Human-specific genes are potential drivers of brain evolution. Among them, SRGAP2C has contributed to the emergence of features characterizing human cortical synapses, including their extended period of maturation. SRGAP2C inhibits its ancestral copy, the postsynaptic protein SRGAP2A, but the synaptic molecular pathways differentially regulated in humans by SRGAP2 proteins remain largely unknown.
View Article and Find Full Text PDFThe UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-specific genomic imprinting and it plays a critical role in brain development. Genetic defects of UBE3A cause severe neurodevelopmental disorders, namely the Angelman syndrome (AS) and the 15q11.2-q13.
View Article and Find Full Text PDFComput Struct Biotechnol J
December 2024
Accidents at work may force workers to face abrupt changes in their daily life: one of the most impactful accident cases consists of the worker remaining in a wheelchair. Return To Work (RTW) of wheelchair users in their working age is still challenging, encompassing the expertise of clinical and rehabilitation personnel and social workers to match the workers' residual capabilities with job requirements. This work describes a novel and prototypical knowledge-based Decision Support System (DSS) that matches workers' residual capabilities with job requirements, thus helping vocational therapists and clinical personnel in the RTW decision-making process for WUs.
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