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Different types of SETBP1 variants cause variable developmental syndromes with only partial clinical and functional overlaps. Here, the authors report that SETBP1 variants outside the degron region impair DNA-binding, transcription, and neuronal differentiation capacity and morphologies.

Data obtained from the MicroBooNE liquid-argon time projection chamber are used to exclude the single light sterile neutrino interpretation of the LSND and MiniBooNE anomalies at the 95% confidence level.

The Einstein Probe has discovered a fast X-ray transient, EP240414a, associated with a broad-lined type Ic supernova. Its unusually soft spectrum and weak jet add to the diversity of stellar deaths and suggest a previously unknown Wolf–Rayet star explosion mechanism.

Microhomology-mediated end joining (MMEJ) and mitotic DNA synthesis (MiDAS) are critical DNA repair pathways in mitosis. Here the authors show that CIP2A–TOPBP1 coordinate mitotic DNA repair through the regulation of factors required for MiDAS and MMEJ.

The MiDAC complex regulates gene expression through histone deacetylation. Here, the authors identify a recurrent MIDEAS mutation that disrupts an auto-inhibitory loop, elevating deacetylase activity and causing a multisystem developmental disorder.

The Authors assess systemic risks in global trade by modelling disruptions at maritime chokepoints. They estimate USD192 billion of exposed trade and USD10.7 billion in economic losses, emphasizing the urgent need to safeguard strategic passages.

Amyloid fibrils exhibit structural polymorphism, yet the influence of assembly environments on filament structures remains unclear. Here, the authors carried out three-dimensional reconstructions of individual fibrils using atomic force microscopy to reveal Aβ42 fibril polymorphism’s sensitivity to assembly conditions, uncovering rare species akin to those in human brains.

Developing porous crystalline materials with tailored properties is challenging because of the vast design space and the high cost of screening. Now, highly fluorescent covalent organic frameworks have been identified through an AI-assisted iterative experiment–learning cycle workflow that integrates electronic configuration and quantum-level insights into the learning process.

Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

A pan-cancer genomic analysis reports the effects of structural variations on chromatin domains (TADs). Most TAD disruptions do not result in appreciable changes in expression of nearby genes.

Cancers evolve as they progress under differing selective pressures. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, the authors present the method TrackSig the estimates evolutionary trajectories of somatic mutational processes from single bulk tumour data.

With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.

A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

Thermal lepton pairs are ideal probes for the temperature of quark-gluon plasma. Here, the STAR Collaboration uses thermal electron-positron pair production to measure quark-gluon plasma average temperature at different stages of the evolution.

Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

The tightly closed conformation of the Spike helps SARS-CoV-2 evade the immune system. This cryptic conformation is shaped by increased mannosidic glycosylation and furin cleavage shielding conformational epitopes enable virus to persist in the presence of neutralizing antibodies.

‘Ultrathin’ gold interlayers are shown to form nanoparticles that balance optical losses and electrical contact, enabling efficient perovskite–perovskite integration for scalable and durable triple-junction photovoltaics.

A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

Systematic analysis from the Global Burden of Disease study reported that, despite global improvements from 1990 to 2021, dietary iron deficiency-associated disease burden remains high in women, children and residents in low socio-demographic index countries.

Chen et al. show that PEX39 cooperates with PEX7 in the peroxisomal import of proteins containing a PTS2 site and uncover an (R/K)PWE motif in PEX39 and PEX13 that binds to PEX7 and facilitates the import of PTS2-containing proteins.

This Perspective underscores how ligand-installed nanoparticles can transcend their delivery role by incorporating targeted protein degradation (TPD) functionality, with nanoparticle-mediated-targeting chimeras, broadening the TPD toolkit.

The study of isotopes away from the beta stability valley is crucial for the understanding of nuclear structure, especially for neutron-deficient heavy nuclei. Here, the authors report the observation of the alpha-decay isotope 210-protactinium (Pa), extending the alpha-decay systematics of underexplored regions of the nuclides chart.

While Bell inequalities have been violated several times—mostly in photonic systems—their violations within particle physics experiments are less explored. Here, the BESIII Collaboration showcases Bell-violating nonlocal correlations between entangled hyperon pairs.

