Publications and ressources

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Christine Bole, Patrick Nitschké, Arnold Munnich, Stanislas Lyonnet, Jean-Michel Rozet

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Quantitative analysis of polarity in 3D reveals local cell coordination in the embryonic mouse heart.

Sigolène Meilhac

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Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells.

Nathalie Lefort

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Asymmetric fate of the posterior part of the second heart field results in unexpected left/right contributions to both poles of the heart.

Sigolène Meilhac

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Lineage tree for the venous pole of the heart: clonal analysis clarifies controversial genealogy based on genetic tracing.

Sigolène Meilhac

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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Jean-Michel Rozet

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Isabelle PERRAULT, Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Patrick Nitschké, Arnold Munnich, Jean-Michel Rozet

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Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Sophie Thomas, Tania Attié-Bitach

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TCTN3 mutations cause Mohr-Majewski syndrome.

Sophie Thomas, Sophie Saunier, Yves Ville, Patrick Nitschké, Stanislas Lyonnet, Arnold Munnich, Valérie Cormier-Daire, Tania Attié-Bitach

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The GATA1-HS2 enhancer allows persistent and position-independent expression of a β-globin transgene.

Annarita Miccio

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Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex.

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

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Lentiviral vector integration in the human genome induces alternative splicing and generates aberrant transcripts.

Annarita Miccio

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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Isabelle PERRAULT, Arnold Munnich, Jean-Michel Rozet

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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Arnold Munnich, Jean-Michel Rozet

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