Homozygous Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder characterized by reduced or absent hair and dystrophic nails. PHNED is caused by pathogenic variants in genes involved in hair and nail development, including . Previously reported biallelic pathogenic variants led to PHNED by either disrupting protein expression through nonsense-mediated decay or altering the DNA-binding affinity of the homeobox domain of HOXC13.

The impact of emerging domestic and commercial electro-heating technologies on energy consumption and quality parameters of cooked beef.

The purpose of this study was to investigate the effects of e-Cooker® and moderate electric field (MEF) cooking on physical and chemical changes occurring during the cooking of meat. Beef muscle samples (38.86 ± 0.

An evaluation of an intervention designed to help inactive adults become more active with a peer mentoring component: a protocol for a cluster randomised feasibility trial of the Move for Life programme.

Background: There is overwhelming evidence to support the promotion of physical activity in adults in terms of benefits to well-being, physical and mental health. Physical activity guidelines suggest that adults should accumulate at least 150 min of moderate to vigorous physical activity per week. In Ireland, the majority of adults do not achieve these guidelines, with costs to health and economy.