Search

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Aortic aneurysm and dissection, the major problem linked to Marfan syndrome (MFS), lacks effective pharmacological treatment. Here, the authors show that the NO pathway is overactivated in MFS and that inhibition of guanylate cyclase and cGMP-dependent protein kinase reverts MFS aortopathy in mice.

Here, the authors report the results of a randomised trial assessing whether adding multiplex real-time PCR to conventional testing reduces antibiotic use in community-acquired pneumonia and observe no significant reduction in days of antibiotic therapy or in 30-day mortality.

The bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

Combining experimental and within-patient evolution analyses, the authors show that the widespread conjugative plasmid pOXA-48 promotes bacterial evolution through the transposition of plasmid-encoded insertion sequence IS1 elements.

The variability of plasmid fitness effects on wild-type bacterial hosts have been largely unknown until this study, which shows that plasmid persistence increases with bacterial diversity and becomes less dependent on conjugation. This could explain why plasmids remain so common in nature.

Highly pathogenic H5N1 avian influenza lineage 2.3.4.4b has spread through the Americas in birds since 2021 with frequent spillover into mammals. Here, the authors characterise the dissemination of the virus in Chile and find evidence of sustained transmission between mammals.

The authors describe a new crosstalk between a globally disseminated carbapenem resistance plasmid and clinical enterobacteria clones. This crosstalk provides a fitness advantage to the plasmid-carrying bacteria, promoting the spread of resistance.

As presented at the 2025 ASCO Annual Meeting: in cohort 3 of the phase 2 TUXEDO-3 trial, patients with leptomeningeal metastatic disease from any solid tumor were treated with the HER3-targeting antibody–drug conjugate patritumab deruxtecan and showed encouraging 3-month overall survival rates.

Randomised controlled experiments are the gold standard for scientific inference, but environmental and social scientists often rely on different study designs. Here the authors analyse the use of six common study designs in the fields of biodiversity conservation and social intervention, and quantify the biases in their estimates.

A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

The quest to understand the adverse health outcomes linked to endocrine-disrupting chemicals continued in 2025. Insights have been gained regarding their effects on metabolic health, their key characteristics, the mechanisms underlying their effects and the burden of disorders associated with exposure to these chemicals in terms of mortality and life-years lost.

In breast cancer the contribution of different genetic variants to disease heritability is complex and not fully understood. Here, the authors present a network-based analysis in 84,567 patients studying ~7.3 million variants, identifying gene modules associated with breast cancer survival.

Plant pathogens threaten food security and ecosystem health. Projections of potential fungal plant pathogens under different warming and land-use scenarios indicate that warming temperatures under climate change will lead to increases in the relative abundance of such pathogens in most soils worldwide.

The failure of chemotherapy in colorectal cancer is currently unclear. Here, the authors show that upon sub-lethal dose of chemotherapy wild-type p53 colorectal cancers acquire a quiescence-like phenotype and a YAP-dependent fetal-like intestinal stem cell state associated with a higher metastatic activity and poor prognosis in patients.

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

The authors study molecular vibrations in the near field of single antennas, showing that the vibrational signature in SEIRA spectra can be explained by field-enhanced molecular scattering. This opens pathways for the development of sensitive SEIRA sensors exploiting this concept.

Several mechanisms of resistance to T cell-engaging therapies have been described for solid tumors. Here, by using T cell bispecific antibodies and chimeric antigen receptors (CAR) T cells targeting HER2, the authors show that cancer cell intrinsic disruption of interferon-gamma signalling, including downregulation of JAK2, confers resistance to T-cell mediated cytotoxicity.

Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency. Here the authors perform single-cell omics analyses in CVID-discordant monozygotic twins and show epigenetic and transcriptional alterations associated with activation in memory B cells.

Genetic and Structural analysis of COVID patients cohort reveals a correlation between mitochondrial haplogroup and SARS-CoV-2 severity.

Analyses of genome and exome sequencing data identify rare coding and structural variants associated with atrial fibrillation and highlight genetic links between atrial fibrillation and cardiomyopathies.

Iron is shown to have a central role in senescence, both by triggering senescence and through its accumulation in senescent cells, which is driving the senescence-associated secretory phenotype and, in turn, promotes fibrogenesis.

Previous studies identified an association between the 2q35 locus and breast cancer. Here, the authors show that a SNP at 2q35, rs4442975, is associated with oestrogen receptor positive disease and suggest that this effect is mediated through the downregulation of a known breast cancer gene, IGFBP5.

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

López-Izquierdo et al. test the associations between prehospital blood cortisol levels and visual analogue scale (VAS) in pain assessment of patients with acute diseases treated by emergency medical services (EMS). Findings reveal that cortisol evaluations via the EMS are comparable to VAS scores and provide insight into pain status.

Population structure of the model plantArabidopsis thaliana is shaped by glacial refugia and recent admixture. Here the authors show that genetically distinct groups of A. thalianahave spread east-west across Europe since the most recent ice age, likely as a result of human activity.

The monkeypox outbreak in 2022 was of global concern. Here the authors present results from an observational study providing self-sampling testing to a high-risk population in a community center in Spain and diagnose monkeypox infection in asymptomatic individuals.

Using a single-nucleus multi-omics approach, a study jointly profiles the reorganization of the epigenome and the three-dimensional chromatin conformation during the development of the human hippocampus and prefrontal cortex.

Genetic factors that cause cardiac angiosarcoma are unknown. Calveteet al. show that a missense mutation in protection of telomeres1 (POT1) gene causes cardiac angiosarcoma by affecting the POT1 function and, consequently, telomere length and stability.

Multivesicular bodies (MVB) are endosomal compartments that can either fuse with the plasma membrane for the secretion of exosomes, or fuse with the lysosome and be degraded along with their contents. Here, the authors show that ISGylation of the MVB protein TSG101 impairs exosome secretion and acts as a regulator of MVB fate.

Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality.

Plants have adapted to grow at specific altitudes by regulating chlorophyll synthesis in response to ambient oxygen concentration, calibrated by altitude-dependent activity of GROUP VII ETHYLENE RESPONSE FACTOR.