CADASIL is a NOTCH3 -associated cerebral small vessel disease. A pathological ultrastructural disease hallmark is the presence of NOTCH3-protein containing deposits called granular osmiophilic material (GOM), in small arteries. How these GOM deposits develop over time and what their role is in disease progression is largely unknown. Here, we studied the progression of GOM deposits in humanized transgenic NOTCH3 Arg182Cys mice,...

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], incl...

Surf zones are highly dynamic, physically stressful parts of sandy beach ecosystems. The high wave energy of surf zones has in the past severely hampered ecological surveys of these systems. Here we used a novel technique to collect fauna from this environment along the Dutch coast. A large vehicle in the form a tripod that drives along the sandy seafloor and supports a sampling platform 11 m above the water line can collect b...