Discover, rate, and discuss biology preprints.

The paper analyzes TP53 mutation patterns across 27 cancer types using data from 10,967 tumor samples, finding missense mutations are most common and mutation burdens vary by cancer type.

This study shows that Tep3 limits macrophage attachment to damaged and transformed epithelia by inhibiting MMP1 proteolytic activity, reducing BM DAMP production and promoting tumor progression.

The paper presents a Yersinia pestis genome from a Bronze Age sheep, showing it belongs to a lineage previously only found in ancient humans and suggests transmission via livestock.

The paper identifies Neurexin-2 downregulation in a mouse model of PMM2-CDG and shows it can be reversed by AAV9-PMM2 gene treatment.

This study identifies shared genetic loci between psychiatric disorders and cortical brain structure using genome-wide association data from over 700,000 individuals.

This study identifies rapunzel5 as essential for hematopoietic stem and progenitor cell development in zebrafish, affecting erythroid and myeloid differentiation.

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

This study creates a zebrafish adamtsl4 knockout model that recapitulates key human ADAMTSL4-related disease features, including ocular and skeletal abnormalities, and shows its role in ECM organization and development.

The paper uses synthetic enhancer engineering in mESCs to show that enhancer clusters increase transcriptionally productive enhancer-gene contacts through enhanced RNA Polymerase II pause release.

This study identifies non-vocal motor deficits in a Gnptab transgenic mouse model, linking lysosomal dysfunction to stuttering-related motor impairments.

The paper shows JNK and JAK/STAT signaling cooperate to activate damage-responsive enhancers, enabling spatially regulated gene expression for tissue regeneration in Drosophila.

This study uses a zebrafish model to identify genetic dependencies in melanocyte and melanoma development, revealing that gene loss can paradoxically promote aggressive phenotypes.

The paper develops SVrefiner to refine structural variations, enhancing heritability estimates and risk prediction by integrating refined SVs with SNPs and other variants.

The paper shows neuronal small RNAs protect germline integrity and prevent heat-induced sterility in lab Caenorhabditis elegans by modulating thermotolerance and countering domestication effects.

This study shows that rRNA intermediates influence nucleolar structure in C. elegans by altering protein distribution and causing architectural changes.

This study shows that SRS2 in Arabidopsis has dual roles in meiotic recombination, both inhibiting and promoting crossover formation.

This study evaluates the effects of Allopurinol and Losartan on cardiovascular phenotypes in a mouse model of Williams-Beuren syndrome, finding that Allopurinol reduces blood pressure and improves cardiac pathology.

The paper uses targeted NGS to identify functional SNPs and pathways associated with IBD in GSDs, revealing genetic markers for treatment response.

This study shows that redox imbalance in Drosophila models of Gaucher and Parkinson's disease leads to renal dysfunction, which contributes to systemic decline and neurodegeneration.