Associated Papers
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.
Beyer T et al.
Molecular & Cellular Proteomics : Mcp, 2025
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
Oud MM et al.
Cilia, 2018
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S et al.
Investigative Ophthalmology & Visual Science, 2016
Mutations in human IFT140 cause non-syndromic retinal degeneration.
Xu M et al.
Human Genetics, 2015
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I et al.
American Journal of Human Genetics, 2012
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