Elizabeth R. Snedecor

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The primary cilium is essential for skin morphogenesis through regulating the Notch, Wnt, and hedgehog signaling pathways. Prior studies on the functions of primary cilia in the skin were based on the investigations of genes that are essential for cilium formation. However, none of these ciliogenic genes has been linked to ciliopathy, a group of disorders(More)
Elizabeth R. Snedecor1,3,9, Clifford Sung1,4,9, Alejandra Moncayo1,5, Brooke E. Rothstein1,6, Daniel C. Mockler1, Marcia G. Tonnesen2,8, Evan C. Jones2, Mayumi Fujita7, Richard A. Clark2,5, Kenneth R. Shroyer1, and Jiang Chen1,2 1Department of Pathology, Stony Brook University, Stony Brook, NY 11794 2Department of Dermatology, Stony Brook University, Stony(More)
Dominant mutations in keratin genes can cause a number of inheritable skin disorders characterized by intraepidermal blistering, epidermal hyperkeratosis, or abnormalities in skin appendages, such as nail plate dystrophy and structural defects in hair. Allele-specific silencing of mutant keratins through RNA interference is a promising therapeutic approach(More)
GORAB is a golgin that localizes predominantly at the Golgi apparatus and physically interacts with small guanosine triphosphatases. GORAB is ubiquitously expressed in mammalian tissues, including the skin. However, the biological function of this golgin in skin is unknown. Here, we report that disrupting the expression of the Gorab gene in mice results in(More)
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