Publications and ressources

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Chantal LAGRESLE-PEYROU, Hanem SADEK, Cindy DA SILVA, Alexandrine GARRIGUE, Isabelle André, Marina Cavazzana

Source :

Pmid / DOI:

Innate immune cells, major actors of sickle cell disease pathophysiology.

Olivier Hermine, Thiago Trovati Maciel

Source :

Pmid / DOI:

Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice.

Frédéric Rieux-Laucat

Source :

Pmid / DOI:

Evolutionary Gain of Dbx1 Expression Drives Subplate Identity in the Cerebral Cortex.

Alessandra Pierani, Andrzej W Cwetsch, Yoann Saillour

Source :

Pmid / DOI:

Neuromyelitis optica in patients with increased interferon alpha concentrations.

Yanick Crow

Source :

Pmid / DOI:

Activity-dependent death of transient Cajal-Retzius neurons is required for functional cortical wiring.

Alessandra Pierani, Martina Riva

Source :

Pmid / DOI:

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Manuel SCHIFF, Arnold Munnich, Jean Paul BONNEFONT, Julie STEFFANN, Agnès Rötig, Metodi METODIEV, Benedetta RUZZENENTE

Source :

Pmid / DOI:

Developmental cell death regulates lineage-related interneuron-oligodendroglia functional clusters and oligodendrocyte homeostasis.

Alessandra Pierani

Source :

Pmid / DOI:

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Olivia Boyer, Aude Servais, Olivier Gribouval, Patrick Nitschké, Corinne Antignac, Matias Simons

Source :

Pmid / DOI:

Ttc7a regulates hematopoietic stem cell functions while controlling the stress-induced response.

Geneviève de Saint Basile, Fernando Sepulveda , Tania Gajardo, Alain Fischer

Source :

Pmid / DOI:

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Nancy Vegas, Clémantine Dimartino, Stanislas Lyonnet, Valérie Cormier-Daire, Jeanne Amiel, Chris Gordon

Source :

Pmid / DOI:

Dendritic Cell Maturation Regulates TSPAN7 Function in HIV-1 Transfer to CD4+ T Lymphocytes.

Marine LUKA, Mickaël Ménager , Brieuc PEROT

Source :

Pmid / DOI:

How Do Electric Fields Coordinate Neuronal Migration and Maturation in the Developing Cortex?

Alessandra Pierani, Vera Medvedeva

Source :

Pmid / DOI:

New perspectives on the treatment of skeletal dysplasia.

Valérie Cormier-Daire

Source :

Pmid / DOI:

Novel Treatments of Adult T Cell Leukemia Lymphoma.

Olivier Hermine

Source :

Pmid / DOI: