| http://purl.uniprot.org/citations/29293958 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29293958 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29293958 | http://www.w3.org/2000/01/rdf-schema#comment | "The Cell Division-Cycle-14 gene encodes a dual-specificity phosphatase necessary in yeast for exit from mitosis. Numerous disparate roles of vertebrate Cell Division-Cycle-14 (CDC14A) have been proposed largely based on studies of cultured cancer cells in vitro. The in vivo functions of vertebrate CDC14A are largely unknown. We generated and analyzed mutations of zebrafish and mouse CDC14A, developed a computational structural model of human CDC14A protein and report four novel truncating and three missense alleles of CDC14A in human families segregating progressive, moderate-to-profound deafness. In five of these families segregating pathogenic variants of CDC14A, deaf males are infertile, while deaf females are fertile. Several recessive mutations of mouse Cdc14a, including a CRISPR/Cas9-edited phosphatase-dead p.C278S substitution, result in substantial perinatal lethality, but survivors recapitulate the human phenotype of deafness and male infertility. CDC14A protein localizes to inner ear hair cell kinocilia, basal bodies and sound-transducing stereocilia. Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness. Kinocilia of germ-line mutants of mouse and zebrafish have normal lengths, which does not recapitulate the published cdc14aa knockdown morphant phenotype of short kinocilia. In mutant male mice, degeneration of seminiferous tubules and spermiation defects result in low sperm count, and abnormal sperm motility and morphology. These findings for the first time define a new monogenic syndrome of deafness and male infertility revealing an absolute requirement in vivo of vertebrate CDC14A phosphatase activity for hearing and male fertility."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddx440"xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddx440"xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Dong L."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Dong L."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Bashir R."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Bashir R."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Riazuddin S."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Riazuddin S."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Najmabadi H."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Najmabadi H."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Kahrizi K."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Kahrizi K."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Morell R.J."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Morell R.J."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Smith R.J.H."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Smith R.J.H."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Masmoudi S."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Masmoudi S."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Fenollar-Ferrer C."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Fenollar-Ferrer C."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Waryah A.M."xsd:string |
| http://purl.uniprot.org/citations/29293958 | http://purl.uniprot.org/core/author | "Waryah A.M."xsd:string |