A cellular disease model toward gene therapy of -dependent lamellar ichthyosis.

Lamellar ichthyosis (LI) is a chronic disease, mostly caused by mutations in the gene, marked by impaired skin barrier formation. No definitive therapies are available, and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopathological features of human skin conditions.

Safety and efficacy studies of CRISPR-Cas9 treatment of sickle cell disease highlights disease-specific responses.

Fetal hemoglobin (HbF) reactivation expression through CRISPR-Cas9 is a promising strategy for the treatment of sickle cell disease (SCD). Here, we describe a genome editing strategy leading to reactivation of HbF expression by targeting the binding sites (BSs) for the lymphoma-related factor (LRF) repressor in the γ-globin promoters. CRISPR-Cas9 treatment in healthy donor (HD) and patient-derived HSPCs resulted in a high frequency of LRF BS disruption and potent HbF synthesis in their erythroid progeny.

Child eating behaviors are consistently linked to intake across meals that vary in portion size.

Prior studies evaluating a single meal in children characterized an "obesogenic" style of eating marked by larger bites and faster eating. It is unclear if this style is consistent across portion sizes within children so we examined eating behaviors in 91 children (7-8 years, 45 F) without obesity (BMI<90th percentile). Children consumed 4 ad libitum meals in the laboratory consisting of chicken nuggets, macaroni, grapes, and broccoli that varied in portion size (100%, 133%, 166%, 200%) with a maximum of 30 min allotted per meal.

N2FXm, a method for joint nuclear and cytoplasmic volume measurements, unravels the osmo-mechanical regulation of nuclear volume in mammalian cells.

In eukaryotes, cytoplasmic and nuclear volumes are tightly regulated to ensure proper cell homeostasis. However, current methods to measure cytoplasmic and nuclear volumes, including confocal 3D reconstruction, have limitations, such as relying on two-dimensional projections or poor vertical resolution. Here, to overcome these limitations, we describe a method, N2FXm, to jointly measure cytoplasmic and nuclear volumes in single cultured adhering human cells, in real time, and across cell cycles.

Inter-individual differences in children's short-term energy compensation: a systematic review and meta-analysis.

Background: The ability to regulate energy intake is often assessed using a preloading paradigm to measure short-term energy compensation. In children, large variability exists with this paradigm both within- and across- studies and is poorly understood.

Objectives: This systematic review and meta-analysis aimed to better understand factors contributing to variability in children's energy compensation.