Nonsense mutations outside the splicing consensus sequence have been reported to cause skipping of the nonsense-containing exon in several human diseases. We describe, for the first time, nonsense-mediated exon skipping in the laminin alpha2 (LAMA2) gene. Two siblings from a consanguineous family had altered expression of the laminin alpha2 chain and moderate clinical manifestations. In both we...

BACKGROUND Breakfast is often thought to be the most important meal of the day as it is known to provide energy for the brain and improve learning. It is also known to contribute significantly to the total daily energy and nutrient intake. Skipping breakfast may affect performance during the rest of the day. AIM To determine the level of breakfast skipping among medical students and its effec...

Two experiments examined how lexical status affects the targeting of saccades during reading by using the boundary technique to vary independently the content of a letter string when seen in parafoveal preview and when directly fixated. Experiment 1 measured the skipping rate for a target word embedded in a sentence under three parafoveal preview conditions: full preview (e.g., brain-brain), ps...

c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation. Moreover, patients with myeloid neoplasm frequently harbor c-Cbl mutations, implicating the role of c-Cbl as a tumor suppressor. Recently, we have shown that c-Cbl downregulates αPix-mediated cell migration and inva...

A bstract Recent work has suggested an intriguing relation between quantum chaos and energy density correlations, known as pole skipping. We investigate this relationship in two dimensional conformal field theories on a finite size spatial circle by studying the thermal retarded two-point function torus. find that location ω * = i λ of skipping complex frequency plane is determined central char...

Cystic fibrosis is a prominent genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Among the many disease-causing alterations are pre-mRNA splicing defects that can hamper mandatory exon inclusion. CFTR exon 9 splicing depends in part on a polymorphic UG(m)U(n) sequence at the end of intron 8, which can be bound by TDP-43, leading to parti...

Antisense-mediated exon skipping is a promising approach for the treatment of Duchenne muscular dystrophy (DMD), a rare life-threatening genetic disease due to dystrophin deficiency. Such an approach can restore the disrupted reading frame of dystrophin pre-mRNA, generating a truncated form of the protein. Alternatively, antisense therapy can be used to induce destructive exon skipping of myost...

Eye movements were monitored as subjects read sentences containing high- or low-predictable target words. The extent to which target words were predictable from prior context was varied: Half of the target words were predictable, and the other half were unpredictable. In addition, the length of the target word varied: The target words were short (4-6 letters), medium (7-9 letters), or long (10-...