Subject collection: Developmental Disorders
- Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
Summary: Branchio-otic/branchio-oto-renal syndromes result in craniofacial defects including deafness. Four of the known human SIX1 mutations cause differential changes in craniofacial gene expression and otic morphology when expressed in Xenopus embryos.
- Establishment and validation of an endoplasmic reticulum stress reporter to monitor zebrafish ATF6 activity in development and disease
Summary: In this study, we validate transgenic zebrafish generated to specifically report the activity of ATF6, representing a major branch of the endoplasmic reticulum stress pathway with functions in development and disease.
- Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
Summary: This article shows, for the first time, that a synthetic vinyl-ether plasmalogen is orally bioavailable and bioactive in vivo following administration in animals.
- A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress
Summary: A zebrafish model of reticular dysgenesis reveals hair cell developmental deficits that can be partially rescued by antioxidants, pointing to their potential use as a therapeutic treatment for reticular dysgenesis patients.
- Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis
Summary: Loss of Prmt5 in osteochondral progenitors impairs terminal hypertrophic chondrocyte differentiation, leading to defects in endochondral bone formation and models infantile idiopathic scoliosis in mouse.
- Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid
Summary: Neural tube defects in a folic-acid-responsive, folate-sensitive mouse model are associated with a localised proliferation defect in the neuroepithelium. Supplemental folic acid stimulates progression through S phase to correct this abnormality.
- Impaired neural differentiation and glymphatic CSF flow in the Ccdc39 rat model of neonatal hydrocephalus: genetic interaction with L1cam
Summary: Glymphatic CSF circulation and development of the cerebral cortex are impaired in our new genetic rat model of neonatal hydrocephalus with the onset of parenchymal inflammation and hemorrhage.
- Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients
Summary: The authors identified and characterized a medaka mutation in titin that leads to a phenotype similar to hypertrophic cardiomyopathy. Similar mutations were also observed in human patients.
- Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects
Summary: Encephalocele is a severe congenital brain defect that arises after neural tube closure, but can share a common genetic cause with defects of cranial and spinal neural tube closure.
- Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice
Summary: Wfdc2 is vitally important in preventing atelectasis and dysfunction of barrier mechanisms such as mucociliary clearance, intercellular junction formation and anti-inflammatory activity.