Publications by authors named "Barry DeRose"

Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition.

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Article Synopsis
  • Septins are filament-forming proteins present in a variety of eukaryotic organisms, playing crucial roles in processes such as cell division and cytoskeletal organization.
  • Researchers successfully produced and characterized a specific recombinant mammalian septin hetero-octamer complex (SEPT2/SEPT6/SEPT7/SEPT3), allowing for the observation of filament assembly through fluorescent protein fusion.
  • The study provides insights into the organization of the septin complex, showing that SEPT3 is centrally located while SEPT2 is positioned at the ends of the octamer, laying the groundwork for future exploration of septin mechanisms and functions.
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