Publications and ressources

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Nadia Bahi-Buisson

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Valérie Malan

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Baboon envelope LVs efficiently transduced human adult, fetal, and progenitor T cells and corrected SCID-X1 T-cell deficiency.

Kuiying MA, Hanem SADEK, Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives.

Laurent Abel

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

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Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

Sophie Saunier

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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Vincent Cantagrel, Nathalie Lefort

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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Jean-Laurent CASANOVA

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Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Frances Tilley

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Luís Seabra, Yanick Crow , Marie-Louise Frémond, Alice Lepelley, Isabelle Melki

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Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Sophie Saunier

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Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Chantal LAGRESLE-PEYROU, Bénédicte Neven

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Recent advances in the understanding and therapeutic management of mastocytosis.

Laura Polivka, Leila Maouche-Chrétien, Laurent Frenzel, Olivier Hermine

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Lessons to Learn From Low-Dose Cyclosporin-A: A New Approach for Unexpected Clinical Applications.

Olivier Hermine

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