Search

In vivo base editing of a causative mutation that leads to the neurodevelopmental disorder Snijders Blok–Campeau syndrome restores protein dosage and ameliorates molecular and behavioural deficits in a humanized mouse model of the condition.

The existence of a long-lived, prethermal regime in many-body systems with tunable heating rates, driven by structured random protocols, is observed using a 78-qubit superconducting quantum processor.

Jahn-Teller distortions alter molecular structures, but are usually only probed on the basis of electronic signatures. Here, the authors demonstrate that tip-enhanced Raman imaging in real space can map the associated vibrational changes in a single molecule.

There is an unmet medical need for endometrial cancer patients with mismatch-repair proficient disease. Here, the authors report the primary analysis of the FRUSICA-1 phase Ib/II trial evaluating fruquintinib plus sintilimab in this population, showing an ORR of 32.7%, a median PFS of 8.6 months, and manageable toxicity.

Reforming 3d-metal-based visible light catalytic platforms for inert bulk chemical activation is highly desirable. Herein, the authors report the use of a Brønsted acid to unlock robust and practical iron ligand-to-metal charge transfer photocatalysis for the activation of multifarious inert haloalkylcarboxylates to produce halogencontaining alkyl radicals.

Transformations of alcohols, which are ubiquitous in chemistry and are native functionalities in many natural products and bioactive molecules, are cornerstones of organic synthesis. Here the authors describe photocatalyzed cross-couplings of activated alcohols with α-amino acids, providing a direct approach for a variety of unnatural amino acids.

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.

Here the authors report the synthesis of defect-rich boron nitride by flux reconstruction method, which exhibited good reactivity for semihydrogenation of low concentration acetylene in ethylene-abundant gas stream.

The operational lifetimes of n-i-p perovskite solar cells have been limited by the layer-to layer ion diffusion in the perovskite/hole-transport layer heterojunction. Here, the authors introduce an ultrathin p-type polymeric interlayer and achieve a certified efficiency of 26.17% in stable devices.

A telomere-to-telomere genome assembly of allohexaploid bread wheat cv. Chinese Spring (CS-IAAS), along with transcriptomic and proteomic data, highlights wheat genome complexity and its structural and functional features.

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.

High-energy-density lithium metal batteries suffer from limited cycle life. Here the authors develop a homogeneous and mechanically stable solid–electrolyte interphase by using a trioxane-modulated electrolyte, thereby expanding battery cyclability.

Oncolytic viruses are able to target tumours and thought to induce apoptosis while remodelling the tumour immune microenvironment. Here authors show in an oncolytic parapoxvirus ovis model that pyroptosis, a highly immunogenic Gasdermin-E-dependent cell death mechanism, is the dominant cell death pathway during virotherapy.

Quantum devices offer the potential to simulate quantum phenomena, which are otherwise computationally intractable. Here, Shi, Sun, Wang and coauthors use a superconducting quantum simulator to study spin-transport at infinite temperature.

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.

Analysis of ancient DNA, stable isotope data and archaeological evidence from the Fujia archaeological site in eastern China suggests it was populated by a matrilineal Neolithic community between 2750 and 2500 bc.

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.

Renal cell carcinoma consists of several subtypes, and recurrence is highly dependent on subtype. Here, the authors develop a multi-classifier using imaging, lncRNA and clinical data to predict recurrence in papillary renal cell carcinoma.

Understanding the charge storage mechanism of electrode materials is critical for designing electrochemical energy storage devices. Here, authors study Li⁺ intercalation into two-dimensional metal carbides in nonaqueous electrolytes, revealing distinct behavior for different surface terminations.

A versatile nano-adaptor is used to construct multi-specific nano-antibodies for treatment of tumours in mice.

Several approaches based on positron emission tomography (PET) are currently used to evaluate cancer response to immunotherapy. Here the authors report the results of a phase 1/2 trial evaluating a PET radiotracer, ⁶⁸Ga-grazytracer, for the imaging of granzyme B expression in patients treated with immune checkpoint inhibitors or CAR-T cell therapy.

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.

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.

The corticotropic-releasing hormone enhances the bone-marrow homing and engraftment of human haematopoietic stem and progenitor cells via the mechanical remodelling of the cell’s cytoskeleton and the extracellular matrix.

Low-frequency quasiperiodic oscillations in X-ray data are thought to trace the accretion flow in X-ray binaries. Here, the detection of 200 keV oscillations probes the innermost regions of MAXI J1820+070, revealing the precession of a small-scale jet.

Antibiotic adjuvant peptide SLAP-S25 binds to the inner and outer membranes of Gram-negative bacteria to cause membrane damage and boost efficacy of all major antibiotic classes.

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.

Analyses of 2,658 whole genomes across 38 types of cancer identify the contribution of non-coding point mutations and structural variants to driving cancer.

In somatic cells the mechanisms maintaining the chromosome ends are normally inactivated; however, cancer cells can re-activate these pathways to support continuous growth. Here, the authors characterize the telomeric landscapes across tumour types and identify genomic alterations associated with different telomere maintenance mechanisms.

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.

Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.

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.

Analysis of cancer genome sequencing data has enabled the discovery of driver mutations. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium the authors present DriverPower, a software package that identifies coding and non-coding driver mutations within cancer whole genomes via consideration of mutational burden and functional impact evidence.

An analysis of 2,954 genomes from 38 cancer subtypes identified 19,166 retrotransposition events in 35% of samples. Aberrant LINE-1 retrotranspositions can lead to the deletion of tumor-suppressor genes as well as the amplification of oncogenes.

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.

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.

The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.

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.

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 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.

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.

Signatures of an excitonic insulator have been reported in several two-dimensional materials. Here the authors report electronic properties of monolayer ZrTe₂ from ARPES and STM measurements that are consistent with the preformed exciton gas phase, a precursor for the excitonic insulator.

Comparing the haplotypes of a few randomly microdissected chromosomes to a full genome-wide haplotype allows one to determine the long-range haplotype of chromosomes for which only one copy was captured.

MUC1-C is overexpressed in castration-resistant prostate cancer and neuroendocrine prostate cancer. Here, the authors show that MUC1-C drives lineage plasticity through MYC and BRN2, inducing neuroendocrine features and stemness in prostate cancer.