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dmmjournal.bsky.social
DMM Journal
@dmmjournal.bsky.social
3.1K followers 100 following 280 posts
Disease Models & Mechanisms - discovery for human health. A
@biologists.bsky.social Open Access journal that publishes human disease research.
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dmmjournal.bsky.social
DMM is supporting the Developmental origins of #PaediatricCancer symposium. Discover the latest cutting-edge research on the modelling, biology and treatment in the field.

Abstract submission until 28 Feb 2026

Info www.cclg.org.uk/information-...
Registration www.tickettailor.com/events/cclg/...
December 8, 2025 at 12:17 PM
dmmjournal.bsky.social
Max Gijsbertsen, Jeroen van de Peppel & co established three patient-derived iPS cell lines for in vitro modelling of #craniosynostosis syndromes, #congenital conditions in which the baby's skull bones fuse earlier than they should.
Read bit.ly/48kjGYS

#raredissease
@erasmusmc.bsky.social
December 5, 2025 at 12:00 PM
dmmjournal.bsky.social
Read about the disease-focused expansion of The Mammalian Phenotype Ontology and its improved alignment with the Human Phenotype Ontology in a recently published article by Susan Bello, Cynthia Smith & co: bit.ly/4amknlO

@modcur.bsky.social @jacksonlab.bsky.social @mousegenome.bsky.social
December 4, 2025 at 12:01 PM
dmmjournal.bsky.social
Learn about the inspiration behind Kaitlyn Rutter's 1st-author paper with Susan Brockerhoff & co, which uses #ZebrafishModel to explore links between de novo purine synthesis enzyme mutations and cone photoreceptor degeneration.
#retinopathy

Interview bit.ly/3MmoeW1
Paper bit.ly/4ixBIdt
December 3, 2025 at 12:01 PM
dmmjournal.bsky.social
Kaitlyn Rutter, Susan Brockerhoff & co generated a #ZebrafishModel carrying mutations in the enzyme required for de novo purine synthesis, then examined how these mutations affected cone photoreceptor degeneration, a process that typically results in blindness. #retinopathy Read more bit.ly/4ixBIdt
December 2, 2025 at 12:00 PM
dmmjournal.bsky.social
@cpschaaf.bsky.social & his team developed two new mouse models of the Bosch-Boonstra-Schaad optic atrophy syndrome, carrying patient-specific Nr2f1 variants and capturing key aspects of the #BBSOAS, offering insights into genotype-phenotype links underlying the syndrome.
#raredisease
bit.ly/4rsjQVC
December 1, 2025 at 12:02 PM
dmmjournal.bsky.social
In a new paper from Braunreiter, Kabadi & co @sarepta.com humanized mouse model of #DuchenneMuscularDystrophy displays molecular & functional deficits of #DMD that were restored by human-targeted therapy confirming its suitability for developing new treatments
journals.biologists.com/dmm/article/...
Histological comparison of muscle tissues from hDMD/mdx (control) and hDMDΔ52/mdx (humanized model of Duchenne muscular dystrophy) mice at 4, 16, 20, and 52 weeks. Panel A shows Masson’s trichrome-stained diaphragm sections, highlighting increased blue-stained fibrosis in hDMDΔ52/mdx over time. Panel B quantifies diaphragm fibrosis, with hDMDΔ52/mdx exhibiting significantly higher percentages at all ages (****P<0.0001). Panel C displays H&E-stained tibialis anterior muscle, revealing structural differences and more central nuclei in hDMDΔ52/mdx. Panel D quantifies central nuclei, showing marked elevation in hDMDΔ52/mdx across ages. Panel E plots fiber diameter distributions for both genotypes, indicating altered muscle morphology in hDMDΔ52/mdx.
November 28, 2025 at 10:01 AM
dmmjournal.bsky.social
In a #Drosophila model of #spinocerebellar ataxia 3 Animesh Banerjee, Sherry Shiying Aw & co @astar-gis.bsky.social show that tremor primarily arises from GABAergic dysfunction within the adult ventral nerve cord, identifying a subset of ~30 impaired neurons

📰https://bit.ly/4oMz8CM
November 27, 2025 at 12:50 PM
dmmjournal.bsky.social
Meet Lucie Perillat, 1st author of paper with Ronald Cohn & co that characterized the long-term effects of a Becker #MuscularDystrophy (BMD)-like deletion of Dmd exons in mice. This sheds light on BMD pathology and mechanisms

👩🏽‍🔬https://bit.ly/4o8aFXk
📰http://bit.ly/49wQ6jP
Image of Lucie Perillat
November 26, 2025 at 12:27 PM
dmmjournal.bsky.social
We have a fantastic line up of speakers for our 2026 Journal Meeting organised by @amatrudalab.bsky.social, @bandolab.bsky.social, @banitolab.bsky.social and Elaine Mardis @nationwidekids.bsky.social!

