Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

PIEZO-dependent mechanosensing is essential for intestinal stem cell fate decision and maintenance.

Stem cells perceive and respond to biochemical and physical signals to maintain homeostasis. Yet, it remains unclear how stem cells sense mechanical signals from their niche in vivo. In this work, we investigated the roles of PIEZO mechanosensitive channels in the intestinal stem cell (ISC) niche.

[The critique of an artificial intelligence tool in the assessment of peripheral facial paralysis].

Peripheral facial palsy (PFP) is an alteration in the functioning of some facial muscles following an injury to the facial nerve. This pathology has functional and aesthetic consequences that impact the quality of life of patients. Their care is essential and begins with an accurate assessment.

Ablation of FAS confers allogeneic CD3 CAR T cells with resistance to rejection by T cells and natural killer cells.

Allogeneic chimaeric antigen receptor T cells (allo-CAR T cells) derived from healthy donors could provide rapid access to standardized and affordable batches of therapeutic cells if their rejection by the host's immune system is avoided. Here, by means of an in vivo genome-wide CRISPR knockout screen, we show that the deletion of Fas or B2m in allo- T cells increases their survival in immunocompetent mice. Human B2M allo-CAR T cells become highly sensitive to rejection mediated by natural killer (NK) cells, whereas FAS CAR T cells expressing normal levels of human leukocyte antigen I remain resistant to NK cells.