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SPTBN1 mutations cause a neurodevelopmental syndrome characterized by intellectual disability, language and motor delays, autism, seizures and other features. The variants disrupt βII-spectrin function and disturb cytoskeletal organization and dynamics.

A photonic topological edge state, achieved by employing hexagonal boron nitride and patterned gold films, confines light four orders of magnitude below the diffraction limit while preserving a high quality factor.

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Immunomodulatory approaches have gained momentum in cardiology. A report now highlights how low-dose interleukin-2 treatment expands regulatory T cells, reducing inflammation, in patients with acute coronary syndrome, shedding light on T cell antigen specificity and differentiation in cardiovascular disease.

This study uncovers a U-shaped trajectory in gray matter volume during pregnancy and postpartum, linked to hormonal changes. Brain recovery postpartum correlates with maternal attachment, highlighting the interplay between neuroplasticity, hormones, and maternal well-being.

Tailored to provide diabetes management recommendations from large training and validation datasets, an artificial intelligence system integrating language and computer vision capabilities is shown to improve self-management of patients in a prospective implementation study.

Excitation energy transfer is important for many photoinduced biological processes in systems with multiple chromophores. Here, the authors elucidate this process for the coenzyme NADH using ultrafast spectroscopy and quantum dynamics.

Climate change-induced sea-level rise and coastal extremes pose serious threats to Small Island Developing States (SIDS). This study provides a coastal flood risk assessment for SIDS globally and reveals the need for timely adaptation.

Superheavy nuclei are synthesized in the laboratory through the fusion of lighter nuclei. Here the authors study multinucleon transfer and interactions during the early stages of nuclear fusion in the collision of ⁴⁰Ca and ²⁰⁸Pb nuclei showing early onset of complexity.

There are large uncertainties in wind-wave climate projections that need to be resolved to allow adaptation planning. A multi-method ensemble of global wave climate projections shows robust changes in wave height, period and direction that put 50% of the global coast at risk.

G49, a dual glucagon/glucagon-like peptide-1 receptor agonist, triggers an inter-organ crosstalk between adipose tissue, pancreas and liver, leading to brown fat activation with the final outcomes of increased energy expenditure and body weight loss.

Genetic susceptibility loci for oropharyngeal cancer have been reported but these studies have not always examined human papillomavirus (HPV) status. Here, the authors perform genome-wide analysis taking into account HPV16 serology status and report two independent loci in the HLA region, suggesting the protective role of HLA variants against HPV infection.

Birthweight has been found to associate with later-life health outcomes. Here the authors perform a meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, identifying differentially methylated CpGs in neonatal blood that associate with birthweight.

Metabolic and alcohol-related liver disease presents challenges in clinical trials due to complex pathophysiology. This Review discusses noninvasive imaging, serum biomarkers and adaptive designs as modalities to enhance patient-centric end points, aiming to refine diagnostics and improve drug development.

Four-membered rings have become popular motifs in drug discovery, prompting the synthetic organic chemistry community to develop more expedite approaches to access these scaffolds. Here, the authors report a photocatalytic radical strategy for accessing densely functionalized azetidines from azabicyclo[1.1.0]butanes.

Testicular germ cell tumors are highly heritable, and the authors present the largest genome association study, identifying 22 novel loci, which account for a third of those identified to date. Implicated pathways include male germ cell development and differentiation, and chromosomal segregation.

Head and neck squamous cell carcinoma can occur with and without the presence of HPV infection. Here, the authors utilise Mendelian randomization to assess the causal effects of smoking and alcohol on HPV-positive and HPV-negative head and neck cancer development.

Glyco-PAINT, a super-resolution microscopy approach that images fluorescently tagged glycan interactions with lectins, enables the measurement of sugar–lectin complex densities, residence times and diffusion on cell surfaces.

Swarm Learning is a decentralized machine learning approach that outperforms classifiers developed at individual sites for COVID-19 and other diseases while preserving confidentiality and privacy.

Using Chang’E data, the authors here identify more than 109,000 previously unrecognized lunar craters and date almost 19,000 craters based on transfer learning with deep neural networks. A new lunar crater database is derived and distributed to the planetary community.

A case–control study investigating the causes of recent cases of acute hepatitis of unknown aetiology in 32 children identifies an association between adeno-associated virus infection and host genetics in disease susceptibility.

The mechanism of cytokinetic failure in the migrating zebrafish epicardium leading to multinucleated cells is shown to be driven by the interaction of the cytokinetic ring and the extracellular matrix through adhesion reinforcement by high traction forces.

There lacks a European cost-benefit analysis of possible protective measures against rising seas. Here the authors used a probabilistic data and modeling framework to estimate costs and benefits of coastal protection measures and found that at least 83% of flood damages could be avoided by dyke improvements along a third of the European coastline.

The high-resolution crystal structure of the SHOC2–MRAS–PP1C complex provides insights into the complex assembly, RAF dephosphorylation, MRAS selectivity versus canonical RAS isoforms, and the impact of Noonan syndrome mutations on complex formation.

Blue Stragglers Stars (BSSs) are anomalously luminous main sequence stars in clusters. Here, the authors show evidence that the fraction of fast rotating BSSs increases for decreasing central density of the host system, suggesting fast spinning BSSs prefer low-density environments.

A modular quantum system-on-chip architecture integrates thousands of individually addressable spin qubits in two-dimensional quantum microchiplet arrays into an integrated circuit designed for cryogenic control, supporting full connectivity for quantum memory arrays across spin–photon channels.

The cytokine IFNα is expressed in the islets of individuals with type 1 diabetes and contributes to local inflammation and destruction of beta cells. Here, the authors provide a global multiomics view of IFNα-induced changes in human beta cells at the level of chromatin, mRNA and protein expression.

In a biomarker-driven, outcome-adaptive platform trial for patients with metastatic castration-resistant prostate cancer, androgen receptor pathway inhibitors showed longer survival with respect to taxanes and physician’s choice treatment.

Pathogenic autoreactive antibodies associated with severe COVID-19 can be identified via self-assembled genome-scale libraries of full-length proteins covalently coupled to uniquely identifying DNA barcodes for analysis by sequencing.

CT scanning and an auditory bioengineering model are used to establish the sound power transmission and occupied bandwidth of the Neanderthal ear, suggesting similar auditory and speech capacities as those in Homo sapiens.

Many heritage sites are threatened by rising sea levels under climate change as they lie within the coastal zone. A continental assessment of exposure of 284 African heritage sites shows that 20% of sites are currently at risk, which more than triples under moderate and high emission scenarios.

In the non-randomized phase 3b/4 DESTINY-Breast12 study, trastuzumab deruxtecan (T-DXd) treatment of patients with HER2⁺ advanced breast cancer and active or stable brain metastases showed consistent intracranial activity and systemic efficacy of T-DXd.

Treatment with neoadjuvant BRAF/MEK-targeted therapy results in higher rates of major pathological response in female compared with male patients with melanoma, and pharmacological inhibition of androgen receptor signalling improved the responses of male and female mice to BRAF/MEK-targeted therapy.

In a multicenter, open-label, randomized controlled trial, digital consults including digital data sharing, patient e-learning and guideline recommendations to clinicians improved guideline-directed medical therapy over the course of 12 weeks.

Both rare and common variants contribute to the aetiology of complex traits such as type 2 diabetes (T2D). Here, the authors examine the effect of coding variation on glycaemic traits and T2D, and identify low-frequency variation in GLP1Rsignificantly associated with these traits.

We propose a new nomenclature for mpox virus lineages with sustained human-to-human transmission to improve tracking, communication and public health response.

Catalytic cycles have been demonstrated in mechanically interlocked systems. Here, the authors report a [2]rotaxane containing a nitroxidic radical macrocycle and establish the efficiency of its catalytic redox cycle in this constrained environment.

A detailed simulation of the packing behaviour of deformable particles settles the debate about whether soft matter can adopt an unconventional crystal structure at high densities — it can. The hunt is now on for a real-world example.

Defective DNA interstrand crosslink repair in Fanconi anaemia drives extensive genomic rearrangements, thereby substantially increasing the risk of cancer development.

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

The detection of topological invariants in the bulk remains challenging even in state-of-the-art experiments. Here, Cardanoet al. propose a method to read-out the Zak phases and topological invariants in one-dimensional chiral systems and detect those in a photonic quantum walk of twisted photons.

Exploiting optical multimodal confinement, the deep-subwavelength confinement of hyperbolic phonon polaritons is demonstrated in isotopically pure hexagonal boron nitride, enabling nanoscale polariton manipulation.