Author

C. Acquaviva-Bourdain

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#protein folding Open access Oct 2026

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.

Vera Garloff, M. Grimmel, R. Maroofian et al. · EBioMedicine · 0 citations

Oct 2026

Clinically actionable genetic findings by exome sequencing performed for therapeutic purposes in children with very-high risk cancer included the MAPPYACTS study.

INTRODUCTION Next-generation sequencing performed for therapeutic decision-making in pediatric cancers provides an opportunity to identify germline variants associated with hereditary cancer predisposition and other actionable inherited conditions. METHODS Germline whole-exome sequencing (WES) was performed within th...

Tiphaine Adam-de-Beaumais, Yahia Adnani, L. Guerrini-Rousseau et al. · European Journal of Cancer · 0 citations