Issues
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Cover image
Cover Image
Cover: Murine tibialis anterior muscle cross-section showing infiltrating adipocytes (red). Muscle fibres (grey) are revealed using phalloidin; nuclei (blue) are stained with Hoechst 33342 dye. See article by Reggio et al. (dmm049915). Cover image is licensed under a Creative Commons Attribution 4.0 International license.
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EDITORIAL
Back to the future through the wormhole: Caenorhabditis elegans as a preclinical model
Summary: This Editorial provides a brief historical perspective on the transition of the nematode roundworm, Caenorhabditis elegans, from a purely basic research organism to a preclinical model for human disease.
OBITUARY
A MODEL FOR LIFE
PERSPECTIVE
Muscle-on-a-chip devices: a new era for in vitro modelling of muscular dystrophies
Summary: Organ-on-a-chip devices, which combine engineered 3D skeletal muscle tissues and integrated biosensors, hold great promise as a tool for studying muscular dystrophies and developing new therapies for these conditions.
REVIEWS
CYLD in health and disease
Summary: Advances in the study of the cylindromatosis gene (CYLD), utilising diverse models, provide new insights into cellular homeostasis and human diseases.
Caenorhabditis elegans for research on cancer hallmarks
Summary: This Review summarizes and promotes the use of Caenorhabditis elegans to investigate ten of the 14 cancer hallmarks that define the mechanisms of cancer.
EDITOR'S CHOICE
RESEARCH ARTICLES
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome
Summary: Loss of NR2F1, which regulates mitochondrial genes in neurons, leads to mitochondrial dysfunction and impaired neuron function, which could contribute to pathogenesis of the neurodevelopmental disorder Bosch-Boonstra-Schaaf optic atrophy syndrome.
A 3D adipogenesis platform to study the fate of fibro/adipogenic progenitors in muscular dystrophies
Summary: LY2090314 suppresses 2D and 3D adipogenesis of fibro/adipogenic progenitors by stabilizing a transcriptional-competent β-catenin complex.
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology
Summary: Kidney-on-a-chip-based in vitro models have greatly evolved and provide valuable instruments to study human kidney (patho-)physiology, contributing to the Reduction, Replacement and Refinement of animal experiments.
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal
Summary: The C921Y O-GlcNAc transferase variant found in patients with intellectual disability leads to a defect in pluripotent stem cell self-renewal and decreased levels of pluripotent stem cell markers.
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft
Summary: This study shows the effectiveness of irinotecan, eribulin, trabectedin and their combination in a patient-derived xenograft model of desmoplastic small round cell tumor, a rare and incurable malignancy.
Lack of expression of miR-29a/b1 impairs bladder function in male mice
Summary: Male mice lacking microRNA-29a/b1 develop bladder enlargement and diminished bladder contractility, associated with upregulation of genes related to extracellular matrix formation and turnover.
Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease
Summary: Mutations in the renin leader peptide or pro-segment associated with autosomal dominant tubulointerstitial kidney disease lead to misrouting of the mutated protein to mitochondria.
Ultrasound-stimulated microbubbles enhanced vascular disruption in fractionated radiotherapy-treated tumours via ASMase activation
Summary: A novel technique using ultrasound-stimulated microbubbles coupled with fractionated radiation enhanced vascular disruption in the tumour microenvironment via an ASMase-dependent mechanism.
Crosstalk between androgen receptor and WNT/β-catenin signaling causes sex-specific adrenocortical hyperplasia in mice
Editor's choice: Activation of R-spondin 1 signaling in the adrenal cortex leads to a sexually dimorphic phenotype in mice, causing hyperplasia in females and immune cell recruitment in males.
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency
Summary: Simultaneous inhibition of gba1 and smpd1 gene function (both implicated in Parkinson's disease) unexpectedly rescues neuronal gene expression and mitochondrial defects, and extends the lifespan of gba1 mutant zebrafish.
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy
Summary: Vemurafenib partially improves muscle histopathology by restoring the TGF-β/SMAD3 and mTORC1/p70S6K signaling pathways but does not improve muscle function in a mouse model of LAMA2-related-congenital muscular dystrophy.
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat
Summary: Surgical rescue of Ednrb−/− rats, a model for Hirschsprung disease, required dietary intervention for survival and showed reduced colon diameter in the aganglionic region, overall normal histology and changes in innervation.
RESOURCE ARTICLES
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells
Summary: Hypokalemic periodic paralysis model cells that allow the fluorometric evaluation of gating pore currents in a multi-well-plate format.
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes
Summary: We developed the deCLUTTER2+ pipeline to analyze calcium traces to discover spontaneous or cue-dependent patterns of Ca2+ transients, and a protocol for the generation of iPSC-derived ventral midbrain patterned astrocytes.
Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish
Summary: We report a method to rapidly analyze craniofacial development in zebrafish embryos using morphometric analysis, creating a new platform to quantitatively detect phenotypic variation after genetic alteration.
An automated microscopy workflow to study Shigella–neutrophil interactions and antibiotic efficacy in vivo
Summary: Development of an automated image analysis workflow to enable fast and reliant immune cell counting in Shigella-infected zebrafish larvae, and to reveal the in vivo impact of antibiotics on Shigella–neutrophil interactions.
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish
Summary: A new zebrafish transgenic line that labels the expression of the gene arg2 can be used to visualise immune cell polarisation and investigate the mechanisms of innate immunity during infections.
FIRST PERSON
Call for Papers – Infectious Disease: Evolution, Mechanisms and Global Health
Showcase your latest research on our upcoming Special Issue: Infectious Disease: Evolution, Mechanisms and Global Health. This issue will be coordinated by DMM Editors Sumana Sanyal and David Tobin alongside Guest Editors Judi Allen and Russell Vance. The deadline for submitting articles to this Special Issue has been extended to Monday 24 February 2025.
Biologists @ 100 - join us in Liverpool in March 2025
We are excited to invite you to a unique scientific conference, celebrating the 100-year anniversary of The Company of Biologists, and bringing together our different communities. The conference will incorporate a DMM programme on antimicrobial resistance on 26 March 2025. Find out more and register to join us in March 2025 in Liverpool, UK. The final deadline to register is 28 February 2025.
It's about time: the heterochronic background for the 2024 Nobel Prize in Physiology or Medicine
In this Editorial, Bruce Wightman writes about the groundwork laid by investigating the timing of developmental events in nematodes which led to the 2024 Nobel Prize in Physiology or Medicine.
Read & Publish Open Access publishing: what authors say
We have had great feedback from authors who have benefitted from our Read & Publish agreement with their institution and have been able to publish Open Access with us without paying an APC. Read what they had to say.