Résultat de recherche

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

Sophie Saunier

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Alexandre Benmerah

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DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Sophie Saunier

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Sophie Saunier

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