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.