Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

@article{Pennarun1999LossoffunctionMI,
  title={Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.},
  author={Ga{\"e}lle Pennarun and Estelle Escudier and Catherine Chapelin and Anne Marie Bridoux and Val{\`e}re Cacheux and G. Shreeve11 Roger and Annick Cl{\'e}ment and Michel Goossens and Serge Amselem and B{\'e}n{\'e}dicte Duriez},
  journal={American journal of human genetics},
  year={1999},
  volume={65 6},
  pages={1508-19}
}
Primary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usually inherited as an autosomal recessive trait. Its phenotype is characterized by axonemal abnormalities of respiratory cilia and sperm tails leading to bronchiectasis and sinusitis, which are sometimes associated with situs inversus (Kartagener syndrome) and male sterility. The main ciliary defect in PCD is an absence of dynein arms. We have isolated the first gene involved in PCD, using a candidate… CONTINUE READING
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