Publications and ressources

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Nadège Bondurand, Véronique Pingault

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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Sophie Saunier

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Lydie Burglen, Valentina Marchesin, Marlène Rio, Nadia Bahi-Buisson, Christine Bole, Arnold Munnich, Matias Simons, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet

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Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.

Emilie Dambroise, Nabil Kaci, Arnold Munnich, Martin Biosse-Duplan, Laurence Legeai-Mallet

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Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Sophie Saunier

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Genome-Wide Definition of Promoter and Enhancer Usage during Neural Induction of Human Embryonic Stem Cells.

Annarita Miccio

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AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages.

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

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Lysosomal Targeting of Cystinosin Requires AP-3.

Corinne Antignac

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Aurélie Cobat

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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Jeanne Amiel, Chris Gordon, Stanislas Lyonnet, Patrick Nitschké, Loïc de Pontual, Damien Bonnet, Anne Guimier

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Vincent Cantagrel, Stanislas Lyonnet

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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Jean-Michel Rozet, Isabelle PERRAULT

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Actin Dynamics Regulates Dendritic Cell-Mediated Transfer of HIV-1 to T Cells.

Mickaël Ménager

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An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

Chantal LAGRESLE-PEYROU, Laëtitia Kermasson, Patrick Nitschké, Marina Cavazzana, Alain Fischer, Jean-Pierre De Villartay, Patrick Revy

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