| http://purl.uniprot.org/citations/28041644 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28041644 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28041644 | http://www.w3.org/2000/01/rdf-schema#comment | "Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility. Further, PIH1D3 interacts and co-precipitates with cytoplasmic ODA/IDA assembly factors DNAAF2 and DNAAF4. This result has clinical and genetic counseling implications for genetically unsolved male case subjects with a classic PCD phenotype that lack additional phenotypes such as intellectual disability or retinitis pigmentosa."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.11.019"xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.11.019"xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Wu K."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Wu K."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Loges N.T."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Loges N.T."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Olbrich H."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Olbrich H."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Omran H."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Omran H."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Sistermans E.A."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Sistermans E.A."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Micha D."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Micha D."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Bakey Z."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Bakey Z."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Grosse-Onnebrink J."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Grosse-Onnebrink J."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Schmidts M."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Schmidts M."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Werner C."xsd:string |
| http://purl.uniprot.org/citations/28041644 | http://purl.uniprot.org/core/author | "Werner C."xsd:string |