Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.

Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals.

A tunable affinity fusion tag for protein self-assembly.

The concentrations of individual proteins vary between cells, both developmentally and stochastically. The functional consequences of this variation remain largely unexplored due to limited experimental tools to manipulate the relationship of protein concentration to activity. Here, we introduce a genetically encoded tool based on a tunable amyloid that enables precise control of protein concentration thresholds in cells.

Editorial for the Special Issue on Micromachined Acoustic Transducers for Audio-Frequency Range.

Microelectromechanical systems (MEMS) refer to miniaturized mechanical and electro-mechanical elements that are fabricated through microelectronic processes [...

Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition requiring daily medication(s) and attention to details. In addition to daily medications and regular visits with healthcare providers, families may live with perpetual angst regarding unpredictable occurrences of acute adrenal insufficiency. Despite numerous barriers and challenges imposed by this chronic condition, caregivers and healthcare professionals can empower our patients to achieve a good quality of life.

Prenatal Corticosterone Impacts Nestling Condition and Immunity in Eastern Bluebirds.

Exposure of avian mothers to stressful conditions permanently alters offspring behavior and physiology. Yet, the effects of maternal stress on the development of offspring immunity in birds remain unclear, particularly in wild species. We injected Eastern bluebird (Sialia sialis) eggs with either a corticosterone or control solution, then measured the impacts on nestling morphology and two measures of immunity, bactericidal capacity and swelling responses to phytohemagglutinin.