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An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are autosomal recessive chondro...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2011
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3049354/ https://ncbi.nlm.nih.gov/pubmed/21227999 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr013 |
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