Publications and ressources

A novel genetic architecture of infectious diseases.

Laurent Abel

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Isabelle André, Marina Cavazzana, Geneviève de Saint Basile, Fernando Sepulveda

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An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype.

Annarita Miccio

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A Nontoxic Transduction Enhancer Enables Highly Efficient Lentiviral Transduction of Primary Murine T Cells and Hematopoietic Stem Cells.

Marianne DELVILLE, Adeline DENIS, Chantal LAGRESLE-PEYROU, Marina Cavazzana, Isabelle André, Emmanuelle SIX

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Loss of ARHGEF1 causes a human primary antibody deficiency.

Marina Cavazzana, Isabelle André, Anne DURANDY, Alain Fischer, Sven KRACKER

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Chantal LAGRESLE-PEYROU, Geneviève de Saint Basile, Marina Cavazzana, Isabelle André

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

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A novel, highly potent and selective phosphodiesterase-9 inhibitor for the treatment of sickle cell disease.

Olivier Hermine, Thiago Trovati Maciel

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Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Sorana CIURA

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TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Corinne Antignac, Guillaume Dorval, Olivier Gribouval, Olivia Boyer, Alexandre Benmerah , Géraldine Mollet

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Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.

Rima NABBOUT

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Comment on: Monogenic mimics of Behçet's disease in the young.

Serge Romana

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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Jean-Pierre De Villartay

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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Jean-Laurent CASANOVA

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Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Jean-Laurent CASANOVA , Aurélie Cobat, Laurent Abel

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