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Biallelic variants in RNU4-2 cause a recessive neurodevelopmental disorder that is phenotypically and molecularly distinct from dominant ReNU syndrome and associated with reduced RNU4-2 transcript levels, consistent with a loss-of-function mechanism.

Most H₂ used in the chemical industry is derived from fossil fuels. Now it has been shown that coupling native microbial H₂ pathways with engineered alkene biosynthesis and membrane-bound Pd catalysis enables biocompatible hydrogenation of metabolic intermediates in living bacteria. This hybrid chemo-microbial platform supports the carbon-negative synthesis of industrial chemicals from waste-derived feedstocks.

A large-scale study on the replicability of claims from social and behavioural science journals reports that about half of the results replicate in the same patterns as the original study.

A Hemostatic Tough Adhesive (HTA) is developed and evaluated, achieving hemostasis in both liver and spleen injuries within an in vivo preclinical porcine model.

During chemotherapy Endonuclease G triggers chromosomal breakage and leukemogenic rearrangements in hematopoietic cells. Here the authors identify a peptide derived from Ku80 antagonizing this mutagenic effect through specific Endonuclease G inhibition.

Global Burden of Disease analysis found that in 2023, suboptimal diet was estimated to be responsible for 4 million deaths and 97 million morbidity burdens from ischemic heart disease.

The rapid evolution of SARS-CoV-2 challenges antibody therapeutics, but glycan-masked antigens enable isolation of class 3 monoclonal antibodies that potently neutralize diverse Omicron variants and reveal cross-reactive epitopes.

In a phase 1 basket trial, the small interfering RNA zodasiran, targeting ANGPTL3, lowered triglycerides in patients with severe hypertriglyceridemia and lowered both triglycerides and low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolemia.

Previous studies suggested that glycogen metabolism played a role in beiging of subcutaneous adipocytes. This work identifies a β-adrenergic–driven transcriptional program that promotes glycogen synthesis and turnover during thermogenic activation of adipocytes. PGC1α and estrogen-related receptors (ERRs) cooperatively sustain this program by regulating chromatin accessibility and gene expression.

Analyses of epidemiological, clinical and molecular data from a prospective cohort of 3,100 patients with esophageal carcinoma suggest intestinal metaplasia as a single precancer pathway preceding the disease.

The total sediment flux from land to the ocean across the pan-Arctic has risen by 15% since 1980, driven by greater river discharge, intensified thermokarst disturbances and wildfire activity, according to machine learning and satellite-based reconstructions of suspended sediment dynamics in 4,331 river reaches.

The mechanisms driving reversible dedifferentiation events towards a drug-tolerant persister (DTP) state remain to be explored. Here, multi-omics, information-theoretic approaches and dynamic systems modelling highlight the role of the oxidative-stress–mediated NF-κB/RelA axis in driving the transition towards DTP across multiple cancer types.

During model distillation, large language models can subtly transmit traits unrelated to the training data.

Cryo-electron microscopy structures of three large ornate natural bacterial RNA molecules reveal their quaternary structures and intra- and intermolecular interactions that stabilize them.

Transmission of Plasmodium falciparum relies on the development of gametocytes, which undergo extensive cellular remodelling. Here, the authors demonstrate that the PfGID E3 ubiquitin ligase complex affects gametocyte development by regulating key proteins, producing defective cells that cannot infect mosquitoes.

Two distinct types of atomic insulator can be distinguished by the distribution of charges within the unit cell. Now, real-space imaging of WSe₂ shows that it is a so-called obstructed insulator.

An 18-year high-resolution radio image dataset of Cygnus X-1 has revealed that its radio jets are bent by the stellar wind. Modelling of jet–wind interactions strongly supports the standard assumptions of an accreting black hole in cosmological simulations.

Over five years, implementation of the NHS England Lung Cancer Screening Programme achieved high early-stage detection rates and demonstrated that the programme is both feasible and scalable for reaching high-risk and underserved populations.

The APOE-ε4 allele is the strongest genetic risk factor for late-onset Alzheimer’s disease, but it is not deterministic. Here, the authors show that common genetic variation changes how APOE-ε4 influences cognition.

A dispersive sensing technique, termed the radiofrequency electron cascade, can perform singlet-triplet readout of two exchange-coupled electron spins in a natural silicon planar metal–oxide–semiconductor quantum-dot array.

From 2014–2017, marine heatwaves caused global mass coral bleaching, where the corals lose their symbiotic algae. The authors find, this event exceeded the severity of all prior global bleaching events in recorded history, with approximately half the world’s reefs bleaching and 15% experiencing substantial mortality.

Here the authors analyse genetic data for over 400,000 British and Irish people, showing that the frequency of the major genetic risk factor for haemochromatosis varies from a low of 1/212 in Southern England to 1/62-1/54 in Outer Hebrideans and Northwest Irish. Clinically diagnosed haemochromatosis varies 11- fold in frequency across England, emphasising the uneven risk landscape.

The CMS experiment at CERN reports one of the highest-precision measurements of the W boson mass, finding it in line with standard model predictions and at odds with recent anomalous measurements.

Operando birefringence microscopy measurements of the stresses around growing dendrites in solid electrolytes show that stresses decrease as current densities increase, revealing a linkage between electrochemical and mechanical stability that informs the design of solid-state batteries.

A compact, low-mass quasar lens at z ≈ 1 has a Milky Way-like stellar initial mass function, implying slow or disrupted growth rather than the rapid, unaltered bulge formation predicted by the classical two-phase scenario.

This analysis of coral reef fish community structure reveals major differences in the energetic potential of planktivorous assemblages between Indo-Pacific and Caribbean coral reefs. Indo-Pacific reefs support greater planktivorous fish biomass and productivity, largely due to the contribution of species that feed on gelatinous plankton.

Decreased brain volumes and increased NfL levels can be observed earlier than disease diagnosis in short-tandem-repeat-associated neurological diseases.

In a randomized trial, treatment of patients with heart failure with an antibody designed to activate the guanylate cyclase receptor NPR1 led to an unexpected increase in NT-proBNP levels and worsening heart failure events compared with the control, prompting termination of the trial.

Intense lasers enable scientists to study the behaviour of matter under extreme pressures, but obtaining information about its atomic structure is challenging. In this work, Suggit et al. demonstrate the use of white-light X-ray diffraction to probe the structure of laser-shocked copper on nanosecond timescales.

In this population-based cohort study, John et al. evaluated the long-term impact of childhood ADHD traits on adult psychological distress and identified societal exclusion as an indirect pathway linking early ADHD traits to poorer midlife mental health.

Idiopathic pulmonary fibrosis is a fatal human disease driven by the accumulation of apoptosis-resistant fibroblasts that impede homeostatic lung repair. Here, the authors show that elevated BCL-2 expression in fibroblasts drives their survival and senescence prolonging fibrosis in mice, while BCL-2 inhibition reverses persistent fibrosis.

Both environmental factors and genetic factors influence human immunity. Albert and colleagues leverage data from the Milieu Intérieur Consortium to comprehensively describe the effects of lifestyle, environment and genetics on human innate and adaptive immunity.

Polymer thin films that emit and absorb circularly polarised light are promising in achieving important technological advances, but the origin of the large chiroptical effects in such films has remained elusive. Here the authors demonstrate that in non-aligned polymer thin films, large chiroptical effects are caused by magneto-electric coupling, not structural chirality as previously assumed.

Molecular glue degraders have consistently been discovered retrospectively, despite their increasing importance. Herein, a high-throughput approach is described that modifies existing ligands into molecular glue degraders.

Climate and land-use change are transforming biodiversity, yet national futures remain uncertain. The study projects growing extinction debts, but suggests that sustainable low-emission pathways can limit the worst impacts on British biodiversity.

Robustness checks and reproduction of analyses with existing and updated data based on 110 articles in economics and political science journals with data and code-sharing requirements found high levels of robustness and reproducibility and determined that robustness was not dependent on author characteristics or data availability.

Results of the phase 2 POLAR trial show that biomarker-guided treatment in patients with metastatic pancreatic cancer based on homologous repair deficiency leads to encouraging clinical response rates in immune cell-infiltrated tumors.

JWST’s COSMOS-Web survey is used to create an ultra-high-detail dark matter map, revealing hidden filaments, clusters and distant structures. By tracing features out to z = 2, this map shows how dark and luminous matter build the cosmic web across cosmic time.

Here, the authors present aDNA from 49 grape pips spanning the Bronze Age to Medieval period in France and surrounding areas. They find evidence of long-distance exchange of domestic varieties through vegetative clones and one Medieval sample that is nearly identical to modern Pinot Noir.

The Zwicky Transient Facility has observed a transitioning white dwarf with two faces, with one side of its atmosphere dominated by hydrogen and the other by helium.

The famous nebula Barnard 68 has been used as a giant cosmic-ray detector: cosmic-ray-excited vibrational H₂ emission has been observed by JWST, giving a direct measurement of the CR ionization rate.

Longitudinal metatranscriptomics in a prospective cohort of 1,164 adults hospitalized for COVID-19 reveals that azithromycin offered no apparent anti-inflammatory benefit but enriched the respiratory microbiome with potential pathogens and antimicrobial resistance genes.

The transformations for aragonite precursors in coral are not fully understood but have implications in bio, biogenic and geological mineralization. Here, the authors use high-resolution mapping and observe exponential decay from the edge of four precursors to coral aragonite skeleton in Stylophora pistillata.

The rate of axon ensheathment varies within individual myelinating processes, resulting in chains of myelin sheaths connected by bridges consisting of thin cytoplasmic processes that provide flexibility for myelination of highly branched axons.

In the nonpivotal stage 1 of the randomized phase 3 PRESERVE-003 trial, patients with immunochemotherapy-resistant metastatic squamous non-small cell lung cancer without actionable genomic alterations treated with the next-generation, pH-sensitive anti-CTLA-4 agent gotistobart had encouraging overall survival outcomes compared to docetaxel.

It is currently unknown how uniform is signalling at the first synapse of vision in vivo. Here, the authors show neighbouring PR1 (red) cones differ in contrast sensitivity and timing due to locally stochastic horizontal-cell feedback, thereby extending total dynamic range.

WHO STEPS survey data help assess global physical activity inequalities, and inform a new framework to recognize the impact of physical activity on health beyond cardiometabolic disease.

Rigorous measurement of adaptation policies is crucial to implementing successful climate policy. Policy analysis of 41 countries shows an 87% increase in adaptation initiatives since 2010, suggesting that concrete adoption of such practices is growing.