Search

Here the authors use a range of approaches to examine the interplay between genetic variants linked to risk for polygenic skin diseases and transcription factors (TFs) important for skin homeostasis. The findings implicate dysregulated binding of specific TF families in risk for diverse skin diseases.

Investigating the inner structure of baryons is important to further our understanding of the strong interaction. Here, the BESIII Collaboration extracts the absolute value of the ratio of the electric to magnetic form factors and its relative phase for e + e − → J/ψ → ΛΣ decays, enhancing the signal thanks to the vacuum polarisation effect at the J/ψ peak.

In this study, the authors combine interpolation techniques and deep learning methods, introducing Interpolating Neural Networks (INNs) to model complex systems with high accuracy and low computational cost.

Trained and validated on multimodal data from 14.5 million images from multicountry datasets, a foundation model is shown to increase diagnostic and referral accuracy of clinicians when used as an assistant in a trial involving 16 ophthalmologists and 668 patients.

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.

The joint analysis of datasets from NOvA and T2K, the two currently operating long-baseline neutrino oscillation experiments, provides new constraints related to neutrino masses and fundamental symmetries.

The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

Here, the authors leverage whole-genome sequencing from >88,000 diverse individuals to uncover 18 BMI-related genetic signals, including novel variants in participants of African genetic ancestry, highlighting the value of diversity in genetic discovery.

The precise control of interfacial bonding between engineering materials and biological tissues is essential for in vivo uses but remains elusive. Here, the authors report an interface-enhanced strategy by spatial and temporal anchoring of magnetic nanostickers for controlled bioadhesive properties.

High-entropy materials offer an exciting realm of possibilities for material discovery and application; however, their nanoscale synthesis is limited by the need for specialized equipment. Now, a simple synthetic strategy employing wax candles enables production of these compositionally complex nanomaterials.

Engineering macrophages to express chimeric antigen receptors (CARs) for targeted tumor cell phagocytosis has shown encouraging results. Here the authors engineer macrophages with enhanced synthetic phagocytosis receptors which incorporate a FcRɣ-driven phagocytosis CAR and an auto-secreted CD47 blocker, showing improved anti-tumor efficacy

A meta-analysis of genome-wide association studies of type 2 diabetes (T2D) identifies more than 600 T2D-associated loci; integrating physiological trait and single-cell chromatin accessibility data at these loci sheds light on heterogeneity within the T2D phenotype.

The semileptonic decay channels of the Λc baryon can give important insights into weak interaction, but decay into a neutron, positron and electron neutrino has not been reported so far, due to difficulties in the final products’ identification. Here, the BESIII Collaboration reports its observation in e+e- collision data, exploiting machine-learning-based identification techniques.

Ageing is linked to environmental factors. This study shows that although participants gradually adapted to heat over time, cumulative exposure to heatwaves had stable and adverse impacts on ageing, especially among manual workers, rural residents and those with limited air conditioning.

The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet-base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

Although effector activity and memory formation in CD8 + T cells are known to depend on mTORC1-mediated metabolic regulation, the molecular mechanisms involved are lesser known. Here authors show that NKG7, a lysosomal protein specifically expressed in CD8 + T cells, inhibits mTORC1 function via the lysosomal proton pump, vacuolar ATPase, promoting antitumor activity and expansion of memory T cell precursors.

Meta-analyses in up to 1.3 million individuals identify 87 rare-variant associations with blood pressure traits. On average, rare variants exhibit effects ~8 times larger than the mean effects of common variants and implicate candidate causal genes at associated regions.

Genome-wide association analysis in over one million individuals of European ancestry identifies 2,103 independent genetic signals (including 113 new loci) associated with blood pressure traits.

Alkaline-earth phenoxides show promise as optical cycling centres; however, their properties when connected to larger structures is unclear. Now it has been shown that their optical cycling remains efficient despite increasing molecular complexity, enabling the scaling of laser-coolable molecules toward larger structures and surface-bound quantum systems.

The authors study CsV₃Sb₅ by nuclear quadrupole resonance. At ambient pressure, there are two superconducting gaps with line nodes in the smaller one. For pressures above P_c ~ 1.85 GPa, where the charge-density wave phase is completely suppressed, they observe fully-gapped superconductivity with broken rotational symmetry.

Although many room temperature phosphorescence host–guest systems with versatile performances have been developed, their photophysical mechanisms remain often unclear. Here the authors reveal that a dynamic coupling process in the excited state is crucial for inducing phosphorescence, where host and guest molecules firstly couple to enhance the intersystem crossing efficiency, and then decouple to transfer excitons to the triplet state of guest.

In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.

A multi-ancestry genome-wide gene–smoking interaction study identifies 13 new loci associated with serum lipids.

Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.

Controlling the stereoselectivity of radical reactions remains a major challenge due to the high reactivity of free radicals. Now it has been shown that asymmetric geminate recasting—a catalytic process in which radicals recombine after bond cleavage—can be used to produce chiral sulfur centres through photocatalytic deracemization of sulfinamides.

A preclinical covalent compound, CMX410, contains a aryl fluorosulfate warhead that targets the acyltransferase domain of Mtb Pks13, an essential enzyme in cell-wall biosynthesis, making it a promising candidate for tuberculosis treatment regimens.

A consensus cell type atlas for the fly brain provides both an intellectual framework and open-source toolchains for brain-scale comparative connectomics.

A comparison of alpha diversity (number of plant species) and dark diversity (species that are currently absent from a site despite being ecologically suitable) demonstrates the negative effects of regional-scale anthropogenic activity on plant diversity.

Spatial molecular imaging analysis of human pancreatic adenocarcinomas describes multicellular neighborhoods in the tumor microenvironment. Ligand–receptor analysis using optimal transport-based SCOTIA identifies interleukin-6 as a mediator of chemoresistance.

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

Many important cellular structures in the body are curved at the scale of multiple cell lengths. Cells respond collectively to this curvature, and it influences their migration during development and growth.

The mechanical properties of structural ceramics are characterized by a high degree of fragility and brittleness. This study demonstrates that, contrary to expectation, their brittleness can be reduced substantially by introducing nanopores together with weak grain boundary phases.

The authors investigate the response of Archaea to experimental warming in a tallgrass prairie ecosystem. Warming was linked to reduced diversity and convergent succession, with further links to changed ecosystem function. Stochastic processes dominated community changes but decreased over time.

There are currently no licensed vaccines to prevent Group A Streptococcus (GAS) infections. In this study, the authors evaluate the immune response and preclinical efficacy of a multicomponent mRNA lipid-nanoparticle vaccine against GAS.

Quantum electrodynamics predicts a rare process in which light is scattered by light. The ATLAS Collaboration reports signs of this elusive effect in the collisions of ultra-relativistic lead ions.

Intermetallics are traditionally characterised by their inherent brittleness due to a lack of sufficient slip systems and the absence of strain hardening. Here authors show that a single-phase distorted high entropy B2 intermetallic alloy displays notable strength and plasticity at room temperature, along with stable plastic flow at high homologous temperatures.

Dextran sulfate sodium is a colitis inducer that stimulates a ROS–Src–IP6K2 signaling axis to generate 5-IP₇, which sterically inhibits PI(4,5)P₂ phosphatases to promote PI(4,5)P₂-mediated E-cadherin endocytosis and epithelial junction breakdown.

Zinc(I) bimetallic clusters have previously been reported, but they are not stable in air. Here, the authors synthesize octametallic Zinc(I) clusters with multi-centred zinc–zinc bonds and extensive electron delocalization over the cluster, resulting in cubic aromaticity and enhanced stability.

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.

A turnkey regime for soliton microcombs is demonstrated, in which solitons are generated by switching on a co-integrated pump laser, eliminating the need for photonic and electronic control circuitry.

Fine-scale geospatial mapping of overweight and wasting (two components of the double burden of malnutrition) in 105 LMICs shows that overweight has increased from 5.2% in 2000 to 6.0% in children under 5 in 2017. Although overall wasting decreased over the same period, most countries are not on track to meet the World Health Organization’s Global Nutrition Target of <5% in over half of LMICs by 2025.

Measurements combined with post-processing of their outcomes can be used to prepare ordered quantum states. It has been shown that they can drive a Nishimori phase transition into a disordered state even in the presence of quantum errors.

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.

Trogocytosis, the uptake of membrane proteins by an antigen-presenting cell from its cognate T cell, allows the identification of neoepitopes targeted by T cell receptors with high sensitivity.

Pooling participant-level genetic data into a single analysis can result in variance stratification, reducing statistical performance. Here, the authors develop variant-specific inflation factors to assess variance stratification and apply this to pooled individual-level data from whole genome sequencing.

A high-resolution, global atlas of mortality of children under five years of age between 2000 and 2017 highlights subnational geographical inequalities in the distribution, rates and absolute counts of child deaths by age.