Mutations in CCDC11, which Encodes a Coiled‐Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer

@article{Narasimhan2015MutationsIC,
  title={Mutations in CCDC11, which Encodes a Coiled‐Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer},
  author={Vijay Narasimhan and Rim Hjeij and Shubha Vij and Niki Tomas Loges and Julia Wallmeier and Cordula Koerner‐Rettberg and Claudius Werner and Surin Kumar Thamilselvam and Adrian Boey and Semil P. Choksi and Petra Pennekamp and Sudipto Roy and Heymut Omran},
  journal={Human Mutation},
  year={2015},
  volume={36}
}
In vertebrates, establishment of left–right (LR) asymmetry is dependent on cilia‐driven fluid flow within the LR organizer. Mutations in CCDC11 disrupt LR asymmetry in humans, but how the gene functions in LR patterning is presently unknown. We describe a patient with situs inversus totalis carrying homozygous loss‐of‐function mutations in CCDC11. We show that CCDC11 is an axonemal protein in respiratory cilia, but is largely dispensable for their structure and motility. To investigate the role… Expand
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  • R. Burdine, D. Grimes
  • Biology, Medicine
  • Philosophical Transactions of the Royal Society B: Biological Sciences
  • 2016
TLDR
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