Résultat de recherche

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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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Sophie Saunier

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Sophie Saunier

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Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Sophie Saunier, Stanislas Lyonnet, Nicolas Garcelon

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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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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Corinne Antignac, Matias Simons, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Corinne Antignac, Géraldine Mollet, Christelle Arrondel, Olivia Boyer

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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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Lysosomal Targeting of Cystinosin Requires AP-3.

Corinne Antignac

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