Gene Ontology annotation through association of InterPro records with GO terms

Annotation inferences using phylogenetic trees

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Combined Automated Annotation using Multiple IEA Methods

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.

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.

Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

ZMYND10 functions in a chaperone relay during axonemal dynein assembly.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.