natura 2000 Site in Spain. [PDF]

Animals (Basel)
Travieso-Aja MDM, Henríquez-Hernández LA, Hernández-Álvarez E, Quinteiro-Vázquez J, González-Henríquez NE, Cecchetti M, Luzardo OP.   +6 more
europepmc   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Ribosomal protein Rps29/uS14 contributes to 18S rRNA maturation and its abundance regulates osmotic stress response in S. cerevisiae. [PDF]

Nucleic Acids Res
Zadali R, Tomecki R, Topf U.
europepmc   +1 more source

Population Dynamics of <i>Plasmodium vivax</i> in Mexico Determined by CSP, Pvs25, and SSU 18S rRNA S-Type Polymorphism Analyses. [PDF]

Microorganisms
González-Cerón L, Gómez-Pérez DJ, Santillán-Valenzuela F, Ovilla-Muñoz M, Guzmán-Bracho C, Pech-May A, Amores GR, Montoya-Pérez A, Villarreal-Treviño C.   +8 more
europepmc   +1 more source

METTL5-mediated 18S rRNA m⁶A modification enhances ribosome assembly and ABA response in <i>Arabidopsis</i>. [PDF]

Imeta
Li P, Zhang Y, Zhang S, Ma J, Fan S, Shen L.   +5 more
europepmc   +1 more source

Dietary Mannan‐Rich Fractions Attenuate Weaning Stress in Piglets via Modulating Gut Microbiota and TLR5/NF‐κB Signaling

Animal Research and One Health, EarlyView.
This study aimed to investigate the potential of a mannan‐rich fraction (MRF) as a dietary intervention to alleviate weaning stress in piglets. Our results revealed that MRF could alleviate weaning stress by modulating the gut microbiota and the TLR5/NF‐κB signaling pathway, offering a novel and sustainable alternative to antibiotic use in swine ...
Yutong Lu, Yiwei Sun, Kun Cai, Pingli He, Gang Lin, Zengkai Qi, Hu Liu, Junshu Yan, Ning Ma   +8 more
wiley   +1 more source

18S rRNA Metagenomic Analysis of Nodular Gill Disease in Swiss Rainbow Trout (Oncorhynchus mykiss). [PDF]

J Fish Dis
Wynne JW, English CJ, Vannetti SM, Rigby M, Quezada-Rodriguez PR, Knüsel R, Huynh C, Schmidt-Posthaus H.   +7 more
europepmc   +1 more source

Comparison of potential diatom 'barcode' genes (the 18S rRNA gene and ITS, COI, rbcL) and their effectiveness in discriminating and determining species taxonomy in the Bacillariophyta.

International Journal of Systematic and Evolutionary Microbiology, 2015
L. Guo, Z. Sui, Shu Zhang, Yuanyuan Ren, Yuan Liu   +4 more
semanticscholar   +1 more source

Heat Stress and Gut Microbiome Dynamics in Poultry: Interplay, Consequences, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts gut microbial balance in poultry, impairing nutrient absorption and immunity. This review outlines the interplay between thermal stress and microbiome dynamics and discusses integrative mitigation strategies, probiotics, phytogenics, cooling systems, and genetic adaptation to enhance poultry resilience.
O. E. Oke, A. I. Oni, O. A. Akosile, K. M. Oliyide, C. A. Ishola, M. O. Logunleko, O. A. Jimoh, C. P. Njoku, L. O. Fasasi, V. A. Uyanga   +9 more
wiley   +1 more source