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Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.
J Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFInsight into the Specific Adsorption of Cu(II) by a Zinc-Based Metal-Organic Framework Mediated via a Proton-Exchange Mechanism.
Langmuir
March 2025
China Guangxi Key Laboratory of Petrochemical Resource Processing and Process Intensification Technology, School of Chemistry and Chemical Engineering, School of Resources, Environment and Materials, Guangxi University, Nanning 530004, China.
In the context of scarce metal resources, the one-step separation and recovery of high-value copper metal ions from secondary resources is of significant importance and presents substantial challenges. This study identified a Zn-based triazole MOF (Zn(tr)(OAc)) with accessible and noncoordinated terminal hydroxyl groups within its framework. The Zn(tr)(OAc) surpasses most currently reported Cu-specific MOF adsorbents regarding adsorption capacity and Cu selectivity.
View Article and Find Full Text PDFDeep-Learning-Assisted Understanding of the Self-Assembly of Miktoarm Star Block Copolymers.
ACS Nano
March 2025
School of Chemical Science and Engineering, Tongji University, 1239 Siping Road, Shanghai 200092, China.
The self-assemblies of topological complex block copolymers, especially the AB type miktoarm star ones, are fascinating topics in the soft matter field, which represent typical self-assembly behaviors analogous to those of biological membranes. However, their diverse topological asymmetries and versatile spontaneous curvatures result in rather complex phase separations that deviate significantly from the common mechanisms. Thus, numerous trial-and-error experiments with tremendous parameter space and intricate relationships are needed to study their assemblies.
View Article and Find Full Text PDFUnraveling the mechanisms of benzimidazole resistance in hookworms: A molecular docking and dynamics study.
J Genet Eng Biotechnol
March 2025
Department of Tropical Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand; WHO Collaborating Center for Research and Control of Opisthorchiasis (Southeast Asian Liver Fluke Disease), Tropical Disease Research Center, Khon Kaen University, Khon Kaen 40002, Thailand. Electronic address:
Background: Benzimidazole resistance is an emerging challenge among parasitic helminths. It is caused by single nucleotide polymorphisms (SNPs) in specific loci in helminths' β-tubulin genes. Field studies and laboratory investigations reported resistance-associated SNPs in 4 codon locations with 7 allelic variations among hookworms.
View Article and Find Full Text PDFTesting AuxInYeast Synthetic Biology Strains via Fluorescence Flow Cytometry.
Cold Spring Harb Protoc
March 2025
Department of Ecology, University of Chicago, Chicago, Illinois 60637, USA.
Understanding how the auxin hormone signaling pathway components come together to orchestrate cellular responses is key to engineering the growth and development of maize. Although a variety of techniques exist to measure auxin activities in plants, many are time- and resource-intensive or do not easily allow for high-throughput quantitative measurement of component libraries. The AuxInYeast system is a synthetic biology tool that facilitates complex biochemical analysis of the auxin hormone signaling pathway from essentially any plant.
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