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Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental and neurodegenerative disorders. Growing(More)
Syllabus Despite forty years of economic growth and government efforts, poverty rates (especially for children and minorities) have stayed stubbornly high. According to the U. S. Census Bureau, in 2003, about 35.9 million Americans were poor, that is, they had incomes below the federally established poverty line, $14,680 for a family of three. This course(More)
Pannexin1 (PANX1) is probably best understood as an ATP release channel involved in paracrine signaling. Given its ubiquitous expression, PANX1 pathogenic variants would be expected to lead to disorders involving multiple organ systems. Using whole exome sequencing, we discovered the first patient with a homozygous PANX1 variant (c.650G→A) resulting in an(More)
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