Résultat de recherche

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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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Sandrine Marlin, Jean-Michel Rozet, Meriem Garfa-Traoré , Stanislas Lyonnet, Nathalie Boddaert

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Sandrine Marlin

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Cross-kingdom mimicry of the receptor signaling and leukocyte recruitment activity of a human cytokine by its plant orthologs.

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Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled by Endothelin 3 and Requires Regulation of Ednrb by SOX10 and ZEB2.

Nadège Bondurand, Véronique Pingault

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