Novel Loss of Function Variants in Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in , including one structural variant, giving a genetic diagnosis to the patients.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using exome sequencing, we identified heterozygous KIF3B variants in two unrelated families with hallmark ciliopathy phenotypes.

Effects of finishing diets containing wet distillers grains plus solubles on beef quality attributes and fatty acid profile.

The objective of this study was to evaluate the effects of feeding wet distillers grains plus solubles (WDGS) on quality attributes of three beef muscles (longissimus lumborum, psoas major, and infraspinatus). Ninety-six, yearlings crossbred steers were randomly assigned to one of three dietary treatments (Corn, 15%, or 30% WDGS - DM basis) and fed for 133 d. No significant differences were observed in marbling score (P=0.