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What roles can democracy labs play in co-creating democratic innovations for sustainability?NARA Subscribed
This perspective essay proposes Democracy Labs as new processes for developing democratic innovations that help tackle complex socio-ecological challenges within an increasingly unequal and polarised society, against the backdrop of democratic backsliding. Next to the current socio-ecological crisis, rapid technological innovations present both opportunities and challenges for democracy and call for democratic innovations. The...
Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious miceNARA Subscribed
Echocardiography, a rapid and cost-effective imaging technique, assesses cardiac function and structure. Despite its popularity in cardiovascular medicine and clinical research, image-derived phenotypic measurements are manually performed, requiring expert knowledge and training. Notwithstanding great progress in deep-learning applications in small animal echocardiography, the focus has so far only been on images of anesthetiz...
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathiesNARA Subscribed
Biallelic variants in TOR1AIP1 , encoding the integral nuclear membrane protein LAP1 (lamina-associated polypeptide 1) with two functional isoforms LAP1B and LAP1C, have initially been linked to muscular dystrophies with variable cardiac and neurological impairment. Furthermore, a recurrent homozygous nonsense alteration, resulting in loss of both LAP1 isoforms, was identified in seven likely related individuals affected by mu...