Large language models (LLMs) are emerging as powerful tools in healthcare, with a growing role in global health, particularly in low- and middle-income countries. This Perspective examines the current progress, challenges and prospects of LLMs in addressing health system disparities and supporting achievement of the Sustainable Development Goals.

Micro- and nanostructures have many potential applications, such as in optoelectronic devices and in the pharmaceutical industry. Here, the authors present a spherical, smooth and yet crystalline morphology found in molecular films deposited via guard flow-enhanced organic vapour jet printing.

The exact role of the degenerate nucleotide-binding site in a heterodimeric ABC transporter is unclear. Here, authors identify a mycobacterial isoniazid efflux pump, capture its asymmetric intermediate states and reveal mechanism of this transporter mediated by the degenerate site.

Multisystem inflammatory syndrome in children (MIS-C) onsets in COVID-19 patients with manifestations similar to Kawasaki disease (KD). Here the author probe the peripheral blood transcriptome of MIS-C patients to find signatures related to natural killer (NK) cell activation and CD8+ T cell exhaustion that are shared with KD patients.

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

Array microscope with mirrored well plates enables automated, scalable 3D behavioral analysis of 48 zebrafish larvae in parallel, revealing complex kinematics and phenotypes missed by conventional 2D methods.

Exercise promotes recovery after stroke, but the underlying mechanisms are unclear. Here, the authors show that regulatory T cells enable exercise-induced repair by reducing neuronal hyperexcitability via interleukin-10, linking immunity to functional regeneration.

Li et al. uncover a lysosomal surveillance response whereby intestinal lumen deacidification induces a transcriptional programme that boosts lysosomal activity and improves protein aggregate clearance in multiple worm disease models, extending healthspan.

A cost-effective all-in-one halide cathode material with high energy density and exceptional cycling stability can be used to achieve energy-dense, durable cathodes for the next generation of all-solid-state batteries.

A new artificial intelligence model, DeepSeek-R1, is introduced, demonstrating that the reasoning abilities of large language models can be incentivized through pure reinforcement learning, removing the need for human-annotated demonstrations.

Entanglement was observed in top–antitop quark events by the ATLAS experiment produced at the Large Hadron Collider at CERN using a proton–proton collision dataset with a centre-of-mass energy of √s  = 13 TeV and an integrated luminosity of 140 fb⁻¹.

A brain–heart–eye axis is generated through integration of multi-omics and multi-organ data from UKBB, BLSA, FinnGen and PGC, revealing phenotypic landscapes and genetic arcitectures of disease.

This study used accelerometer data from participants of the UK Biobank to reveal associations between sedentary and physical activity levels and mortality in people with epilepsy. These associations differ between people with epilepsy and the general population.

Florfenicol amine hijacks intrinsic resistance in Mycobacterium abscessus, highlighting that antimicrobial resistance mechanisms can be harnessed for antibiotic activation.

Some cancer patients first present with metastases where the location of the primary is unidentified; these are difficult to treat. In this study, using machine learning, the authors develop a method to determine the tissue of origin of a cancer based on whole sequencing data.

Multi-omics datasets pose major challenges to data interpretation and hypothesis generation owing to their high-dimensional molecular profiles. Here, the authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery.

The MmpL5/MmpS5 efflux system is crucial for drug extrusion and siderophore export in M. tuberculosis. Here, the authors report its high-resolution cryo-EM structures, revealing a unique trimeric assembly and a flexible extracellular stalk.

Resonant dispersive wave (RDW) emission enables tunable few-femtosecond UV pulses which can be useful for ultrafast science. Here, the authors investigate ultrafast relaxation and structural evolution of morpholine with enhanced temporal resolution, following excitation via RDWs.

Understanding deregulation of biological pathways in cancer can provide insight into disease etiology and potential therapies. Here, as part of the PanCancer Analysis of Whole Genomes (PCAWG) consortium, the authors present pathway and network analysis of 2583 whole cancer genomes from 27 tumour types.

There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.

Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

Many tumours exhibit hypoxia (low oxygen) and hypoxic tumours often respond poorly to therapy. Here, the authors quantify hypoxia in 1188 tumours from 27 cancer types, showing elevated hypoxia links to increased mutational load, directing evolutionary trajectories.