Ciliary Motility Disorders

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  Subject Areas on Research

  • A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 
  • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 
  • Ciliopathies. 
  • Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. 
  • Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. 
  • Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia. 
  • Disruption of a ciliary B9 protein complex causes Meckel syndrome. 
  • Head and neck manifestations of cystic fibrosis and ciliary dyskinesia. 
  • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 
  • Microtubule transport defects in neurological and ciliary disease. 
  • Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 
  • Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 
  • TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 
  • TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 
  • The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. 
  • The centrosome in human genetic disease. 
  • The ciliopathies: a transitional model into systems biology of human genetic disease. 
  • The ciliopathies: an emerging class of human genetic disorders. 
  • Zebrafish assays of ciliopathies. 
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  Keywords of People

  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology