Publications and ressources

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Lydie Burglen

Source : Genet Med.

Pmid : 32103185

New Publication

Source :

Pmid : PMID: 33129895

New Publication

Source :

Pmid : 34183838

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

Vincent Cantagrel

Source : Nature Communications

Pmid : 33257696

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Source : J Med Genet.

Pmid : 35927022

Omalizumab Therapy for Mast Cell-Mediator Symptoms in Patients with ISM, CM, MMAS, and MCAS.

Laurent Frenzel, Olivier Hermine

Source : J Allergy Clin Immunol Pract

Pmid : 30954641

New Publication

Source :

Pmid : 32111372

Mechanisms of viral inflammation and disease in humans

Jean-Laurent CASANOVA

Source :

Pmid : 34822298

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 : Journal of Allergy and Clinical Immunology

Pmid : 35469841

Prevention of guanylyl cyclase-B dephosphorylation rescues achondroplastic dwarfism.

Source : JCI Insight. 2021

Pmid : 33784257

New Publication

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Pmid : 34936739

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

Lydie Burglen

Source : Am J Hum Genet

Pmid : 35390279

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

Source : Int J Mol Sci 2021

Pmid : 33919228

Neuroinflammatory disorders and mastocytosis: A possible association?

Olivier Hermine

Source : J Allergy Clin Immunol Pract

Pmid : 31077881

New Publication

Jean-Laurent CASANOVA , Laurent Abel

Source :

Pmid : 34822298