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Polybrominated diphenyl ethers (PBDEs) are linked to dyslipidemia, but why individuals respond differently is unclear. Here, the authors use a national biomonitoring cohort to reveal how specific genetic variants interact with PBDE exposure to increase risk, identifying a key mechanism that disrupts cholesterol metabolism.

The authors report in full the primary endpoint data of a pilot clinical trial (NCT 03282656) that used post-transcriptional gene silencing of BCL11A expression to reverse the fetal to adult hemoglobin switch in sickle cell disease. They develop new single-cell flow cytometry and microfluidic techniques to predict the efficacy of HbF induction and show that red blood cells from these patients exhibit greater resistance to deoxygenation-induced polymerization than red blood cells from hydroxyurea-responsive patients.

Asymmetric activation of amide bonds remains a challenge due to the high stability of amide linkages. Here, the authors show an organocatalytic asymmetric C-N bond cleavage of N-sulfonyl biaryl lactams under mild conditions, to access axially chiral biaryl amino acids.

Desymmetrization of achiral building blocks is one of the most efficient ways to access enantiopure compounds of synthetic relevance. Here, the authors desymmetrize glutarimides with alcohols via an imide C–N bond cleavage under NHC organocatalysis.

Shared E-bike battery systems offer a solution to battery range limitations by enabling battery swapping. Here, authors develop a billion-parameter large foundation model trained on over ten million E-bike batteries data, which is capable of three downstream tasks: anomaly detection, state of health estimation, and remaining range prediction.

The authors find low-energy magnetic excitations and a flat band near the Fermi level in kagome metal superconductor CsCr3Sb5 by angle-resolved photoemission and resonant inelastic X-ray scattering. They suggest that the flat band plays a role in the emergence of charge/magnetic order at low temperatures.

Real-time and continuous monitoring of plant immune responses is essential for plant immunity study and crop pathogen management. Here, the authors report an ultra-thin electronic tattoo patch made of silver nanowire films for multiple plants immune response monitoring using electrical impedance spectroscopy.

It is uncertain how much life expectancy of the Chinese population would improve under current and greater policy targets on lifestyle-based risk factors for chronic diseases and mortality behaviours. Here we report a simulation of how improvements in four risk factors, namely smoking, alcohol use, physical activity and diet, could affect mortality. We show that in the ideal scenario, that is, all people who currently smokers quit smoking, excessive alcohol userswas reduced to moderate intake, people under 65 increased moderate physical activity by one hour and those aged 65 and older increased by half an hour per day, and all participants ate 200 g more fresh fruits and 50 g more fish/seafood per day, life expectancy at age 30 would increase by 4.83 and 5.39 years for men and women, respectively. In a more moderate risk reduction scenario referred to as the practical scenario, where improvements in each lifestyle factor were approximately halved, the gains in life expectancy at age 30 could be half those of the ideal scenario. However, the validity of these estimates in practise may be influenced by population-wide adherence to lifestyle recommendations. Our findings suggest that the current policy targets set by the Healthy China Initiative could be adjusted dynamically, and a greater increase in life expectancy would be achieved.

It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer risk

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.

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.

This study highlights the role Polar regions as a limiting factor in global sustainability due to teleconnection effects, and then propose a SDG target, key indicators, and emphasize Indigenous inclusion and global action.

The authors investigate the electronic structure of kagome CsCr₃Sb₅ using high-resolution angle-resolved photoemission spectroscopy and ab-initio calculations. The results identify CsCr₃Sb₅ as a strongly correlated Hund’s metal with incipient flat bands near the Fermi level.

Maps of protein-protein interactions (PPIs) help identify new components of pathways, complexes, and processes. In this work, state-of-the-art methods are used to identify binary Drosophila PPIs, generating broadly useful physical and data resources.

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.

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.

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.

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.

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.

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.

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.

The authors study the non-centrosymmetric achiral material In_xTaS₂ by angle-resolved photoemission spectroscopy and quantum oscillations. They find that it hosts an “ideal” Kramers nodal line, well isolated at the Fermi level.

Luis Pérez-Jurado, Stephen Chanock and colleagues detect clonal chromosomal abnormalities in peripheral blood or buccal samples from individuals in the general population. They show that the frequency of such events increases with age and is associated with elevated risk of developing subsequent hematological cancers.

Injury poses heavy burden on public health, but little evidence on the potential role of climate change on injury exists. Here, the authors collect data during 2013-2019 in six provinces of China to estimate the associations between temperature and injury mortality, and to project future mortality burden attributable to temperature change driven by climate change.

In a randomized, double-blind, placebo-controlled phase 3 trial, the anti-vascular endothelial growth factor receptor small-molecule inhibitor fruquintinib plus chemotherapy significantly extended progression-free survival, but not overall survival, as second-line therapy in patients with advanced gastric or gastroesophageal junction cancers.

Ciliogenesis is negatively regulated by the CP110-CEP97 complex, although the mechanism controlling mother centriole localization is poorly understood. Here, Huang et al. show that KIF24 recruits MMP9 to the mother centriole, where it regulates ciliogenesis by controlling CP110-CEP97 recruitment.

The controlled manipulation of the topological phases of electronic materials is a central goal of modern condensed matter research. Here, the authors demonstrate controllable switching between two distinct topological phases in a layered ferromagnet via thermal cycling.

Over the last few years, several van der Waals materials have been found that retain magnetic ordering down to monolayer thickness. These materials provide a simple platform for studying the magnetism in reduced dimensions. Here, Zhong et al study the thickness dependence of magnetic ordering in Cr2Te3, and find a crossover from Stoner to Heisenberg-type magnetism as thicknesses are reduced.

Implantation-caused foreign-body response is a commonly encountered issue and can result in failure of implants. Here, the authors demonstrate that a highly water soluble, biocompatible, and easily accessible poly-DL-serine hydrogel can mitigate foreign-body response.

Three-body dissociation of water, producing one oxygen and two hydrogen atoms, has been difficult to investigate due to the lack of intense vacuum ultraviolet sources. Here, using a tunable free-electron laser, the authors obtain quantum yields for this channel showing that it is a possible route to prebiotic oxygen formation in interstellar environments.

The processes regulating cardiomyocyte (CM) maturation are unclear. Here, the authors show that serum response factor regulates CM maturation only in neonatal CMs through stage-specific chromatin occupancy that affects cell size, sarcomere and transverse-tubule organization, and mitochondria

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.

Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

Efficient, large-scale genomic analysis is facilitated on the cloud by a computational tool with error-diagnosing and self-healing capabilities.