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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Archive ouverte | Bustamante-Marin, Ximena | CCSD

International audience. Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent homozygous ...

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Archive ouverte | Dodd, Daniel, O | CCSD

International audience. Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type– and co...

TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assemblymechanisms in motile cilia versus flagella

Archive ouverte | Thomas, Lucie | CCSD

International audience. Cilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs/IDAs). Defects in ODAs/IDAs result in primary ciliary dyskin...

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