Publications and ressources

New Publication

Jean-Laurent CASANOVA , Laurent Abel

Source :

Pmid / DOI:

New Publication

Jean-Laurent CASANOVA

Source :

Pmid / DOI:

Mechanisms of viral inflammation and disease in humans

Jean-Laurent CASANOVA

Source :

Pmid / DOI:

New Publication

Source :

Pmid / DOI:

Rab44 regulates murine mast cell–driven anaphylaxis through kinesin-1–dependent secretory granule translocation

Cyril Longe, Mathieu Kurowska, Pierre David, Valère Desmeure, Alain Fischer, Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché

Source :

Pmid / DOI:

An obesogenic feedforward loop involving PPARγ, acyl-CoA binding protein and GABA A receptor

Source :

Pmid / DOI:

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Lydie Burglen

Source :

Pmid / DOI:

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing

Source :

Pmid / DOI:

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Vincent Cantagrel

Source :

Pmid / DOI:

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study

Source :

Pmid / DOI:

An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.

Source :

Pmid / DOI:

Prevention of guanylyl cyclase-B dephosphorylation rescues achondroplastic dwarfism.

Source :

Pmid / DOI:

Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia.

Source :

Pmid / DOI:

FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.

Source :

Pmid / DOI:

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

Source :

Pmid / DOI: