Results 171 to 180 of about 5,044 (241)

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

Comparison of fish biomass and fish carbon content associated with reef sites at the Rio Grande Valley artificial reef in the Gulf of Mexico. [PDF]

PLoS One
White AK, Rahman MS, Kline RJ.
europepmc   +1 more source

Comparison of Receptor‐Mediated Endocytosis and Its Application to Enhance DNA Transfection by TFAMoplex

Advanced NanoBiomed Research, EarlyView.
We developed an assay to distinguish cellular binding from internalization. Compatible with microscopy and high‐throughput screening, the method identifies ligand‐mediated uptake. Applying top candidates to a protein‐based DNA carrier enhanced transfection efficiency, providing a rational strategy to improve non‐viral gene delivery systems.
David Scherer, Steffen Honrath, Jonas Kurmann, Alexander Klipp, Finn Brigger, Jean‐Christophe Leroux   +5 more
wiley   +1 more source

Commemorating the Launch of the Section "Marine Toxins". [PDF]

Mar Drugs
Turner A, Katikou P.
europepmc   +1 more source

A Case of Kappa Light-Chain Multiple Myeloma With Auer Rod-Like Inclusions and Snapper-Schneid Granules. [PDF]

Cureus
Uzay A, Ozkayar O, Gokmen IB, Boynukara C, Okuturlar Y.   +4 more
europepmc   +1 more source

Use of Citizen Science to Determine Prey Partitioning Between Two Coastal Raptors. [PDF]

Ecol Evol
Biggs L, Baxter GS, Debus SJS, Finch N, Riggs A, Houweling H, Appleby M, Murray PJ.   +7 more
europepmc   +1 more source

Influence of Fat Oil Binding Capacity on Shelf‐Life and Consumer Acceptance of a Chocolate‐Based Model System

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT In chocolate‐coated products, oil migration can lead to chocolate softening and discoloration, filling hardening, and reduced consumer acceptance. This study examined three fats (soy‐, palm‐, and palm‐kernel (PK) based), crystallized under different conditions (cooling rate and high intensity ultrasound (HIU)) with differing oil binding ...
Audrey Lidgard, Farnaz Maleky, Silvana Martini   +2 more
wiley   +1 more source

RAD-Seq-derived SNPs reveal no local population structure in the commercially important deep-sea queen snapper (<i>Etelis oculatus</i>) in Puerto Rico. [PDF]

Mar Life Sci Technol
González-García MDP, García-Sais JR, García-Moliner G, Schizas NV.   +3 more
europepmc   +1 more source

MicroRNA‐Seq Analysis Reveals a Critical Role for miR‐222 in Bovine Intramuscular Adipogenesis via the DDIT4/mTORC1 Axis

Animal Research and One Health, EarlyView.
Schematic diagram illustrating how miR‐222 promotes bovine intramuscular adipogenesis by targeting DDIT4 to activate the mTORC1 signaling pathway. ABSTRACT Intramuscular fat (IMF) is a key determinant of beef quality, particularly with respect to tenderness, flavor, and juiciness.
Jianbing Tan, Liang Qiu, Zhenghai Zhou, Zhipeng Zhang, Nanfei Wang, Jiangang Hao, Linsen Zan, Wucai Yang   +7 more
wiley   +1 more source

Metabolomic Profiling of Fecal Samples Reveals Distinct Signatures Associated with Disease Phenotypes and Locations in Crohn's Disease. [PDF]

Dig Dis Sci
Tan T, Vincent M, Jain U, Deepak P, SPARC I. B. D. Investigators.   +4 more
europepmc   +1 more source