Search

In a meta-analysis of 48 randomized trials of chronic kidney disease progression, reduction in the 6-month urinary albumin:creatinine ratio was associated with lower hazard ratios of established kidney disease endpoints, supporting the use of albuminuria change as a surrogate endpoint in clinical trials for chronic kidney disease.

Simultaneous observations of TRAPPIST-1 b from JWST at 12.8 and 15 μm indicate that it is probably a bare rock with a mineral-rich surface. However, an alternative scenario with a CO₂-rich atmosphere and hazes could also explain the observations.

Sea level fall with the growth of the Antarctic Ice Sheet 34 million years ago, and the shift in nutrients and carbon from continental margins to the ocean, initially provided a negative feedback that slowed global cooling and ice sheet expansion.

Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

In cancer many gene variants may contribute to disease etiology, but the impact of a given gene variant may have varied effect size. Here, the authors analyse summary statistics of genome-wide association studies from fourteen cancers, and show the utility of polygenic risk scores may vary depending on cancer type.

Whole-genome sequencing and phenotype data sharing are introduced in a national health system to streamline diagnosis and to discover coding and non-coding variants that cause rare diseases.

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Experimental measurements of high-order out-of-time-order correlators on a superconducting quantum processor show that these correlators remain highly sensitive to the quantum many-body dynamics in quantum computers at long timescales.

Testicular germ cell tumors are highly heritable, and the authors present the largest genome association study, identifying 22 novel loci, which account for a third of those identified to date. Implicated pathways include male germ cell development and differentiation, and chromosomal segregation.

Observations from the James Webb Space Telescope suggest that the exoplanet TRAPPIST-1 b has little or no planetary atmosphere and no detectable atmospheric absorption of carbon dioxide.

The JWST MIRI transmission spectrum of WASP-107b, a transiting planet with Neptune-like mass and Jupiter-like radius, shows observations of sulfur dioxide and silicate clouds but no methane in its atmosphere, providing evidence of disequilibrium chemistry and active photochemistry.

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

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.

ADAR enzymes edit double-stranded RNA, converting adenosines to inosines, and are essential for neuronal function. Eggingtonet al. quantify edit sites in RNA using a Sanger sequencing protocol and use the resulting data to develop algorithms to predict RNA edit sites.

A meta-analysis of individual-level patient data from 66 clinical studies supports the utility of glomerular filtration rate as a surrogate endpoint in clinical trials for chronic kidney disease, with potential to enable detection of events earlier in the disease course.

Reduced glomerular filtration rate (eGFR) is a hallmark of chronic kidney disease. Here, Pattaro et al. conduct a meta-analysis to discover several new loci associated with variation in eGFR and find that genes associated with eGFR loci often encode proteins potentially related to kidney development.

Pathogenic autoreactive antibodies associated with severe COVID-19 can be identified via self-assembled genome-scale libraries of full-length proteins covalently coupled to uniquely identifying DNA barcodes for analysis by sequencing.

The Paleocene-Eocene Thermal Maximum constitutes one of the largest climate perturbations in Earth’s history, but its exact causes are not well known. New estimates of greenhouse gas fluxes from the North Atlantic Igneous Province at high temporal resolution show that they could have initiated this event.

A combination of three monoclonal antibodies transiently reduced viremia in people living with HIV-1 and not on antiretroviral therapy, but it did not prevent viral rebound. Further studies are needed to determine if this approach can be optimized.

The Cancer Genome Atlas consortium reports on their genome-wide characterization of somatic alterations in colorectal cancer; in addition to revealing a remarkably consistent pattern of genomic alteration, with 24 genes being significantly mutated, the study identifies new targets for therapeutic intervention and suggests an important role for MYC-directed transcriptional activation and repression.

Comprehensive analyses of 178 lung squamous cell carcinomas by The Cancer Genome Atlas project show that the tumour type is characterized by complex genomic alterations, with statistically recurrent mutations in 11 genes, including TP53 in nearly all samples; a potential therapeutic target is identified in most of the samples studied.

Katherine Nathanson, Peter Kanetsky and colleagues present a meta-analysis of five genome-wide association studies of testicular germ cell tumor (TGCT). They identify eight new susceptibility loci and new independent signals at two previously reported loci, providing further clues to the etiology of TGCT.

Roger Milne and colleagues conduct a genome-wide association study for estrogen receptor (ER)-negative breast cancer combined with BRCA1 mutation carriers in a large cohort. They identify ten new risk variants and find high genetic correlation between breast cancer risk for BRCA1 mutation carriers and risk of ER-negative breast cancer in the general population.

The signalling pathway by which ER damage triggers apoptosis remains unclear. Oakes and colleagues identify CT10-regulated kinase (CRK) as a pro-apoptotic protein induced by ER stress. Such stress leads to the accumulation of cleaved CRK fragments at mitochondria, sensitizing them to cytochrome c release in a cell-free system.

The authors of this Perspectives article describe the physiological and statistical principles underlying measured glomerular filtration rate (mGFR) and estimated glomerular filtration rate (eGFR). They discuss their limitations, the circumstances under which mGFR and eGFR should be used, and approaches to improve these methodologies.

Addressing the ethical, legal and social implications of nanotechnology will help to reverse the fragmentation of academic fields into multiple subdisciplines, end the artificial separation between pure and applied research, and bridge the gap between science and the society it serves, as well as helping to avoid a possible public backlash.