Publications and ressources

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Olivier Gribouval, Christelle Arrondel, Géraldine Mollet, Guillaume Dorval, Corinne Antignac

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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Corinne Antignac, Matias Simons, Patrick Nitschké, Christine Bole, Olivier Gribouval, Olivia Boyer

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Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Sophie Saunier, Stanislas Lyonnet, Nicolas Garcelon

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TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Corinne Antignac, Guillaume Dorval, Olivier Gribouval, Olivia Boyer, Alexandre Benmerah , Géraldine Mollet

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Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Alexandre Benmerah

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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Sophie Saunier, Valérie Cormier-Daire, Cécile Jeanpierre, Meriem Garfa-Traoré , Patrick Nitschké

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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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Cilia in hereditary cerebral anomalies.

Alexandre Benmerah

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Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mechanistic targets for (R)-roscovitine and (S)-CR8.

Sophie Saunier

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Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling.

Alexandre Benmerah

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Cécile Jeanpierre

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Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

Sophie Saunier

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Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Frances Tilley

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Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Sophie Saunier

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KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling.

Sophie Saunier

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