Distinct NLGN3 variants linked to autism exhibit different effects on synapse morphology, vesicle dynamics, and sleep behavior in Drosophila models.
PLOS Genetics
Public Library of Science · Genomics & Bioinformatics · ISSN 1553-7390, 1553-7404
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Synthetic mouse L1 with reduced ORF adenosine content and specific sequence modifications shows significantly increased retrotransposition efficiency compared to native L1spa.
A machine learning model based on eight cfDNA methylation markers achieves an AUC of 0.978 in training and 0.938 in testing for non-invasive gastric cancer diagnosis.
Archaeal T4F machineries exhibit extensive diversity and structural innovation, with many organisms harboring multiple systems and a broad functional repertoire.
NK4, an NKX2-3/5/6 homolog, acts downstream of BMP signaling to pattern the three papillae in Ciona larvae, with loss or overexpression altering papilla formation.
Disruption of the AF-2 domain of BmERR in silkworms inhibits melanin metabolism gene expression and epidermal markings, revealing its essential regulatory role.
Single cell transcriptomics reveals greater cellular complexity in Müllerian duct differentiation in chicken embryos than previously understood, identifying distinct molecular signatures for duct compartments.
Depletion of phosphate restores Mycobacterium tuberculosis growth on lactate at acidic pH by preventing cytoplasmic acidification and proton motive force stress.
ZBED6 deficiency is linked to pathological cardiac hypertrophy through activation of the MEOX1-ERK1/2 pathway, impairing autophagy in cardiomyocytes.
Disruption of histone H3K37 impairs chromatin stability, hyperactivates TORC1, and causes cytotoxicity during TORC1 inhibition in yeast.
Heat stress induces GTBP-1 granule formation in the C. elegans germline, with strong association to P-bodies and dependence on RSKS-1.
Genetic Probabilistic Circuits (GPC) accurately reproduce population structure and linkage disequilibrium patterns in genetic variation data, outperforming other models in imputation accuracy.
Sod1 deficiency in yeast causes a 13-fold increase in single nucleotide variations, a 12-fold rise in loss of heterozygosity, and a 48-fold surge in aneuploidy, revealing its essential role in genome stability.
RTT109 is essential for maintaining PRC2-repressed chromatin in Neurospora crassa independently of H3K56 acetylation, with its catalytic activity being crucial.
Genetic architecture of basal heart rate in Drosophila melanogaster is significantly influenced by genotype-by-environment interactions, with distinct genes identified under standard and salt stress conditions.
A conserved CNBHD-CNBHD interface in KCNH channels restrains activation to regulate sleep, with mutations causing gain-of-function effects in C. elegans and humans.
Incorporating protein folding stability into Bayesian models predicts 28,866 VUSs as likely pathogenic in hereditary deafness, with 12,424 showing severe destabilization.
Genetic mediation by six immune markers, especially IL-6, explains 11 immune-psychiatric disease links, with IL-6 mediating 60% of the genetic connection between internalizing disorders and Crohn's disease.
Mutations in the FtsI pedestal domain of Pseudomonas aeruginosa alter septal peptidoglycan regulation and modulate β-lactam susceptibility, with some increasing hypersusceptibility.
Gradual and recurrent adaptation to protein malnutrition in zebrafish involves upregulation of intestinal endocytic components and immune genes over generations.
lin-15A acts as a transdifferentiation Licenser by antagonizing identity safeguarding mechanisms in Caenorhabditis elegans, enabling rectal-to-neuronal cell conversion.
Drosophila Mettl16 mutants are viable but show multiple developmental and behavioral defects, including sterility and gametogenesis issues, despite limited impact on global protein synthesis.
UniLasso achieves sparse, interpretable polygenic risk scores with performance comparable to standard Lasso in UK Biobank data.
METTL1-mediated m7G modification of HOXC13 mRNA is essential for proper hair follicle cycling and regeneration in keratinocytes.
Deletion of recA, uvrA, uvrB, mfd, uvrD, recB, and recC genes reveals complex epistatic interactions in fluoroquinolone persister recovery in Escherichia coli.
GALT-null fetal rats develop elevated galactose metabolites and growth delay in utero, but maternal heterozygosity can significantly reduce metabolite levels and rescue growth.
Bacterial chromosomal gene positioning is likely shaped by selection on both mean and growth-dependent expression, with significant gradients observed in multiple datasets.
Shared genetic susceptibility across 16 cancers is limited at the genome-wide level but reveals structured regional and polygenic convergence, with 82 shared regions identified.
Xrp1 contributes to genome integrity in Drosophila through both p53-dependent DNA damage response and p53-independent cell competition mechanisms, especially after irradiation.
Arginine kinase 1 is essential for flight muscle development and function in Drosophila, with its depletion causing severe muscle defects and animal lethality.
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