Résultat de recherche

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

Alexandre Benmerah

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

Sophie Saunier

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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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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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A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Sophie Saunier

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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Cécile Jeanpierre

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Cécile Jeanpierre

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