An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

Eitemau Tebyg

• Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
  gan: Duran, Ivan, et al.
  Cyhoeddwyd: (2016)
• Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia
  gan: Duran, Ivan, et al.
  Cyhoeddwyd: (2017)
• Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene
  gan: Mhatre, S, et al.
  Cyhoeddwyd: (2020)
• IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
  gan: Zhang, Wenjuan, et al.
  Cyhoeddwyd: (2016)
• Zebrafish ift57, ift88, and ift172 intraflagellar transport mutants disrupt cilia but do not affect Hedgehog signaling
  gan: Lunt, Shannon C., et al.
  Cyhoeddwyd: (2009)