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Primary cilia are nearly ubiquitous cellular appendages that provide important sensory and signaling functions. Ciliary dysfunction underlies numerous human diseases, collectively termed ciliopathies. Primary cilia have distinct functions on different cell types and these functions are defined by the signaling proteins that localize to the ciliary membrane.(More)
Primary cilia were first detected on neurons in the mammalian brain over 40 years ago using electron microscopy. However, this approach is very labor intensive and has inherent limitations that restrict its utility for studying neuronal cilia. While the study of cilia in other tissues was greatly facilitated by the identification of specific ciliary(More)
The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD). This recognition prompted development of animal models expressing the DUX4 open reading frame (ORF) alone or embedded within D4Z4 repeats. In the first published(More)
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