Publications and ressources

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis.

Alain Fischer, Fernando Sepulveda , Geneviève de Saint Basile

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Flies With Skin Blisters.

Matias Simons

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Isabelle PERRAULT, Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

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LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché, Alain Fischer

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Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Isabelle PERRAULT, Arnold Munnich, Jean-Michel Rozet

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V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis.

Matias Simons

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Céline Huber, Meriem Garfa-Traoré , Christine Bole, Patrick Nitschké, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

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RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.

Michel Polak

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Development and evolution of cortical fields.

Alessandra Pierani

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Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

Frédéric Rieux-Laucat

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Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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A human immunodeficiency caused by mutations in the PIK3R1 gene.

Sven KRACKER, Marina Cavazzana, Alain Fischer, Christine Bole, Patrick Nitschké

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A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché, Alain Fischer, Mathieu Kurowska

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Vincent Cantagrel, Jean-Laurent CASANOVA

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