Dynein schwere Kette 5

Vaughan KT et al. (1996) Multiple mouse chromosomal loci for dynein-based motility.

Omran H et al. (2000) Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

Olbrich H et al. (2002) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Ibañez-Tallon I et al. (2002) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

Tan SY et al. (2007) Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

Failly M et al. (2009) Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Knowles MR et al. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

Chapelin C et al. (1997) Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.

Ibañez-Tallon I et al. (2003) To beat or not to beat: roles of cilia in development and disease.

Ibañez-Tallon I et al. (2004) Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.

Orphanet article

NCBI article

OMIM.ORG article