Search

Understanding the underlying pathophysiology of obesity can help prevent this condition. Here, the authors perform a GWAS of BMI in diverse ancestries, finding four missense variants in FRS3 that affect BMI.

Solid-state nanopores can be used to directly observe individual knots in linear and circular DNA molecules of arbitrary length, and to determine the knot's size, position, and probability of occurrence as a function of DNA length.

In thin film devices, ferromagnetic layers may couple indirectly over short length scales via induced magnetization in otherwise non-magnetic spacers. Here, the authors demonstrate a long range exchange coupling across a paramagnetic layer.

Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

The primary somatosensory cortex and central nucleus of the amygdala project to the spleen via the dorsal motor nucleus of the vagus nerve and regulate the T helper 2 (T_H2) immune cell response in models of neuropathic pain.

Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

The bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

Timing of assisted reproduction technology (ART) procedures coincides with extensive epigenetic remodeling early after conception. Here the authors identify 176 DNA methylation differences in cord blood of newborns conceived with ART. including genes related to growth, neurodevelopment, and cancer.

This study assessed COVID-19 social science preprints’ replicability using structured groups. Both beginners and more-experienced participants used a elicitation protocol to make better-than-chance predictions about the reliability of research claims under high uncertainty.

In addition to serotonin neurons, the dorsal raphe nucleus (DR) also contains dopamine, glutamate, and GABA neurons. Here, the authors systematically compare the neurochemical identity, cell type specificity, anatomical distribution, and connectivity of DR cells targeted by commonly used Cre lines.

Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

The BRAIN Initiative Cell Census Network has constructed a multimodal cell census and atlas of the mammalian primary motor cortex in a landmark effort towards understanding brain cell-type diversity, neural circuit organization and brain function.

The authors study the dynamics of 80 nm-size skyrmions in a 100 nm-wide track by electrical Lorentz transmission electron microscopy. They show that the skyrmions can be moved by nanosecond current pulse without experiencing the skyrmion Hall effect.

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.

In mouse and nonhuman primate models, treatment with selective, long-acting neurokinin 2 receptor agonists aids weight loss by suppressing appetite and increasing energy expenditure, as well as by increasing insulin sensitivity.

The underlying causes of neonatal jaundice are not well understood. Here, the authors identify genetic variants associated with neonatal jaundice, including a variant in the gene UGT1A, finding a distinct genetic basis from adult bilirubin levels.

Using an innovative method, the mass of a pulsar can be constrained using the maximum ‘glitch’ in the star’s rotational frequency: the bigger the glitch, the lower the mass. This method is used to estimate the mass of all observed glitchers.

Multi-ancestry genome-wide analyses identify 95 loci associated with post-traumatic stress disorder and implicate candidate genes, pathways and neurobiological systems underlying its pathophysiology.

Although genome-wide association studies have identified genetic variation contributing to disease risk, assigning causal genes is challenging. Here, the authors generate ATAC-seq, Hi-C, Capture Hi-C and RNA-seq data in stimulated CD4+ T cells to identify functional enhancers and demonstrate interactions of expression quantitative trait loci with target genes in rheumatoid arthritis.

A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.

One of the advantages that it is hoped quantum computers will have over classical computers is their ability to accurately simulate quantum phenomena. Silveri et al.take a step towards this goal by simulating so-called motional averaging in an artificial atom realized by a superconducting quantum bit.

Despite their discovery in the 19th century, the islands of Calleja, clusters of densely packed granule cells in the ventral striatum, remain enigmatic. This study reveals that islands of Calleja neurons are critical for grooming control in mice.

Mitochondria modulate both normal and premature aging, yet if primary oxidative phosphorylation deficiency can cause progeria has been unclear. Here, the authors show that mice with severe isolated respiratory complex III deficiency display cellular senescence and juvenile-onset segmental progeria.

Quantum turbulence typically entails reconnecting quantized vortices as seen in quantum fluids. Experiments with superfluid helium now show turbulent dynamics with negligible vortex reconnection, a regime dominated by interacting vortex waves at all length scales.

Precision laser spectroscopy measurements of neutron-rich indium isotopes were performed to investigate the validity and identify limitations of theoretical descriptions of nuclei based on simple single-particle approaches.

A difference in the survival of respiratory chain complex III deficient Bcs1l^p.S78G mice was observed between two congenic mouse strains. Here the authors show how in one of the strains the combined effects of a spontaneously arising non-pathogenic variant and the disease-causing Bcs1l^p.S78G mutation exacerbate CIII deficiency and disease progression.

A double-transgenic mouse model that enables monitoring or manipulation of dopamine and serotonin simultaneously in the brain’s nucleus accumbens shows that these neuromodulators have opponent roles in reward learning.

The long-spined sea urchin has colonized areas along the Tasmanian coast owing to climate-induced changes in ocean currents, forming barrens that threaten marine species. This study shows how a government-supported strategy of overfishing this sea urchin could help conservation and fisheries outcomes.