Resources

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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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Sophie Thomas, Vincent Cantagrel, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach

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Growth and host interaction of mouse segmented filamentous bacteria in vitro.

Nadine CERF-BENSUSSAN

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DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome.

Michel Polak, Dulanjalee Kariyawasam, Aurore Carre

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Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.

Emmanuelle SIX, Alain Fischer, Marina Cavazzana

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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Sophie Thomas, Sophie Saunier, Tania Attié-Bitach

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