Associated Papers
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Clark D et al.
American Journal of Medical Genetics. Part A, 2024
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Wang X et al.
Molecular Genetics & Genomic Medicine, 2019
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
Oud MM et al.
Cilia, 2018
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
Miller KA et al.
Plos Genetics, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M et al.
Human Mutation, 2013
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