Selected article for: "ciliary protein and high confidence"

Author: Monika Abedin Sigg; Tabea Menchen; Jeffery Johnson; Chanjae Lee; Semil P. Choksi; Galo Garcia; Henriette Busengdal; Gerard Dougherty; Petra Pennekamp; Claudius Werner; Fabian Rentzsch; Nevan Krogan; John B. Wallingford; Heymut Omran; Jeremy F. Reiter
Title: Evolutionary proteomics uncovers ciliary signaling components
  • Document date: 2017_6_22
  • ID: 9y8r277c_13
    Snippet: Thus, we hypothesized that high-confidence ciliome constituents not associated with 244 ciliopathies are candidates that may explain the etiologies of orphan ciliopathies. For example, 245 one high-confidence ciliome member, coiled-coil domain containing 63 (CCDC63), was recently 246 identified as being essential for mouse sperm flagella formation, suggesting that it could be a 247 ciliary protein linked to male fertility (Young et al., 2015) . O.....
    Document: Thus, we hypothesized that high-confidence ciliome constituents not associated with 244 ciliopathies are candidates that may explain the etiologies of orphan ciliopathies. For example, 245 one high-confidence ciliome member, coiled-coil domain containing 63 (CCDC63), was recently 246 identified as being essential for mouse sperm flagella formation, suggesting that it could be a 247 ciliary protein linked to male fertility (Young et al., 2015) . Other ciliome constituents may also 248 indicate ciliary etiologies for syndromes not previously recognized as ciliopathies. For example, 249 WD-repeat domain 65 (WDR65, also known as CFAP57), was identified in all three ciliomes 250 and is associated with van der Woude syndrome, a craniofacial malformation with features 251 similar to that of Orofaciodigital syndrome, a recognized ciliopathy (Rorick et al., 2011) . 252

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