Medical and psychosocial outcomes of state-funded population genomic screening.

As the uptake of population screening expands, assessment of medical and psychosocial outcomes is needed. Through the Alabama Genomic Health Initiative (AGHI), a state-funded genomic research program, individuals received screening for pathogenic or likely pathogenic variants in 59 actionable genes via genotyping. Of the 3874 eligible participants that received screening results, 858 (22%) responded to an outcomes survey.

The importance of a single amino acid substitution in reduced red blood cell carbonic anhydrase function of early-diverging fish.

In most vertebrates, red blood cell carbonic anhydrase (RBC CA) plays a critical role in carbon dioxide (CO) transport and excretion across epithelial tissues. Many early-diverging fishes (e.g.

Blood and Gill Carbonic Anhydrase in the Context of a Chondrichthyan Model of CO Excretion.

Pacific spiny dogfish () have been widely used as a representative species for chondrichthyan CO excretion. Pacific spiny dogfish have a slower red blood cell (RBC) carbonic anhydrase (CA) isoform than teleost fishes, extracellular CA activity, no endogenous plasma CA inhibitor, and plasma-accessible CA IV at the gills. Thus, both the RBC and plasma compartments contribute to bicarbonate ion () dehydration at the gills for CO excretion in contrast to teleost fishes, in which dehydration is restricted to RBCs.