'One of the great unresolved embarrassments of physics': It's been 340 years since Newton and scientists still haven't solved the secret of gravity - Space

AbstractCornelia de Lange syndrome (CdLS) is a rare congenital disorder characterised by craniofacial features, growth retardation, limb anomalies, and intellectual disability. The condition arises from pathogenic variants in genes encoding cohesin complex components or regulators, most frequently NIPBL. Despite advances in genomic testing, approximately 30% of clinically diagnosed cases remain unresolved, suggesting the presence of non-coding variants. We investigated 10 classical CdLS patients negative for pathogenic variants in NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Genome-wide methylation profiling was performed to identify CdLS-specific epigenetic signatures. Episignature-positive cases underwent trio-based deep sequencing of the entire NIPBL locus while targeted NIPBL RNA sequencing was used to assess splicing. Whole-genome sequencing (WGS) was performed in episignature-negative individuals. Five of ten patients exhibited a positive CdLS episignature in blood, saliva, or skin. Deep sequencing identified de novo deep intronic NIPBL variants in all cases, and two additional variants in episignature-negative patients.

Gravity is best known as the force that pulls objects toward Earth, but its role extends far beyond falling apples. Across the universe, gravity acts as an invisible framework that influences how galaxies, galaxy clusters, and the largest cosmic structures form and evolve. For decades, however, astronomers have faced observations that do not seem to fit neatly with what can be seen. Some stars and galaxies move much faster than their visible mass appears capable of explaining. That mystery has led cosmologists such as University of Pennsylvania researcher Patricio A. Gallardo to investigate whether the laws of gravity established by Isaac Newton and Albert Einstein remain valid everywhere in the universe.

Experience sub-500 nm O-PTIR featuring integrated fluorescence and simultaneous Raman spectroscopy with the mIRage-LS, a global first in microscopy systems. Fluorescence microscopy and O-PTIR spectroscopy with submicron resolution positioned together