Distributed canonical correlation analysis in wireless sensor networks with application to distributed blind source separation

status: publishe

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms. By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. Remarkably, variable expressivity of the human phenotype can be recapitulated in Cwc27 mutant mouse models, with significant embryonic lethality and severe phenotypes in the complete knockout mice while mice with a partial loss-of-function allele mimic the isolated retinal degeneration phenotype. Our study describes a retinal dystrophy-related phenotype spectrum as well as its genetic etiology and highlights the complexity of the spliceosomal gene network

Dragen de zwakste schouders steeds de zwaarste lasten? Klimaatrechtvaardigheid vandaag en in het verleden

status: publishe

At the edge of resilience: making sense of COVID-19 from the perspective of environmental history

Natural disasters nearly always catch societies by surprise, even though in hindsight historians invariably conclude that being caught off-guard in this way was in fact unfounded as both the existence of the natural hazard which caused the disaster, and the societal conditions making communities vulnerable to the hazard, were clearly present before the event. Both experts and the general public also, again in hindsight, suddenly discover that similar hazards and disasters had previously occurred in the past. In many cases, however, the memory of these precursors had faded or seemed irrelevant because the context had changed so dramatically. When future historians come to write the history of the COVID-19 pandemic currently unfolding, therefore, it will probably resemble the history of other major natural, socio-natural or socio-techno-natural disasters - whether pandemics, earthquakes, tsunamis or nuclear catastrophes (Van Bavel et al. 2020). In retrospect, COVID-19 will become a subject which seems quite familiar to environmental historians used to unravelling the complex and hazardous entanglements of society and nature. What can environmental history offer at this moment, however, when the disaster - crisis or hazard - is still unfolding