Ciliary Motility Disorders

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  Subject Areas on Research

  • Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia. 
  • Head and neck manifestations of cystic fibrosis and ciliary dyskinesia. 
  • Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 
  • TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. 
  • The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. 
  • The ciliopathies: a transitional model into systems biology of human genetic disease.