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Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”

To find materials with large anomalous Nernst coefficients, which is useful for energy harvesting, it is common to focus on materials with large anomalous Hall coefficients. Here, Gong et al. find a material where the anomalous Nernst effect does not show the same antisymmetric behaviour as the anomalous Hall effect.

The nuclear receptor PPARγ regulates insulin sensitivity and is the molecular target of anti-diabetic drugs. Here, Hughes et al. show demonstrate binding of synthetic PPARγ agonists to a previously unknown binding site within PPARγ and show this affects structure and function of the receptor.

This work systematically investigates the effect of hydrazone linkage density in covalent organic frameworks on the enhancement of photocatalytic hydrogen peroxide generation, with the aim of achieving high-performance photocatalysis.

The authors propose a method for de-scanning the axial focus movement in the detection arm of a fluorescence microscope, enabling aberration-free, multi-color, volumetric imaging. They acquire dual-colour image stacks with an axial range of 70 μm and camera-limited acquisition speed.

Taxonomical complexity has muddled the classification of clinically relevant Enterobacter species. Authors carry out a genome-based study on clinical isolates to investigate colistin resistance and heteroresistance in Enterobacter.

A multi-modal analysis of pre-metastatic liver biopsies from patients with localized pancreatic cancer with a minimum of 3 years of follow-up shows that immunological, proliferative and metabolomic features distinguish patients who develop metastases from disease-free survivors and can be used to predict outcomes.

A millihertz frequency X-ray quasi-periodic oscillation has been observed near the innermost orbit of an actively accreting supermassive black hole and its frequency has evolved significantly over 2 years, a phenomenon that is difficult to explain with existing models.

The detection and modelling of nine X-ray quasi-periodic eruptions from a nearby tidal disruption event shows that these eruptions arise in accretion disks around massive black holes, left behind by tidally disrupted stars, and that an orbiting body colliding with this disk is a plausible explanation for the X-ray variability.

Histomorphological phenotype clustering (HPC) is a self-supervised machine learning methodology enabling automatic feature extraction from whole slide images (WSI) in pathology. Here, the authors demonstrate the utility of this approach in colon adenocarcinoma WSIs and investigate the links between the HPCs and patient outcomes.

In this phase 1 trial, Hegde et al. treat 13 individuals with advanced sarcoma with lymphodepletion followed by HER2-specific CAR T cells, which were found to be safe and showed antitumor activity.

NEIL2, a mammalian DNA repair enzyme, has been reported to suppress infection induced inflammation. Here, the authors characterize its role in modulating the severity of SARS-CoV-2 infection.

Bacteria and viruses are simultaneously quantified in gut metagenomic samples.

Entanglement was observed in top–antitop quark events by the ATLAS experiment produced at the Large Hadron Collider at CERN using a proton–proton collision dataset with a centre-of-mass energy of √s  = 13 TeV and an integrated luminosity of 140 fb⁻¹.

Chemically driven blockade of PU.1 binding sites leads to its genome-wide redistribution. PU.1 network rewiring causes human acute myeloid leukemia cells to differentiate.

Anti-EGFR therapy plus doublet chemotherapy is standard of care for patients with RAS wild-type metastatic colorectal cancer (mCRC) but the role of triplet chemotherapy is unclear. Here, the authors report a randomised phase 2 trial testing the superiority of adding cetuximab (anti-EGFR) over bevacizumab (anti-VEGF) to modified FOLFOXIRI (5-FU, leucovorin, oxaliplatin and irinotecan) in patients with RAS wild-type mCRC.

The organisation of mammalian genomes plays a role in many biological processes. Here the authors report dcHiC, a tool which uses a multivariate distance measure to identify changes in compartmentalisation among multiple genome-wide chromatin contact maps, and apply this to different human and mouse datasets.

Rational design has endowed self-assembling peptides with structural similarities to natural materials, but recreating the dynamic functional properties inherent to natural systems remains challenging. Here the authors report the discovery of a short peptide based on the tryptophan zipper motif, that shows multiscale hierarchical ordering into hydrogels that display emergent dynamic properties.

Different sensory experiences can affect longevity in Drosophila. Here the authors find that exposure of Drosophila directly to dead conspecifics affects longevity via a serotonergic mechanism, and that Drosophila exposed to dead conspecifics also become an aversive stimulus to naïve choosers.

Using a cohort of nearly 1,000 genetically diverse mice undergoing dietary restriction over the lifespan, the authors reveal numerous insights into the interactions between the gut microbiome, host genome, diet, health and longevity.

Listeria monocytogenes isolates are highly heterogeneous and exhibit different levels of virulence. Here, the authors identify hypervirulent isolates that represent a hybrid sub-lineage of the major lineage II harbouring virulence factors from Listeria ivanovii and wall teichoic acids found in major lineage I.

Quantum biological electron transfer has potential in diagnostic and therapeutic settings. Here the authors report the triggered apoptosis of cancer cells using electricical input to wirelessly induce redox interactions at bio-nanoantennae in proximity to cancer cells.

AI tools are increasingly used for important decisions, but they can be uncertain about specific individuals or groups. Chakraborty et al. discuss the need for better methods to assess uncertainty in high-stakes applications such as healthcare and finance, and outline a set of main challenges to provide practical guidance for AI researchers.

BRCA1/2 mutations are known to increase risk of breast and ovarian cancer but carrier status in healthy individuals is unknown without genetic testing. Here, the authors created a circulating miRNA signature to predict BRCA1/2 carrier status in healthy individuals to aid the decision process on genetic testing.

Disruption of MLL3/4 enzymatic activities prevents gastrulation and leads to early embryonic lethality in mice. This is largely due to defects in extraembryonic lineages, which compromise developmental progression.

A diode effect—asymmetric transport depending on its direction—is shown in the proximity-induced superconducting state of a Dirac semimetal.

Ependymoma is a tumor of the brain or spinal cord with the two most common and aggressive types mainly occurring in children. Here the authors employ 3D genomics and epigenomics to reveal targets for aggressive ependymoma tumors in children.

Peroxisome proliferator-activated receptor gamma (PPARγ) is a target for insulin sensitizing drugs. Here the authors combine NMR, X-ray crystallography and MD simulations and report a structural mechanism for eliciting PPARγ inverse agonism, where coactivator binding is inhibited and corepressor binding promoted, which causes PPARγ repression.

Dimethyl fumarate (DMF) is an anti-inflammatory drug proposed as a treatment for COVID19. Here the results are reported from a randomised trial testing DMF treatment in 713 patients hospitalised with COVID-19. DMF was not associated with any improvement in day 5 outcomes.

Infection with SARS-CoV2 and the development of Coronavirus disease 2019 (COVID-19) has been linked to induction of autoimmunity and autoantibody production. Here the authors characterise the new-onset IgG autoantibody response in hospitalised patients with COVID-19 which they correlate to the magnitude of the SARS-CoV2 response.

Senescence of hematopoietic progenitor cells, enforced by the BRAF^V600E mutation, underlies the development of Langerhans cell histiocytosis and could be a new target for drug development and therapy of this disease in patients.

Different processes are in place to facilitate RNA-Polymerase 2 (Pol2) binding to chromatin. Here the authors reveal that the fusion transcription factor PAX3-FOXO1 shapes RNA Pol2 enhancer loops by recruitment of the histone acetyltransferase p300 via a small alpha-helical hook in its activation domain. Degradation of PAX3-FOXO1 or p300 rapidly collapses Pol2 clusters.

Reversible DNA inversions found entirely within genes enable increased coding capacity by encoding multiple versions of a protein in bacteria and archaea.

COVID-19 is often characterized by a hyperinflammatory syndrome. Wang and colleagues show that low levels of IgG fucosylation enhance interactions with activating Fcγ receptors, boosting the inflammatory cytokines associated with severe COVID-19.