AUTS2 syndrome is characterized by intellectual disability and microcephaly, and is often associated with autism spectrum disorder, but the underlying mechanisms, particularly concerning microcephaly, remain incompletely understood. Here, we analyze mice mutated for the transcriptional regulator AUTS2, which recapitulate microcephaly. Their brains exhibit reduced division of intermediate progenitor cells (IPCs), leading to fewer neurons and decreased thickness in the upper-layer cortex.
View Article and Find Full Text PDFAs technology evolves and medical needs diversify, the pharmaceutical industry must accelerate its openness. This study analysed interorganizational alliances in R&D for the new modality of oligonucleotide therapeutics in order to explore the requirements for establishing new markets. The results confirmed that the market has developed in stages, employing open innovation for different purposes according to technological progress.
View Article and Find Full Text PDFGovernment policies in the United States and the European Union promote standardization and value creation in the use of FAIR (findability, accessibility, interoperability, and reusability) data, which can enhance trust in digital health systems and is crucial for their success. Trust is built through elements such as FAIR data access, interoperability, and improved communication, which are essential for fostering innovation in digital health technologies. This Viewpoint aims to report on exploratory research demonstrating the feasibility of testing a patient-centric data flow model facilitating semantic interoperability on precision medical information.
View Article and Find Full Text PDFAccurate mitotic division of neural stem and progenitor cells (NSPCs) is crucial for the coordinated generation of progenitors and mature neurons, which determines cortical size and structure. While mutations in the kinesin-like motor protein KIF23 gene have been recently linked to microcephaly in humans, the underlying mechanisms remain elusive. Here, we explore the pivotal role of KIF23 in embryonic cortical development.
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