Search

Sinonasal tumour diagnosis can be complicated by the heterogeneity of disease and classification systems. Here, the authors use machine learning to classify sinonasal undifferentiated carcinomas into 4 molecular classe with differences in differentiation state and clinical outcome.

We report the outcome of an international optical observation campaign of a prototype constellation satellite, AST SpaceMobile’s BlueWalker 3, which features a 64.3 m² phased-array antenna and a launch vehicle adaptor.

Observations of the super-massive Neptune-sized transiting planet TOI-1853 b show a mass almost twice that of any other Neptune-sized planet known so far and a bulk density implying that heavy elements dominate its mass.

Genome-wide association studies (GWAS) have revealed gene variants associated with breast cancer, but their association with breast cancer development in Latinas is not clear. Here, the authors carry out a GWAS of breast cancer in Latinas and identify a significant protective variant of Indigenous American origin in the 6q25 region.

Progressive diseases tend to be heterogeneous in their underlying aetiology mechanism, disease manifestation, and disease time course. Here, Young and colleagues devise a computational method to account for both phenotypic heterogeneity and temporal heterogeneity, and demonstrate it using two neurodegenerative disease cohorts.

Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.

Primary biliary cirrhosis is an autoimmune liver disease with poor therapeutic options. Here Cordell et al. a perform meta-analysis of European genome-wide association studies identifying six novel risk loci and a number of potential therapeutic pathways.

The fossil record of flowers is limited, necessitating other approaches to understanding floral evolution. Here, Sauquet and colleagues reconstruct the characteristics and diversification of ancient angiosperm flowers by combining models of flower evolution with an extensive database of extant floral traits.

Derailed differentiation of human-specific progenitors of the developing cerebellar rhombic lip is the cause of group 4 medulloblastoma, the most common childhood brain tumour. 

Selective amino acid receptors that operate in aqueous media are of interest for potential diagnostic and sensing applications. Here, the authors report glucose-derived photoswitchable receptors based on a tetra-ortho-fluoroazobenzene unit for light-controlled binding of amino acid esters in water.

Achieved high thermoelectric figure of merit (ZT) in organic thermoelectric materials remains a challenge due to their low packing order and poor host/dopant miscibility. Here, the authors report side chain-engineered n-doped fullerene derivatives with record ZT >0.3 for organic thermoelectrics.

Somatic mutations drive the clonal proliferation of myeloproliferative neoplasms. Here the authors conduct a genome-wide association study and identify germline variation at multiple loci associated with the development and disease phenotype of these cancers.

Diffraction imaging studies of free individual nanoparticles have so far been restricted to XUV and X-ray free - electron laser facilities. Here the authors demonstrate the possibility of using table-top XUV laser sources to image prolate shapes of superfluid helium droplets.

Activation of PI3K plays a role in pulmonary inflammation. Here, the authors develop a drug inhibitor of PI3K, and show that it inhibits lung inflammation and damage in mouse models of asthma and lung fibrosis.

Structures of mouse Bcs, a mitochondrial membrane-bound AAA protein, in two different conformations reveal a potential mechanism of translocating folded proteins across a membrane and allow mapping of human disease-associated mutations.

Epilepsy is a brain network disorder with associated genetic risk factors. Here, the authors show that spatial patterns of transcriptomic vulnerability co-vary with structural brain network alterations in focal and generalized epilepsy.

piRNAs are small RNA molecules found primarily in the testes of mice and men. Stallmeyer et al. demonstrate that variants in specific genes can disrupt the formation of piRNAs, impairing spermatogenesis and causing human male infertility.

The authors propose an explainable consciousness indicator using deep learning to quantify arousal and awareness under sleep, anesthesia, and in patients with disorders of consciousness.

Analysis of DNA from ancient individuals of the Near East documents the extreme substructure among the populations which transitioned to farming, a structure that was maintained throughout the transition from hunter–gatherer to farmer but that broke down over the next five thousand years.

Genome-wide analysis identifies 30 loci associated with bipolar disorder, allowing for comparisons of shared genes and pathways with other psychiatric disorders, including schizophrenia and depression.

Transmission spectroscopy observations from the James Webb Space Telescope show the detection of carbon dioxide in the atmosphere of the gas giant exoplanet WASP-39b.

Silicon carbide surfaces offer many interesting properties induced by surface strain relief. Soukiassian et al.report hydrogen-induced self-organized nano-voids below a silicon carbide surface, and suggest the resultant nanotunnel may be used as a template to capture atoms or molecules.

Garofano et al. use single-cell RNA-sequencing data to classify glioblastomas along a metabolic axis of mitochondrial and glycolytic/plurimetabolic states and a neurodevelopmental axis of proliferative/progenitor and neuronal states.

Melinda Mills, Nicola Barban, Harold Snieder, Marcel den Hoed and colleagues perform a meta-analysis of data from over 300,000 individuals for age at first birth and number of children ever born. They identify 12 significant loci that associate with these traits, providing insights into the genetic basis of human reproductive behavior.

Gravitationally magnified images of a faint galaxy from only 500 million years after the Big Bang suggest that galaxies of that age may be the dominant source of the radiation responsible for the re-ionization of the intergalactic medium.

Dry-season climate variability is a primary driver of tropical tree growth, according to observations from a pantropical tree-ring network.

Cognitive performance is impaired after prolonged wakefulness, yet the contribution of circadian rhythms for proper brain function remains unclear. Here the authors show that cortical excitability measured using TMS exhibits robust circadian dynamics which is correlated with cognitive performance.

Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

Gene discovery and polygenic predictions from a genome-wide association study of educational attainment in 1.1 million individuals.

The Amazon rainforest is dominated by relatively few tree species, yet the degree to which this hyperdominance influences carbon cycling remains unknown. Here, the authors analyse 530 forest plots and show that ∼1% of species are responsible for 50% of the aboveground carbon storage and productivity.

Vaccari et al. report that SIV vaccines formulated with two different adjuvants elicit distinct immune responses and effects on SIV acquisition in rhesus macaques.

Sekar Kathiresan et al. report genome-wide association studies for polygenic dyslipidemia. From a meta-analysis of seven genome-wide association studies and follow-up in five replication studies, they identify 11 new genetic associations for LDL cholesterol, HDL cholesterol and triglycerides.

Paul Brennan and colleagues report a genome-wide association study for lung cancer susceptibility. In addition to a previously reported variant at 15q25, they detect and replicate a new association at 5p15.33.

The authors pooled resources to identify best practices and develop a new standardized protocol for estimating functional connectivity in rats with magnetic resonance imaging.

In biological systems, controlled molecular motion along a particular path is realized by protein motors that travel along microtubule filaments. Now, control of motion with light has been achieved in a synthetic supramolecular system, in which anionic porphyrin molecules move along the fibres of a bis-imidazolium gel upon irradiation.