Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.

@article{FernandezGonzalez2009MutationOM,
  title={Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.},
  author={Angeles Fernandez-Gonzalez and Stella Kourembanas and Todd A Wyatt and S. Alex Mitsialis},
  journal={American journal of respiratory cell and molecular biology},
  year={2009},
  volume={40 3},
  pages={305-13}
}
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder, characterized by progressive development of bronchiectasis, inflammation, and features characteristic of chronic obstructive pulmonary disease. We report here that a murine mutation of the evolutionarily conserved adenylate kinase 7 (Ak7) gene results in animals presenting with pathological signs characteristic of PCD, including ultrastructural ciliary defects and decreased ciliary beat frequency in… CONTINUE READING

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