Reference - Detail
| RRC ID | 53314 |
|---|---|
| Author | Niwa S. |
| Title | The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans. |
| Journal | Sci Rep |
| Abstract |
Defects in cilia cause a spectrum of diseases known as ciliopathies. Nephronophthisis, a ciliopathy, is the most common genetic cause of renal disease. Here, I cloned and analysed a nephronophthisis-related gene ift-139 in Caenorhabditis elegans. ift-139 was exclusively expressed in ciliated neurons in C. elegans. Genetic and cellular analyses suggest that ift-139 plays a role in retrograde intraflagellar transport and is required for cilia formation. A homologous point mutation that causes ciliopathy disrupted the function of ift-139 in C. elegans. ift-139 is an orthologue of human TTC21B, mutations in which are known to cause nephronophthisis 12 and short-rib thoracic dysplasia 4. These results suggest that ift-139 is evolutionarily conserved and fundamental to the formation of cilia. |
| Volume | 6 |
| Pages | 31544 |
| Published | 2016-8-12 |
| DOI | 10.1038/srep31544 |
| PII | srep31544 |
| PMID | 27515926 |
| PMC | PMC4981862 |
| MeSH | Animals Caenorhabditis elegans* / genetics Caenorhabditis elegans* / metabolism Cilia / genetics Cilia / metabolism Cloning, Molecular Evolution, Molecular* Kidney Diseases, Cystic* / genetics Kidney Diseases, Cystic* / metabolism Microtubule-Associated Proteins* / genetics Microtubule-Associated Proteins* / metabolism Point Mutation* |
| IF | 3.998 |
| Times Cited | 10 |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | X(Twitter) |
| Total number of mentions | 7 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| C.elegans | tm324 |