Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
Summary: The ulnar-mammary syndrome (UMS) gene, Tbx3, is required for development of posterior forelimb bones, muscles and their attachment sites. This broadens the UMS phenotype and suggests a new muscle-specification model.
Summary: The specific hepatic expression of insulin receptor isoform A, but not isoform B, is able to revert, in the long term, the global glucose intolerance observed in diabetic mice.
Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4
Summary: A forward genetic screen approach unveils a new mechanism, involving Nr2f1 and/or A830082K12Rik overexpression in neural crest cells, that could promote development of Waardenburg syndrome and Hirschsprung disease.
Editors' choice: Cultured Parkinson's disease lymphocytes are metabolically hyperactive, suggesting a new understanding of the underlying cytopathology and biomarkers for this and potentially other neurodegenerative diseases.
Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model
Summary: This work illustrates how a specific genetic predisposition in combination with exposure to an environmental factor can result in a severe birth defect, providing a new opportunity to develop prevention strategies.
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model
Summary: Chemical chaperone 4PBA fully restores Cl− conductance activity for mutant bestrophin-1 proteins associated with inherited retinal dystrophy, autosomal recessive bestrophinopathy.
Cartilage damage and bone erosion are more prominent determinants of functional impairment in longstanding experimental arthritis than synovial inflammation
Summary: Gait-profile assessment is an objective quantitative measurement to monitor functional impairment in arthritis models. Longstanding functional impairment correlates with inflammation-driven structural damage.
Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish
Summary: Expression of thyroid transporter specifically in the blood–brain barrier of zebrafish, and pharmacological treatments with thyroid hormone analogs and clemastine, rescue myelin deficiencies.
Summary: We assessed the presence of HSV types 1 and 2 in the brain tissue of a large non-institutionalised autopsy cohort, providing evidence of asymptomatic access of HSV to the brain.
Photoperiod induced obesity in the Brandt's vole (Lasiopodomys brandtii): a model of ‘healthy obesity’?
Summary: Obesity induced by long-day photoperiod in voles is not accompanied by impaired glucose tolerance or insulin sensitivity and might be a useful model of ‘healthy obesity’.
Summary: The interaction of the long form of latent-transforming growth factor beta-binding protein 4 and fibulin-4 is essential for survival as well as for the formation of elastic fibers.
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation
Summary: In a GALT-deficient Drosophila model of classic galactosemia, Gal-1P accumulation is not required for compromised larval survival following galactose exposure or adult movement and fecundity phenotypes.
Inhibition of vascular endothelial growth factor signaling facilitates liver repair from acute ethanol-induced injury in zebrafish
Summary: Inhibition of VEGF signaling enhances recovery from acute ethanol-induced injury in the livers of zebrafish larvae, by directly suppressing fibrogenesis and angiogenesis, and indirectly ameliorating hepatic steatosis.
High- and ultrahigh-field magnetic resonance imaging of naïve, injured and scarred vocal fold mucosae in rats
Summary: Magnetic resonance imaging is shown to allow the nondestructive assessment of acute injury and scar formation in vocal fold mucosa, as demonstrated ex vivo using a preclinical rat model.
Summary: Development and systematic characterisation of an in vitro otopathogenic infection model of the murine middle ear epithelium as a tool to better understand the complex pathophysiology of Otitis media.