Results 191 to 200 of about 117,595 (294)

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
wiley   +1 more source

Bridge Nucleic Acid/DNA Gapmers as Potential Inhibitors of Bacterial Gene Expression by Multiple Antisense Mechanisms: An In Vitro Study. [PDF]

Molecules
Magaña AJ, Phan K, Lopez JA, Ramirez MS, Tolmasky ME.   +4 more
europepmc   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, Volume 73, Issue 5, Page 755-764, May 2026.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

A Semi-Automated Imaging Flow Cytometry Workflow for High-Throughput Quantification of Compound Internalization with IDEAS and FluoSta Software. [PDF]

Methods Protoc
Elfimov K, Gotfrid L, Nokhova A, Gashnikova M, Baboshko D, Totmenin A, Agaphonov A, Gashnikova N.   +7 more
europepmc   +1 more source

Ultra High‐Resolution Ultrasound Features of Carpal Tunnel Syndrome in Transthyretin Amyloidosis: A Cross‐Sectional Study

Muscle &Nerve, Volume 73, Issue 5, Page 867-874, May 2026.
ABSTRACT Introduction/Aims Transthyretin amyloidosis (ATTR), including hereditary (hATTR) and wild‐type (wtATTR), often presents initially as carpal tunnel syndrome (CTS), often preceding systemic symptoms by several years. Ultra high‐resolution ultrasound (UHRUS) offers detailed visualization of peripheral nerve morphology, but its application in ATTR‐
Rachana K. Gandhi Mehta, Nicholas Miller, Michael S. Cartwright, Rebecca Traub, Joni Evans   +4 more
wiley   +1 more source

Multi‐Omics Signatures of Organ Clocks in Biological Aging and Disease: A Conceptual Framework for Organ‐Specific Aging Clocks

Aging Cell, Volume 25, Issue 5, May 2026.
Organ‐specific aging clocks integrating genomics, epigenomics, transcriptomics, proteomics, and metabolomics offer a more accurate assessment of biological aging than single‐omics approaches. This review proposes a multi‐omics framework emphasizing tissue data, longitudinal study designs, and clinically meaningful training outcomes to advance the ...
Maria Vasileiou, Gabor Liposits, Bara Barakat, Nam P. Nguyen   +3 more
wiley   +1 more source

2'-Ribose-modified nucleotides: A strategy for reducing off-target effects of oligonucleotide drugs. [PDF]

Mol Ther Nucleic Acids
Zhang H, Liu Y, Ma J, Huang H, Zhang W, Xiu D, Ma T, Zhang M, Yu F, Song G.   +9 more
europepmc   +1 more source

STAT Signaling and Its Anti‐Apoptotic Effects in Dehydrated Xenopus laevis

Biology of the Cell, Volume 118, Issue 5, May 2026.
Dehydrated Xenopus laevis showed increased STAT3 and downstream anti‐apoptotic protein activation in the liver, whereas skeletal muscle saw increased STAT5 and downstream anti‐apoptotic protein activation, and decreased STAT1 activation. Collectively, these adaptations lead to decreased apoptosis, likely serving to protect against aestivation‐induced ...
Yulia Biggar, Akshay A. Kamath, Sarah A. Breedon, Kenneth B. Storey   +3 more
wiley   +1 more source

Beyond Variant Evolution: Structurally and Functionally Conserved Regions in the 5'UTR of SARS-CoV-2 as Resilient Antiviral Targets. [PDF]

Biomedicines
Masotti A.
europepmc   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source