Issues
-
Cover image
Cover Image
Cover: Transmission electron microscopy image showing the ultrastructure of a cone photoreceptor synaptic terminal in 10-day-old zebrafish retina. Green and magenta outline bipolar and horizontal cell innervations, respectively. See article by Miles et al. (dmm048965), in which the authors use confocal and electron microscopy to examine photoreceptor structure and morphology defects in a novel zebrafish mutant model for the deaf-blindness disorder Usher syndrome type 1. Cover image is licensed under a Creative Commons Attribution 4.0 International license.
- PDF Icon PDF LinkTable of contents
- PDF Icon PDF LinkIssue info
EDITOR'S CHOICE
EDITORIAL
Envisioning the next human genome reference
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.
A MODEL FOR LIFE
REVIEWS
Current approaches and advances in the imaging of stroke
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.
Altered protein secretion in Batten disease
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.
RESEARCH ARTICLES
Bi-phasic effect of gelatin in myogenesis and skeletal muscle regeneration
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.
Concerted regulation of non-alcoholic fatty liver disease progression by microRNAs in apolipoprotein E-deficient mice
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.
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode
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.
An anti-tuberculosis compound screen using a zebrafish infection model identifies an aspartyl-tRNA synthetase inhibitor
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.
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation
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.
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing
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.
Extensor carpi ulnaris muscle shows unexpected slow-to-fast fiber-type switch in Duchenne muscular dystrophy dogs
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.
Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish
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.
RESOURCE ARTICLES
A scalable, clinically severe pig model for Duchenne muscular dystrophy
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.
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes
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.
FIRST PERSON
DMM Journal Meeting 2024: Pre-clinical Modelling of Human Genetic Disease and Therapy

Registration is now open for our 2024 Journal Meeting. Rapid advances in gene editing and genetic technologies have revolutionised our ability to model human genetic disease and provided new hope for gene therapies. At this Meeting, we will present the very latest advances in modelling human genetic disease.
Moving towards heart success – Disease Models & Mechanisms Special Issue

DMM's most recent special issue compiles articles that aim to move heart failure to heart success by fundamentally addressing the roots of failure to identify curative strategies.
Crossroads in Virology

Our October Editorial written by Sumana Sanyal emphasises the urgency of a concerted effort in understanding virus–host interactions to inform the development of therapeutics and vaccines, helping to predict disease outcomes. Read the full Editorial here.
A Model for Life - an interview with Professor Kiran Musunuru




Read our new A Model for Life interview with Kiran Musunuru. Prof Musunuru investigates the mechanisms of disease in model systems, with the ultimate goal of developing innovative gene editing therapies.
Sustainable Conferencing Initiative

Through our Sustainable Conferencing Grants, we promote the use of new technology and greener modes of travel. Our blog posts showcase examples of sustainability in action and share experience about how new technologies and conference formats work in practice.