Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

Gas-Phase Structures of Fucosylated Oligosaccharides: Alkali Metal and Halogen Influences.

Fucosylated carbohydrate antigens play critical roles in physiology and pathology with function linked to their structural details. However, the separation and structural characterization of isomeric fucosylated epitopes remain challenging analytically. Here, we report for the first time the influence of alkali metal cations (Li, Na, K, Rb, and Cs) and halogen anions (Cl, Br, and I) on the gas-phase conformational landscapes of common fucosylated trisaccharides (Lewis A, X, and H types 1 and 2) and tetrasaccharides (Lewis B and Y) using trapped ion mobility spectrometry coupled to mass spectrometry and theoretical calculations.

Resilience and Hassles Trajectories Among Older Adults During the COVID-19 Pandemic.

Objectives: Despite higher physical vulnerability to coronavirus disease 2019 (COVID-19), older adults reported less psychological stress than younger and midlife adults during the pandemic. However, little is known about age differences in stress within later life, and most COVID-19 studies have been cross-sectional. We examined weekly hassles exposure and severity trajectories and whether these trajectories differed by age, resilience factors (higher trait resilience and education), and vulnerability factors (identifying as a woman, being a person of color, and having chronic health conditions).