Search

De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

How landscapes are arranged affects soil pathogenic fungi worldwide. The authors reveal the global pattern and pronounced scale-dependency of landscape complexity and land-cover quantity on soil pathogenic fungal diversity.

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Here the authors apply machine learning approaches to Alzheimer’s genetics, confirm known associations and suggest novel risk loci. These methods demonstrate predictive power comparable to traditional approaches, while also offering potential new insights beyond standard genetic analyses.

A comparison of alpha diversity (number of plant species) and dark diversity (species that are currently absent from a site despite being ecologically suitable) demonstrates the negative effects of regional-scale anthropogenic activity on plant diversity.

Known genetic loci account for only a fraction of the genetic contribution to Alzheimer’s disease. Here, the authors have performed a large genome-wide meta-analysis comprising 409,435 individuals to discover 6 new loci and demonstrate the efficacy of an Alzheimer’s disease polygenic risk score.

Polygenic risk scores for Alzheimer’s disease derived from individuals of European ancestry can show improved performance in multiancestry settings after incorporating genome-wide association summary statistics from diverse populations.

Petrels are wide-ranging, highly threatened seabirds that often ingest plastic. This study used tracking data for 7,137 petrels of 77 species to map global exposure risk and compare regions, species, and populations. The results show higher exposure risk for threatened species and stress the need for international cooperation to tackle marine litter.

Extensive characterization of the stem and progenitor cell hierarchies of myelodysplastic syndromes reveals compensatory survival mechanisms underpinning the failure of hypomethylating agents, and uncovers biomarkers that predict second-line clinical response to venetoclax-based therapy.

African Americans have an elevated risk of developing chronic kidney disease, yet only a fraction of those with high-risk genotypes develop the disease. Here, the authors show that a missense variant in APOL1 has a strong protective effect when co-inherited with the high-risk G2 allele of APOL1, with important implications for clinical practice and translational research.

Genome-wide data from 400 individuals indicate that the initial spread of the Beaker archaeological complex between Iberia and central Europe was propelled by cultural diffusion, but that its spread into Britain involved a large-scale migration that permanently replaced about ninety per cent of the ancestry in the previously resident population.

Nutritional stress induced by short-term dietary restriction has been shown to alter the activity of some anti-tumour drugs. Here, the authors demonstrate that periodic fasting enhances the anti-tumour effect of cholesterol biosynthesis inhibitors via decreased AKT-STAT3 signaling and oxidative phosphorylation.

Time-resolved in situ (TRIS) X-ray powder diffraction promises great potential to study mechanochemical processes. Here, the authors develop a strategy to enhance the resolution of TRIS experiments to allow deeper interpretation of mechanochemical transformations; the method is applied to a variety of model systems including inorganic, metal-organic, and organic mechanosyntheses.

The authors have developed a new inhibitor of the enzyme that degrades the endocannabinoid anandamide. This new drug does not cross the blood-brain barrier. It elevates peripheral anandamide only, which, acting on peripheral CB1 receptors, attenuates pain responses in rodents.

Here, the authors have performed a multi-population GWAS meta-analysis of pediatric steroid sensitive nephrotic syndrome cases to discover 12 loci (4 novel), fine-map HLA, implicate kidney and immune factors, and associate the polygenic risk score with earlier disease onset.

Genome-wide association analyses identify 30 risk loci for IgA nephropathy. Functional annotations of putative causal genes converge on inflammatory signaling pathways and cytokine ligand–receptor pairs, prioritizing potential new drug targets.

Genome-wide analysis of copy number variants in 2,824 cases across the phenotypic spectrum of CAKUT sheds light on the genomic architecture of disease and identifies TBX6 as a driver for CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Modelled supply curves show that, with policy reform and technological innovation, the production of food from the sea may increase sustainably, perhaps supplying 25% of the increase in demand for meat products by 2050.

Michael Seldin and colleagues report a genome-wide association study and meta-analyses for primary biliary cirrhosis. They identify three loci newly associated with susceptibility to this autoimmune liver disease.

After its release, the endocannabinoid anandamide is taken up from the synaptic cleft by internalization by neurons and astrocytes. Although several lines of evidence suggest that the anandamide uptake itself is a carrier-mediated diffusion process, the molecular identity of the transporter was unknown until now. Here Fu et al. show that anandamide uptake is mediated by a novel protein named FAAH-like anandamide transporter (FLAT) that is generated as an alternative splicing product of the fatty acid amide hydrolase-1 (Faah) mRNA.

Wise management is critical to sustaining fisheries. This study finds that rebuilding plans, ratification of international agreements and harvest control rules yield strong benefits and that these are cumulative.

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.

A study aimed at revealing the role of small-scale fisheries in sustainable development shows they provide at least 40% of the global fishing catch and affect the livelihoods of 1 in 12 people in the world, among other important contributions.

Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2, ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and provide additional evidence that the microglia-mediated immune response contributes to the development of Alzheimer's disease.

In this Review, the authors summarize the genetic factors associated with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). They describe the findings from genetic association studies, their pathogenic significance and their implications for the classification, management and prognosis of AAV.

Current approaches to rehabiliation of motor and language function after stroke focus on compensation rather than repair of the underlying damage, often with limited clinical benefit. Here, Steven Small and colleagues propose a new model for poststroke therapy that aims to rebuild brain circuits underlying the impaired functional domains. They describe experience with action observation therapy, which harnesses the putative mirror neuron system in humans to improve motor performance and language skills.

Addressing the burden of non-communicable diseases is a global public health priority. In this joint Consensus Statement, the American Society of Nephrology, the European Renal Association and the International Society of Nephrology highlight the need to recognize kidney disease as a key driver of premature mortality, in addition to other non-communicable diseases already prioritized by the World Health Organization.