Search

Analysis of whole-genome sequencing data from hematopoietic stem and progenitor cells taken from patients with myeloma shows how treatment shapes clonal architecture and sheds light on the evolution of treatment-related myeloid neoplasms.

Understanding the evolution of a tumor is important for predicting its resistance to treatment. This paper presents a new computational method, COMPASS, for inferring the joint phylogeny of single nucleotide variants and copy number alterations from targeted scDNAseq data.

Myeloid malignancies vary significantly in their clinical outcomes and their genetic background. Here, the authors develop a network-based clustering method to predict subgroups of malignancies across disease subtypes.

In the formation of physical hydrogels from triblock copolymers, formation of polymer loops can result in topological defects. Here, the authors report the development of hydrogels from oppositely charged copolymers which assembled to form branched and bridge-rich networks.

A genome-wide association study highlights a variant in DOCK2, which is common in East Asian populations but rare in Europeans, as a host genetic risk factor for severe COVID-19.

Authors present results from a national surveillance in Japan that found MRSA strains causing bloodstream infections are predominantly from three clonal lineages. They also identified the emergence of highest 30-day-mortality MRSA clone ST764-SCCmecII and traced its evolutionary path.

Clinical decision-making regarding treatments based on personal characteristics leads to effective health improvements. Here, the authors introduce a modeling framework to evaluate the actionability of treatment pathways.

Relationship between Lifestyle and Blood Pressure Levels in Japanese High School Students. Hypertensive students had shorter sleep durations; systolic blood pressure levels were associated with BMI and male sex, and diastolic blood pressure levels were linked to sugar intake and female sex. BMI, body mass index; HT, hypertension.

Analysis of the blood DNA virome in patients with COVID-19 and autoimmune disease associates endogenous HHV-6 (eHHV-6) and high anellovirus load with increased disease risk, most notably for systemic lupus erythematosus. eHHV-6 carriers show a distinct immune response.

The famous Fulde–Ferrell–Larkin– Ovchinnikov (FFLO) state is a spatially-modulated superconducting state with a predicted spatial anisotropy, but this anisotropy has never been experimentally verified. Here, the authors present ultrasound evidence for anisotropy of the sound velocity in the FFLO state of a 2D organic superconductor.

PAX6-dependent epithelial differentiation and developmental trajectories of the ocular surface are elucidated through single-cell RNA sequencing of hiPSC-derived ocular organoids.

A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.

Idiopathic multicentric Castleman disease (CD) is a rare and potentially fatal lymphoproliferative disorder. Authors here establish a mouse xenotransplantation model of the “not otherwise specified” subtype of the disease and show that the chemokine CXCL13 plays a pivotal role in the pathogenesis and likely produced by peripheral helper cells, which expand upon engraftment.

Mechanisms of acquired resistance to RET tyrosine kinase inhibitors in lung cancers are largely unknown. Here, the authors report in a lung adenocarcinoma patient harboring a CCDC6-RET mutation in the RET kinase (S904F) that results in resistance to the kinase inhibitor vandetanib by increasing the ATP affinity and autophosphorylation activity of RET kinase.

Atopic dermatitis is an inflammatory skin disease featuring systemic involvement. Here authors show that the two major clinical manifestations of the disease, erythema and papulation, are distinguished by differential interplay between local skin and systemic immunity, uncovered by integrated transcriptomics.

Whole-transcriptome sequencing of a subset of 75 non-small-cell lung cancer specimens in a multi-institutional genome screening study identified a fusion of the CLIP1 and LTK genes with transformational potential due to constitutive LTK kinase activity.

The development of tissue-engineered vascular grafts heavily relies on the availability of large animal models that allow long-term assessment of graft patency. Here Itoh et al. propose a novel model of immunodeficient pigs that allows long-term accommodation of human cell-derived three-dimensional bioprinted vascular tubes.

A genome-wide association study (GWAS) of 58 traits using data from the Biobank Japan Project identifies 1,407 loci, 679 of which are novel. Comparison with disease GWASs and analysis of genetic correlations and cell-type enrichment show that these clinical measurements are relevant to human disease.

Six transmembrane epithelial antigen of the prostate 1 (STEAP1) is a highly enriched cell surface antigen expressed in prostate cancer. Here the authors describe the design of STEAP1 directed CART cells and show their antitumor activity in preclinical models of prostate cancer, also in combination with a collagen binding domain-IL-12 fusion cytokine.

Locating food sources is essential for the survival of animals. Here, the authors identify two functionally and anatomically distinct classes of sweet taste receptor neurons in Drosophila legs, involved in feeding initiation and sugar-dependent suppression of locomotion.

SBS leads to severe morbidity and mortality. Here, using a xenotransplantation model, the authors uncover the role of zinc transport pathways in intestinal adaptation in SBS, highlighting the potential of zinc supplementation as a therapeutic approach.

Immune checkpoint blockade (ICB) benefits esophageal squamous cell cancer, but the immune cell mediators remain unclear. Here the author show, by imaging mass cytometry, that CD39⁺CD8⁺ exhausted cells are present abundantly in both tertiary lymphoid tissue and tumor and correlate with responses to ICB.

CD8 + T cells play an important role in primary biliary cholangitis (PBC). In this study, the authors demonstrate that PD-1-expressing CD8+ liver-resident T cells are pathogenic in murine PBC and that targeting these cells using a chimaeric antigen receptor reduces disease severity.

Clear electronic transport signatures of topological nodal-line semimetals have been lacking due to their complex electronic structure and the presence of topologically trivial states. Kim et al. demonstrate that the quantum transport response in slightly hole-doped SrAs3 is dominated by nodal-line fermions.

T cell clonal anergy is mediated by Egr2 but its downstream effectors have not been characterized. Here the authors show that Egr2 activates Ndrg1, which is critical for the anergy state, while anergy-counteracting signals IL-2 or CD-28 promote Ndrg1 phosphorylation and degradation.

Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, the authors perform discovery GWAS for BP in East Asians and meta-analysis in East Asians and Europeans and report ancestry-specific BP SNPs and selection signals.

In a pre-specified secondary analysis of the SELECT trial, once-weekly subcutaneous semaglutide 2.4 mg in patients with obesity was associated with a 22% reduction in the main 5-component kidney composite endpoint compared to patients on placebo.

The actin regulator CapZIP has been shown to regulate ciliogenesis in a phosphorylation-dependent manner. Miyatake et al.show that the atypical MAP kinase ERK7 promotes ciliogenesis by phophorylating CapZIP, and that interactions between both proteins and Dishevelled are required for CapZIP phosphorylation.

Prolonged NOD2 ligand engagement induces tolerance and attenuated NOD2 signalling, but the molecular mechanisms leading to this tolerance induction are unclear. Here the authors show that the degradation of a NOD2 adaptor, RIP2, by the E3 ligase ZNRF4 is essential for the down-regulation of NOD2 signalling.

Understanding the evolutionary trajectory of cancer samples may enable understanding resistance to treatment. Here, the authors used single cell sequencing of a cohort of acute myeloid leukemia tumours and identify features of linear and branching evolution in tumours.

A multi-ancestry genome-wide association study of prostate cancer performed in 156,319 cases and 788,443 controls identifies 187 novel risk variants associated with the disease. Genetic risk scores associated with overall risk, and risk of aggressive disease in men of African ancestry.

Sequencing of the MHC region in the Japanese population provides insight into population-specific allelic and structural variability. These data enable discovery and fine-mapping of genotype–phenotype associations across 52 phenotypes.