217 papers
This study identifies a novel recessive short-QT arrhythmogenic cardiomyopathy caused by biallelic POPDC1 truncation, which disrupts the Ankyrin-G scaffold to create a lethal arrhythmogenic substrate characterized by a triad of bradyarrhythmia, paradoxical QT shortening, and progressive cardiomyopathy.
This study validates commonly used tissue-specific RNAi systems in *C. elegans* by revealing temperature-dependent variations in RNAi sensitivity across different mutant strains and demonstrates that the polyubiquitin gene UBQ-1 plays a convergent role in regulating vitellogenin metabolism and lifespan beyond its traditional function in proteostasis.
This study demonstrates that the chromatin remodeling complex PRC2 is a conserved critical regulator that safeguards alveolar epithelial type 2 (AT2) cell fate by preventing their aberrant transition into alveolar-basal intermediate and basal-like states, thereby maintaining lung homeostasis and preventing emphysematous remodeling.
This study identifies a specific 29-bp degenerate palindromic motif, the Sequence For Elimination (SFE), as both necessary and sufficient to trigger programmed DNA elimination in *Oscheius tipulae* by inducing double-strand breaks and facilitating de novo telomere healing, thereby revealing the molecular mechanism behind this developmental genome rearrangement.
This study characterizes a novel mouse model harboring a Tuba4aQ176P mutation that recapitulates key features of human spastic ataxia type 11 and congenital myopathy type 26, providing a specific tool to investigate cell-type selective neurodegeneration and myopathy without motor neuron loss.
This study employs massively parallel reporter assays, CRISPR interference, and saturation mutagenesis to map cis-regulatory elements and identify the functional impact of genetic variants on the MAPT locus, revealing novel neuron-specific regulatory mechanisms relevant to tauopathies.
By integrating genomic and transcriptomic data with explainable artificial intelligence, this study successfully identified key genes and gene-gene interactions governing flowering time and biomass plasticity in switchgrass across diverse environments, demonstrating that interpretable machine learning models can transform trait prediction into actionable mechanistic hypotheses for crop improvement.
This study demonstrates that while the essential orphan gene *goddard* retains a conserved core structure and ancestral function across the *Drosophila* genus, its orthologs exhibit lineage-specific variations in sequence, subcellular localization, and functional capacity, where intrinsic protein qualities like disordered region motifs and structural stability determine their ability to rescue fertility in *D. melanogaster*.
This study demonstrates that simultaneous restriction cutting and ligation of double-stranded DNA using BsaI-HFv2 and T4 DNA ligase under optimized conditions achieves circularization efficiencies more than threefold higher than the classical Jacobson-Stockmayer theory predicts, revealing a biologically derived exception to this long-standing physical model.
This study demonstrates that aging-induced circadian dysregulation in the kidneys dynamically alters senescence and inflammatory pathways in a sex- and time-of-day dependent manner, revealing that senescent phenotypes are not static but oscillate and can be identified by disrupted circadian gene relationships.
This study demonstrates that in *C. elegans* germline cells, the stress granule protein GTBP-1 (G3BP1 homolog) forms perinuclear condensates colocalizing with P-bodies in response to heat stress, a process regulated by specific protein domains and factors like LAF-1, SMO-1, and RSKS-1 to safeguard reproductive homeostasis.
This study demonstrates that a single-dose, liver-specific AAV8 vector delivering both PCCA and PCCB genes effectively and safely restores metabolic function in a clinically relevant mouse model of propionic acidemia, offering a promising dual-gene therapeutic strategy for both disease subtypes.
This study analyzes whole-genome sequence data from 500,000 UK Biobank participants to reveal how pentanucleotide contexts and mutational signatures influence variant frequencies and to identify unexplained, chromosome-specific DNA strand asymmetries that suggest the existence of currently unknown strand-specific mechanisms affecting mutation and selection.
Using a reaction-diffusion model, this study identifies that the most efficient spatial release strategy for confining threshold-dependent gene drives and Wolbachia dynamically shifts from broad "everywhere" releases to "multiple-ring" and finally focused "center" patterns over time, significantly outperforming simple uniform releases.
This study reports the first discovery of a toxin-antidote selfish genetic system in vertebrates, where the mouse HSR locus biases its inheritance by depositing a DNA-damaging toxin (SP100) that kills wild-type embryos while sparing those that also inherit the antidote (SP110).
This study identifies a three-miRNA signature (hsa-miR-30e-5p, hsa-miR-103a-3p, and hsa-miR-200b-3p) in plasma-derived extracellular vesicles that distinguishes schizophrenia patients from healthy controls, with specific miRNAs showing associations with neurogenesis, working memory, and white matter integrity.
This study reveals that in *Drosophila*, Myc-driven Coenzyme A biosynthesis in the kidney (Malpighian tubules) utilizes dietary Vitamin B5 to generate a systemic signal that activates the gut's mevalonate-isoprenoid pathway, thereby promoting intestinal stem cell proliferation and tumor growth, a mechanism conserved in human cancers.
This study reveals that the ILF2/3 complex is essential for primate-specific cell fate determination by binding to Alu elements to prevent ADAR1-mediated hyperediting, thereby preserving the integrity of chromatin regulator transcripts and enabling successful lineage commitment.
This paper proposes and validates a quantitative model demonstrating that synergistic selection on a multi-locus genotype formed by the admixture of Western Hunter-Gatherers and Neolithic farmers, within the specific eco-evolutionary niche of the Basque region, drove the co-amplification of the RhD-negative allele and explains its distinct frequency peaks in both Ibero-Berber populations.
This study employs an integrative taxonomic approach to resurrect *Hypanus brevis* as a distinct species from the Eastern South Pacific, separating it from the Eastern North Pacific *H. dipterurus* based on genetic divergence and historical descriptions, while highlighting concerns over a severe genetic bottleneck in the Peruvian population that necessitates urgent conservation measures.