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Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.

Chantal LAGRESLE-PEYROU, Marina Cavazzana

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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XYLT1 mutations in Desbuquois dysplasia type 2.

Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Sophie Thomas, Jeanne Amiel, Jean-Laurent CASANOVA , Nathalie Boddaert, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Sophie Saunier, Tania Attié-Bitach

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Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice.

Geneviève de Saint Basile, Fernando Sepulveda

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Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Frédéric Rieux-Laucat

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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Céline Huber, Geneviève Baujat, Kim-Hanh Le Quan Sang, Arnold Munnich, Valérie Cormier-Daire

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Elevated expression of the V-ATPase C subunit triggers JNK-dependent cell invasion and overgrowth in a Drosophila epithelium.

Matias Simons

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Sophie Thomas, Tania Attié-Bitach

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Extracting 3D cell parameters from dense tissue environments: application to the development of the mouse heart.

Sigolène Meilhac

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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Vincent Cantagrel

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Deletion of the LTR enhancer/promoter has no impact on the integration profile of MLV vectors in human hematopoietic progenitors.

Annarita Miccio

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Sophie Thomas, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach, Lydie Burglen

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