Subject collection: Developmental Disorders
- Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease
Summary: This Review highlights the physiological relevance of pulmonary neuroendocrine cells, rare airway epithelial cells that form intrapulmonary sensory organs, abnormalities of which are associated with several pulmonary disorders, such as asthma and lung cancer.
- Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB
Editor's choice: Long-term intermittent treatment with a newly developed partial agonist of the TrkB neurotrophin receptor reverses deficits in motor learning and respiration in a mouse model of Rett syndrome.
- L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1
Summary: We quantified behavioral and synaptic morphology differences between wild-type zebrafish larvae and the mariner (myo7aa−/−) mutant, finding that these differences can be modified by L-type voltage-gated calcium channel agonists.
- Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome
Summary: Retinopathies have been reported in primordial dwarfism syndromes. We show that the loss of Atrip, a gene mutated in Seckel syndrome, causes photoreceptor degeneration owing to p53-dependent apoptosis of retinal progenitors during development.
- A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.
- 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.