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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Dnah5  -  dynein, axonemal, heavy chain 5

Mus musculus

Synonyms: AU022615, Axonemal beta dynein heavy chain 5, Ciliary dynein heavy chain 5, Dnahc5, Dynein heavy chain 5, axonemal, ...
 
 
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Disease relevance of Dnahc5

 

High impact information on Dnahc5

  • Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation [2].
  • Here, we show that ependymal cilia generate a laminar flow of cerebrospinal fluid through the cerebral aqueduct, which we term as 'ependymal flow'. The axonemal dynein heavy chain gene Mdnah5 is specifically expressed in ependymal cells, and is essential for ultrastructural and functional integrity of ependymal cilia [2].

References

  1. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Ibañez-Tallon, I., Gorokhova, S., Heintz, N. Hum. Mol. Genet. (2002) [Pubmed]
  2. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Ibañez-Tallon, I., Pagenstecher, A., Fliegauf, M., Olbrich, H., Kispert, A., Ketelsen, U.P., North, A., Heintz, N., Omran, H. Hum. Mol. Genet. (2004) [Pubmed]
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