Search

Different types of SETBP1 variants cause variable developmental syndromes with only partial clinical and functional overlaps. Here, the authors report that SETBP1 variants outside the degron region impair DNA-binding, transcription, and neuronal differentiation capacity and morphologies.

Toxoplasma gondii forms membrane contact sites with the endoplasmic reticulum of the host cell to facilitate the transfer of biomolecules to its vacuole.

Mutation of conserved prolines enhances correct pairing of light and heavy chains for bispecific IgG-like antibody production.

Viruses such as coxsackievirus B (CVB) have been associated with type I diabetes (T1D) and islet destruction. Here the authors show that Yes-associated protein (YAP) is upregulated in the whole pancreas in T1D and at-risk autoantibody (AAb + ) organ donors and that YAP over-expression enhances CVB replication, islet inflammation and β-cell apoptosis and suggest exocrine-islet-immune interactions as targeted interventions for T1D.

Glioblastoma—the deadliest form of brain cancer—alters the calvarial bone and its marrow components, pushing it toward producing more myeloid cells and contributing to an immunosuppressive environment.

Native state proteomics of PV interneurons revealed unique molecular features of high translational and metabolic activity, and enrichment of Alzheimer’s risk genes. Early amyloid pathology exerted unique effects on mitochondria, mTOR signaling and neurotransmission in PV neurons.

Plasma proteomic analysis of presymptomatic individuals with amyotrophic lateral sclerosis identifies novel disease-associated proteins and enables the development of an accurate diagnostic biomarker panel.

Chronic care manages long-term, progressive conditions, while acute care handles short-term ones. Here, authors show chronic conditions account for most of the global health burden, with 68% of DALYs and 93% of YLDs attributed to chronic care needs.

Malaria control and elimination require environmentally safe strategies. Here, the authors propose L-DOPA, a naturally occurring tyrosine derivative, as a mosquito dietary intervention that can shorten lifespan and reduce malaria parasite burden of female Anopheles gambiae mosquitoes.

Cellular niches are highly heterogenous in triple negative breast cancer. Here, the authors utilise imaging mass cytometry and spatial transcriptomics to characterise the microenvironment in Black American and White American patients.

Polyneuropathy causes are difficult to pinpoint. Here, authors used single-nucleus and spatial transcriptomics of 37 human peripheral nerves to identify focal perineurial hyperplasia and endoneurial lipid-associated macrophages in polyneuropathies.

Here, using long-read RNA sequencing, SILAC proteomics, and cryo-EM, the authors show that loss of mitochondrial methylation impairs rRNA processing and ribosome maturation, leading to unprocessed rRNA accumulation and defective monosome assembly.

Excised signal circles are circular DNA by-products of V(D)J recombination that form a complex with the V(D)J recombinase, and when increased in abundance, result in increased mutagenesis, causing adverse outcomes in cancer.

This study uses whole-brain connectome analysis via functional MRI to investigate memory retrieval in individuals with post-traumatic stress disorder and its dissociative subtype, revealing distinct connectivity patterns and disruptions in subcortical–cortical integration during traumatic versus neutral memory processing.

An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Interact-omics, a high-throughput cytometry-based framework, resolves the cellular interaction landscape.

Haematopoietic stem cell numbers are restricted at both systemic and local levels.

Genomic integration of DNA templates is made more precise through microhomology-focused design.

Oxidative stress is known to play a role in lung cancer carcinogenesis with protein cysteines residues being key in redox signaling. Here, the authors discover in lung cancer patients through redox proteomics that there is a higher oxidation of the cysteines of glycolytic and methylglyoxal metabolism enzymes.

The targeted development of proteome-wide selective covalent probes remains a challenge. Here, the authors show the exploration of the natural product Sulphostin as a starting point for dipeptidyl peptidase 8 and 9 inhibitor development.

DeepRETStroke is a deep learning system using retinal photographs to detect silent brain infarction and predict future stroke events.

Here the authors show that a seekRNA derived from the non-coding region of IS1111 and IS family insertion sequences is required for insertion sequence movement from and to a specific target site. The seekRNA is bound to the transposase, recognises the target and is programmable.

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Tumour evolution and heterogeneity in high grade serous ovarian cancer (HGSOC) remains poorly characterised. Here, the authors investigate the genomic landscape of HGSOC and reveal two distinct evolutionary trajectories associated with clinical outcomes.

The authors reveal that probenecid, an FDA-approved drug, uniquely modulates TRPV2 through an intracellular pocket. Probenecid drives the channel into an activated conformation, providing insights into potential therapeutic applications.

Woldemariam et al. identify male infertility associated comorbidities using electronic health records (EHR) from the University of California. Findings, which are validated in Stanford University’s EHR, include hypothyroidism and anemia.

DNA methylation drives parental expression differences at imprinted genes. Here, the authors uncover hundreds of ubiquitous and tissue-specific differentially methylated regions, offering insights into parental regulation and disease inheritance.

Ruth Loos and colleagues report results of a large genome-wide association study for body mass index. They identify 18 new loci associated with this trait, some of which map near key hypothalamic regulators of energy balance.

A translational study demonstrates the role of myeloid inflammatory cells in driving disease progression and treatment resistance in prostate cancer and shows that these cells can be targeted therapeutically.

The identification of two cryptic species of the fungal pathogen that causes white-nose disease in bats highlights the need to integrate studies of genetic variability in pathogens into disease surveillance, management and prevention strategies.

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Chen et al. perform single-molecule imaging of translation at ribonucleoprotein (RNP) granules. They show that RNP granule surfaces are sites of nanos mRNA translation, whereas the granule interior is translationally repressive.

We know that variations in cell cycle duration between cells naturally occur but the mechanisms are largely unknown. Here, using lineage tracking, hierarchical clustering and Monte Carlo methods, the authors show that large differences in granddaughter cell cycle duration are driven by asymmetric divisions.

Transcriptomic and proteomic analyses show that high levels of the extracellular-matrix protein osteopontin are associated with the attenuated foreign-body response elicited by breast silicone implants wrapped with acellular dermal matrix.

Ruth Stephanie describes how cyclic voltammetry can be used to study new materials for battery electrodes.

A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

Dispersal is key to establishing patterns of cooperation. Here, the authors show that social organization is associated with levels of cooperation in Sino-Tibetan populations with strikingly different dispersal patterns.