Issues

Summary: We provide an Editorial perspective on approaches to improve ethnic representation in the human genome reference sequence, enabling its widespread use in genomic studies and precision medicine to benefit all peoples.

Summary: Stroke imaging has undergone seismic shifts in the past decade. Although magnetic resonance imaging (MRI) is superior to computed tomography in providing vital information, further research on MRI is still required to bring its full potential into clinical practice.

Summary: This Review discusses work in different model systems and humans, examining the impact of altered protein secretion in the neuronal ceroid lipofuscinoses group of diseases to provide novel therapeutic insights.

Summary: Application of high- and low-dose gelatin to skeletal muscle revealed a bi-phasic role of gelatin in regulating skeletal muscle repair, which has translational implications for regenerative medicine.

Summary:Apoe^−/− mice administered a high-fat diet represent a model of non-alcoholic fatty liver disease, revealing the synergistic regulation of key processes in disease progression by miRNAs and indicating some miRNAs as biomarkers for diagnosis.

Summary: MAB21L1 acts as a nuclear factor that modulates not only lens-specific gene expression but also DNA/nucleotide metabolic processes during lens placode formation.

Summary: Exploitation of the medium-throughput capabilities of a zebrafish embryo infection model of tuberculosis to screen compounds for their in vivo activity, one of which was characterized as an aspartyl-tRNA synthetase inhibitor.

Summary: Oral exposure to a widely distributed pollutant resulted in exacerbated intestinal inflammation in zebrafish and mice, increased barrier permeability and altered T-cell homeostasis.

Summary: CRISPR/Cas9 genome-engineered Chst14^−/− mouse models of musculocontractural Ehlers-Danlos syndrome (mcEDS) display similar myopathic features (particularly those caused by the loss of D4ST1) to mcEDS patients and may facilitate further understanding of mcEDS.

Summary: A slow-to-fast fiber-type switch in dystrophic canine ECU muscle is revealed by contraction kinetics and myosin protein and transcript expression. This highlights the complexity of muscle remodeling in Duchenne muscular dystrophy.

Summary: We present one of the first genetic animal mutants for PCDH15 that displays a severe, early retinopathy and suggests that zebrafish could be a useful model for PCDH15-associated retinal phenotypes.

Editor's choice: A genetically tailored pig model that develops the hallmarks of Duchenne muscular dystrophy in an accelerated mode provides a new resource for testing targeted therapies.

Summary: Self-organizing spheroids of astrocytes and neurons derived from human induced pluripotent stem cells reproduce phenotypes associated with traumatic brain injury when subjected to dynamic compression.