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The authors resolve 63 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched for inverted repeats that predispose to inversion.

The study demonstrates that vitamin D binding protein causes skeletal muscle atrophy and plays a role in cancer-related muscle wasting, regardless of vitamin D levels in preclinical models.

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.

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.

King Richard III was a controversial English King whose remains are presumably deposited in Grey Friars in Leicester. Here the authors sequence the mitochondrial genome and Y-chromosome DNA of the skeletal remains and living relatives of Richard III and confirm that the remains belong to King Richard III.

Here, the authors show that continuous glucose metrics capture some components of glycaemic physiology in euglycaemic individuals. An evaluation of health outcomes longer-term would be required to assess whether continuous glucose monitoring has utility for health management in this population.

Phylogeographic analysis and ecological niche modelling identify environmental factors associated with dispersal events, range expansion and local circulation risk of Oropouche virus in people in Brazil.

Computational methods can be used to find potent neutralizing antibodies against viruses such as SARS-CoV-2. Here the authors use an AI method to landscape antibodies, predict specificity and antibody-antigen structure, pick out potent neutralizers and show that these antibodies are protective against SARS-CoV-2 challenge in mice models.

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.

The fossil expert found love at first sight with trilobites.

Converting methane into valuable chemicals is challenging due to its stable bonds and inefficient C–C coupling. Herein, a dual-site catalyst with high-valent metals to selectively converts methane to acetic acid with high efficiency and stability.

Histone modifications, such as N^ε-lysine acetylation and methylation, play critical roles in regulating eukaryotic transcription. Now, the oxidation of acetyl-lysine to hydroxyacetyl-lysine of a select histone has been identified as a distinct modification catalysed by the human JmjC histone demethylase KDM3A, which plays a role in the cellular hypoxic response.

Two individuals with KCNT1-related epileptic encephalopathy were treated with a KCNT1-targeting antisense oligonucleotide, leading to significant reductions in seizure frequency and intensity, but also the development of hydrocephalus.

Multi-ancestry GWAS meta-analysis identifies risk loci for severe nausea and vomiting of pregnancy. Downstream analyses explore maternal and fetal contributions of these loci and their temporal effects.

Here, the authors compare H5N1 influenza viruses from cow, human, and mountain lion. Airborne transmission in hamsters remains inefficient, however the human H5N1 virus transmitted more efficiently via contact transmission, highlighting hamsters as a complementary animal model for assessing H5N1 risk.

Atopic dermatitis is an immune disease driven by cytokines including IL-4/IL-13. This study shows that a topical ITK/TRK inhibitor blocks an array of T cell cytokines, inhibits NGF-induced basophil activation, and reduces inflammation in human skin explants and dermatitis models, indicating therapeutic potential.

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.

Paternal obesity impacts offspring health, though the underlying mechanisms remain poorly understood. Here, the authors show that male obesity drives adipose mitochondrial dysfunction in F₁ mouse progeny via a let-7-DICER axis, identifying a pathway for intergenerational metabolic inheritance

An improved strategy for siting food and energy production is needed to avoid further habitat loss. This paper presents a multi-sector framework that can empower land use planners to find synergies across conservation and development sectors.

Using active and passive genomic surveillance, researchers observed the rapid spread of high pathogenicity avian influenza H5N1 D1.1 viruses in wild birds during the 2024 migratory season, which coincided with detection in humans, but did not identify mammalian adaptive markers in viruses from wild birds.

Melanocytic nevi are small, pigmented benign skin tumours. This large-scale genome-wide association study for nevus count identifies novel genomic regions, highlighting pathways beyond pigmentation and offers new insights into melanoma risk and biology.

Emerging multidrug-resistant Neisseria gonorrhoeae is a global health threat in the treatment of gonorrhoea. This study reports the discovery and characterization of a promising antigonorrhoea agent that addresses antibiotic resistance.

