Subject collection: Developmental Disorders
- Disturbed nitric oxide signalling gives rise to congenital bicuspid aortic valve and aortopathy
Summary: Nitric oxide defects link bicuspid aortic valve formation and aortopathy through inhibition of elastic fibre formation in vascular smooth muscle cells within the ascending aorta of Nos3−/− mice.
- Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down syndrome
Summary: Comparative analyses of temporal cohorts of the Ts65Dn mouse model of Down syndrome reveal phenotypic variability affecting neurodevelopment and learning and memory behaviors, calling into question the validity of this model.
- Cercosporamide inhibits bone morphogenetic protein receptor type I kinase activity in zebrafish
Summary: Cercosporamide, a metabolite from the fungus Ascochyta aquiliqiae, was identified as a potent bone morphogenetic protein receptor (BMPR) type I kinase inhibitor through a zebrafish embryo phenotypic screen.
- The transcription factor Maz is essential for normal eye development
Summary: Our study has uncovered Maz as an important regulator of eye development in humans and mice, striving to elucidate the role of this gene in eye abnormalities associated with the human ch16p11.2 microdeletions and microduplications.
- Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV
Summary: We show that loss of the lysosomal channel TRPML1, responsible for mucolipidosis IV, leads to delayed maturation of oligodendrocytes in early postnatal development, resulting in brain hypomyelination.
- Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
Summary: Human TCF4, a bHLH transcription factor, is associated with intellectual disability and schizophrenia. Here, we propose a Drosophila model for human disease studies using the fruit fly TCF4 orthologue, Daughterless.
- Temporal patterning in neural progenitors: from Drosophila development to childhood cancers
Summary: Temporal patterning is the mechanism by which neural progenitors change their competence and proliferative properties during development. Recent data suggest that co-opted temporal patterning could govern tumor growth in neural cancers with developmental origins.
- Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies
Summary: Human stem cell culture methods enable the generation of extracellular matrix-containing tissue to study patient-specific pathology and experimental treatment of the α-dystroglycanopathies.
- Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila
Summary: A Drosophila model of a human YPEL3 variant was generated and used to discover that the human variant alters neuronal communication through a loss-of-function mechanism.
- Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Editor's choice: The functions of two endocytic adaptor proteins, PHETA1/2, are determined using zebrafish mutants and a potentially disease-causing variant of human PHETA1. Findings suggest essential roles in craniofacial and renal development.