Issues
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Cover image
Cover Image
Cover: Mouse carrying the Y130C mutation in the Mek1 gene provides a new model for cardio-facio-cutaneous syndrome (CFC), presenting cranial, neurological and cardiac phenotypes similar to those observed in CFC individuals. Consistent with other RASopathy-linked mutations, analysis of GFAP-labeled astrocytes in hippocampal CA1 revealed a significant increase in the density of GFAP+ cells, suggesting astrogliosis occurring in a range of neuropathological states. See article by Aoidi et al. (dmm031278). Cover image is licensed under a Creative Commons Attribution 4.0 International license.
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REVIEW
Metastasis in context: modeling the tumor microenvironment with cancer-on-a-chip approaches
Summary: This Review evaluates the recent contributions of cancer-on-a-chip models to our understanding of the tumor microenvironment and its role in the onset of metastasis. The authors also provide an outlook for future applications of this emerging technology.
RESEARCH ARTICLES
Neutrophil-specific knockout demonstrates a role for mitochondria in regulating neutrophil motility in zebrafish
Summary: Using CRISPR/Cas9-mediated neutrophil-specific knockout, a requirement for mitochondrial DNA polymerase, electron transportation chain and superoxide dismutases in neutrophil migration is demonstrated in zebrafish, providing genetic evidence of the immunodeficiency seen in mitochondrial disease patients.
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model
Summary: The characterization of a novel Drosophila model of NDUFS4 mitochondrial disease revealed a pronounced defect in feeding abilities and recapitulated additional human disease features.
Lymphoblastoid cell lines as a model to understand amyotrophic lateral sclerosis disease mechanisms
Summary: The identification of a patient-specific and non-invasive model is crucial in ALS research. Here, the authors present a reliable characterization of lymphoblastoid cell lines from both sporadic and mutated ALS patients.
The role of the microRNA-146a/complement factor H/interleukin-1β-mediated inflammatory loop circuit in the perpetuate inflammation of chronic temporal lobe epilepsy
Summary: The microRNA-146a–complement factor H–interleukin-1β loop circuit might initiate a cascade of inflammation, leading to the perpetuate inflammation in temporal lobe epilepsy.
Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos
Summary: Disruption of Vangl2-dependent planar-polarised processes in the posterior neuropore (PNP) neuroepithelium and surface ectoderm preclude zippering point biomechanical accommodation associated with Closure 5 formation at the completion of PNP closure.
Identification of protective postexposure mycobacterial vaccine antigens using an immunosuppression-based reactivation model in the zebrafish
Summary: We characterize the reactivation of a latent mycobacterial infection and identify DNA-based vaccine candidates against the reactivation of tuberculosis using the adult zebrafish Mycobacterium marinum infection model.
Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome
Summary: A mouse model for cardio-facio-cutaneous syndrome caused by MEK1 Y130C mutant protein reveals the role of hyperactivation of the RAS/MAPK pathway in the development of the syndrome.
Altered expression of the Cdk5 activator-like protein, Cdk5α, causes neurodegeneration, in part by accelerating the rate of aging
Editor's choice: By developing a comprehensive and quantitative metric for physiological age of Drosophila, we show that a neurodegeneration mutant produces its effects in part by accelerating the absolute rate of aging.
Vitamin D deficiency in the ApcPirc/+ rat does not exacerbate colonic tumorigenesis, while low dietary calcium might be protective
Summary: Using rat models of familial and inflammation-induced colon cancer, this study demonstrates that vitamin D deficiency does not increase risk of developing disease, and that low dietary calcium might be protective.
Identification of early indicators of altered metabolism in normal development using a rodent model system
Summary: This study suggests an important link between the early embryonic environment and later adult physiology and pathology. At least one process by which this might be coordinated is through the regulatory mechanisms mediated by Dnmt1.
RESOURCE ARTICLE
Disease Ontology: improving and unifying disease annotations across species
Summary: Analyzing diverse disease data requires a comprehensive, robust disease ontology to integrate annotations and retrieve accurate, interpretable results. MGD, RGD and DO are working in collaboration to achieve this goal.
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.