Ubiquitin specific protease 4 (USP4) is a highly networked deubiquitinating enzyme with reported roles in cancer, innate immunity and RNA splicing. In mammals it has two dominant isoforms arising from inclusion or skipping of exon 7 (E7). We evaluated two plausible mechanisms for the generation of these isoforms: (A) E7 skipping due to a long upstream intron and (B) E7 skipping due to inefficie...

Bone mineral accrual during puberty is important, especially in girls, because it is related to reduced risks of osteoporosis in adulthood. Previous research has shown that jumping or plyometric exercises may be effective in increasing bone mineral density in adolescents. Rope skipping is a form of activity that involves jumping, thus regular skipping may also increase bone mineral density in p...

It is well known that one can skip a stone across the water surface, but less well known that a ball can also be skipped on water. The Waboba R © is an elastic ball used in a game of aquatic keep away in which players pass the ball by skipping it along the water. We investigate the physics of skipping elastic balls to elucidate the mechanisms by which they bounce off water. High speed video rev...

Duchenne muscular dystrophy (DMD), the most common muscle degenerative disease, is an X-linked genetic disorder caused by loss or reduction of dystrophin protein, resulting in progressive wasting, and involving skeletal, cardiac, respiratory muscles. There currently no cure for DMD, anti-inflammatory steroid conventional treatment to delay disease progression. Recently, several therapeutic appr...

Trace monitor specifications consist of a pattern that is matched against the trace of events of a subject system. We investigate the design choices in defining the semantics of matching patterns against traces. Some systems use an exact-match semantics (where every relevant event must be matched by the pattern), while others employ a skipping semantics (which allows any event to be skipped dur...

Abstract We present and numerically analyse the Basin Hopping with Skipping (BH-S) algorithm for stochastic optimisation. This replaces perturbation step of basin hopping (BH) a so-called skipping mechanism from rare-event sampling. Empirical results on benchmark optimisation surfaces demonstrate that BH-S can improve performance relative to BH by encouraging non-local exploration, is, between ...

A nonsense mutation in the fibrillin-1 (FBN1) gene of a Marfan syndrome (MFS) patient induces in-frame exon skipping of FBN1 exon 51. We present evidence, based on both in vivo and in vitro experiments, that the skipping of this exon is due to the disruption of an SC35-dependent splicing enhancer within exon 51. In addition, this nonsense mutation induces nonsense-mediated decay (NMD), which de...

In this paper, we describe a research-through-design (RtD) approach to investigate the potential of households’ electricity load balancing in the smart grid. Through the design probe “Peacetime”, householders explore peak hours as opportunities for serene and non-electricity consuming activities. During the 2 weeks, Peacetime was deployed in the homes of three households to explore an alternati...

BACKGROUND Antisense-mediated exon skipping is a putative treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs), the disrupted DMD reading frame is restored, allowing generation of partially functional dystrophin and conversion of a severe Duchenne into a milder Becker muscular dystrophy phenotype. In vivo studies are mainly performed using 2'-O-methyl phospho...