Subject collection: Rare diseases
- Drosophila melanogaster as a function-based high-throughput screening model for antinephrolithiasis agents in kidney stone patients
Summary: Chemical library screens using Drosophila melanogaster as a model of nephrolithiasis can be performed in a high-throughput and efficient manner, leading to candidate drugs with clinical potential in kidney stone patients.
- Fetal growth restriction in a genetic model of sporadic Beckwith–Wiedemann syndrome
Summary: A novel genetic mouse model of sporadic Beckwith–Wiedemann syndrome (BWS) recapitulates placentomegaly, but placental defects lead to late gestation fetal growth restriction, which contrasts with the fetal overgrowth characteristic of BWS in humans.
- Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse
Summary: Increased levels of FGFR2c cause craniofacial bone hypoplasia, microtia and cleft palate, but not craniosynostosis. Introduction of an extra Fgfr2c allele into a mouse model for Crouzon syndrome partially rescues the craniosynostosis phenotype.
- Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans
Summary: The first Caenorhabditis elegans model to study brain dopamine-serotonin vesicular transport disease, demonstrating impairment of pharyngeal pumping and grazing phenotypes.
- Generation of mouse-zebrafish hematopoietic tissue chimeric embryos for hematopoiesis and host-pathogen interaction studies
Editor's choice: A new method to xenotransplant murine bone marrow cells into zebrafish blastulae that generates hundreds of transient chimeric animals with functional murine blood progenitor cells and innate immune cells.
- Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele
Summary: The homeobox genes Six4 and Six5 are involved in the regulation of cell proliferation and mesothelium formation in the primary body wall, and Six4−/−;Six5−/− mice are a suitable animal model for human middle-type omphalocele.
- A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies
Summary: Here, we show that a minipig model of Huntington's disease mimics human neurodegeneration and holds promise for future intervention studies. However, minipig peripheral blood mononuclear cells express no detectable mutant huntingtin, eliminating their use as monitoring tools.
- CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
Summary: NGS-based analysis reveals that CRISPR/Cas9-induced double-strand-break repair using single-stranded repair templates is error prone in zebrafish, resulting in complex patterns of integrated repair-template fragments.
- Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
Summary: By using a single-stranded DNA oligonucleotide template in combination with CRISPR/Cas9 in zebrafish, the authors achieved effective germline-transmissible introduction of patient-specific single-nucleotide changes related to cardiovascular disease.
- ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy
Summary: ENPP1 enzyme replacement therapy can have important implications for generalized arterial calcification of infancy by treating both vascular calcification and hypertension, which are the leading causes of cardiac failure and mortality in patients.