Publications and ressources

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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Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

Frédéric Rieux-Laucat

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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Sandrine Marlin, Chris Gordon

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Nup153 and Nup98 bind the HIV-1 core and contribute to the early steps of HIV-1 replication.

Annarita Miccio

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Resolving cell lineage contributions to the ventricular conduction system with a Cx40-GFP allele: a dual contribution of the first and second heart fields.

Sigolène Meilhac

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Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking.

Matias Simons

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Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.

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

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Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/γc(-/-) mice.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Corinne de Chappedelaine, Marina Cavazzana, Isabelle André

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