František Špoutil

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

FAM83H regulates postnatal T cell development through thymic stroma organization

This study shows that FAM83H is essential for thymic stroma organization and T cell development, as its deficiency leads to impaired thymic architecture and reduced T cell production.

Post-transcriptional control of enamel matrix mineralization by TENT5A-mediated cytoplasmic polyadenylation

This study shows TENT5A polyadenylates enamel matrix protein mRNAs, enhancing their stability and translation, which is essential for proper enamel mineralization.

Cytoplasmic polyadenylation by TENT5A is required for proper bone formation

This study identifies TENT5A as a cytoplasmic poly(A) polymerase essential for collagen production and bone formation, revealing its role in osteogenesis imperfecta type XVIII.