Desmoplastic small round cell tumor (DSRCT), a very rare and understudied sarcoma, presents serious challenges for both diagnosis and treatment. Here, the authors employ multi-omics profiling on 30 refractory DSRCT patients to improve the diagnosis and identify potentially actionable targets for individualized DSRCT treatment.

An in vitro toolkit for studying VSG diversification defines key molecular requirements underlying the formation of mosaic VSGs, providing an experimental framework for the exploration of antigen diversification in Trypanosoma brucei and in other pathogenic microorganisms.

Plasma and CSF p-tau biomarkers show similar dynamics across Alzheimer’s disease progression, though plasma %p-tau217 and eMTBR-tau243 show less ceiling effect than CSF. Combining %ptau217, %p-tau205, and (e)MTBR-tau243 supports staging and prognosis.

In a large UK-based primary care randomized trial, immediate artificial intelligence (AI)-driven prioritization of chest X-rays did not significantly shorten time to computed tomography or lung cancer diagnosis versus standard workflow, suggesting that AI-based prioritization alone is unlikely to accelerate the lung cancer diagnostic pathway.

Millisecond pulsar PSR J0435+3233, with a spin-down rate that is 100 times higher than those of other millisecond pulsars, occupies a unique position on the P–Ṗ diagram. This pulsar challenges classical recycling models and constrains spin-up theories.

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.

When 100 social and behavioural science claims were examined, 34% of reanalyses closely matched the original results, with 74% reaching the same conclusion, revealing limited robustness of single-path analyses and the need to address analytical uncertainty.

The meningeal compartment communicates with the brain to modulate homeostatic functions. Here, the authors demonstrate that natural killer (NK) cells and innate lymphoid cells (ILC) 1 shape synaptic neuronal transmission and affect mouse behavior.

Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Starburst galaxies are seen to host galaxy-scale winds, which are super-fast and could be powered entirely by the thermal pressure of gas heated by supernovae.

A study of reproducibility in a stratified random sample of 600 papers published from 2009 to 2018 in 62 journals spanning the social and behavioural sciences finds higher reproducibility among more recent papers and papers from journals that require data sharing.

Neuroimmune interactions are important in amyotrophic lateral sclerosis (ALS). Here the authors characterize the role of NK cells in mouse models of ALS, and in patient tissue.

XRISM spectroscopy of the nucleus of the Circinus galaxy indicates elemental abundances suggestive of a dominant enrichment from core-collapse supernovae with progenitors below 20 solar masses; more massive stars may directly collapse into black holes.

An analysis of whole-exome sequencing data linked to longitudinal electronic health records from 44,028 British South Asians finds new gene–phenotype associations and identifies 2,991 genes with rare biallelic predicted loss-of-function genotypes.

Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes of neurodevelopmental disorders with epilepsy.

Here, the authors leverage stable isotope and peptide analyses to show that some 18th century Māori individuals ate largely plant-based diets. This work aligns with Māori oral history and archaeological evidence, which points to sweet potato and taro cultivation as important for population growth and cultural change at the time.

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.

Androgen activity in the male embryonic hindbrain prolongs hindbrain differentiation in male individuals and drives sex differences in the incidence and prognosis of posterior fossa type A (PFA) ependymoma, an aggressive childhood brain tumour.

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

The transmission dynamics of the 2023–2024 Oropouche virus (OROV) outbreak in Brazil (Manaus City) revealed a twofold increase in Oropouche seroprevalence in Manaus, and in a separate historical reconstruction, the authors estimate that there were approximately 9.4 million OROV infections during major outbreaks across Latin America and the Caribbean.

Orientia tsutsugamushi utilizes a unique, conserved domain in Ank effector proteins to bind lamin A and inhibit NF-κB, which is linked to global alterations in chromatin accessibility during infection.

Photochargeable semiconductors offer a promising route to overcoming efficiency limits in photocatalytic transformations. Now it has been shown that zinc indium sulfide nanocrystals with a high charge storage capacity, combined with a nickel cocatalyst, enable highly selective and scalable amine dehydrogenative coupling with hydrogen evolution.