🚨Register your interest now so you're first to get updates🚨

www.biologists.com/meetings/dmm...
Graphic for the Disease Models & Mechanisms meeting: “Innovative Preclinical Models for Pediatric Cancer Research”. This is scheduled for 13–15 October 2026 at Nationwide Children’s Hospital Conference Center in Columbus, Ohio, USA. The design includes a green button labeled “Register your interest,” and a microscopy image of fluorescent cells.
November 25, 2025 at 11:54 AM
dmmjournal.bsky.social
This paper from Minakawa, Seki & co generated 2nd generation transgenic marmoset models of #Spinocerebellar ataxia 3 that replicated progressive motor deficits and neuropathology & provides a powerful platform for studying this disease

journals.biologists.com/dmm/article/...
Histological panel showing degeneration and inclusion body formation in tissues from marmoset model of polyglutamine disease. (A,B) Cerebellum stained with anti-calbindin and anti-GFAP reveals Purkinje cell loss and astrocytic gliosis. (C–H) Lumbar spinal cord sections stained with anti-GFAP, Klüver-Barrera, H&E, anti-1C2, and anti-ubiquitin display demyelination, neuronal degeneration, and ubiquitin-positive inclusions. (I–L) Electron microscopy images show ultrastructural details of inclusion bodies with dense filamentous aggregates. (M,N) Cerebrum stained for GFAP and ubiquitin indicates astrocytic activation and protein inclusions. (O,P) Brainstem sections with anti-Iba1 highlight microglial activation. (Q,R) Peripheral nerve and dorsal root ganglion stained with Toluidine Blue and anti-ubiquitin show axonal degeneration and inclusions. (S,T) Skeletal muscle stained with Hematoxylin and Eosin and anti-1C2 reveals fiber atrophy and nuclear inclusions. Scale bars from 500 μm to 1 μm.
November 24, 2025 at 12:17 PM
dmmjournal.bsky.social
A new #DMMPerspective from Wenqing Xu & @aleprigio.bsky.social explores increasing evidence of #neurodevelopmental aspects in #HuntingtonsDisease & early interventions that might lead to prevention or delay of the disease pathology

journals.biologists.com/dmm/article/...
Diagram illustrating altered neurodevelopment in Huntington’s disease (HD) and proposed early interventions. The top row shows a healthy brain trajectory: wild-type huntingtin (wtHTT) supports normal development from a healthy developing brain to a healthy adult brain. The bottom row shows HD trajectory: presence of mutant huntingtin (mHTT) leads to an aberrant developing brain and later regional brain atrophy. Below, two intervention strategies to preserve developmental compensation are shown: Cell-autonomous approaches target stress response mechanisms (CHCHD2, DRP1, ATM, HSF1, other factors) to preserve mitochondrial health; Non-cell-autonomous approaches support intercellular communication, with compensation by cerebellum, healthy cells, and glial cells.
November 21, 2025 at 7:03 PM
dmmjournal.bsky.social
Our latest #EditorsChoice from Katschke, Jeanne & co @genentech.bsky.social investigated the role of HTRA1 in samples from patients with age-related macular degeneration & mouse models

EC highlight & article:
⚡https://tinyurl.com/ze3czu7r
📰 tinyurl.com/ynhhw5b4
Image of mouse eye section stained with H&E for histological characterization of retinal degeneration due to phototoxicity from constant light exposure. WT HTRA1 was overexpressed in this mouse.
November 21, 2025 at 11:57 AM
dmmjournal.bsky.social
The Tumour Ecosystem conference in Bergamo, Italy (17-19 Mar 2026) is an opportunity to gain a deeper understanding of the latest exciting breakthroughs on multiple aspects of the tumour microenvironment: bit.ly/4owGcUm
@helloeacr.bsky.social
November 21, 2025 at 10:47 AM
dmmjournal.bsky.social
Meet Jack Barrington, 1st author of paper with Stuart Allan & co showing complex IL1 functions during acute intracerebral #haemorrhage. Jack also received a DMM grant to present this at an international conference

🧑🔬https://tinyurl.com/3fmra89p
📰https://tinyurl.com/y5tcmajm
Image of Jack Barrington
November 20, 2025 at 4:31 PM
dmmjournal.bsky.social
We are pleased to be a media partner for the
@embl.org
Conference: The new cardiobiology: engineering, vascular, and molecular insights, 16 - 19 Feb 2026
Abstract submission: 17 Nov 2025
Registration (On-site): 5 Jan 2026
Registration (Virtual): 9 Feb 2026
bit.ly/43BGa4V
EMBL Conference The new cardiobiology: engineering, vascular, and molecular insights
November 17, 2025 at 1:11 PM
dmmjournal.bsky.social
In our latest Editorial, members of the COST Action TEATIME CA20135 welfare group advocate for automation in animal research alongside advances in AI and machine learning to enhance rigor, robustness and translatability of animal studies

journals.biologists.com/dmm/article/...
Image depicting multiple opportunities for home cage monitoring systems in the future in collaboration with AI and computer science.
November 17, 2025 at 11:16 AM
dmmjournal.bsky.social
New Review from James Amos-Landgraf & colleagues @umissouripress.bsky.social provides guidance on selecting suitable animal models for specific disease aspects of #COVID19 to improve translatability of studies

journals.biologists.com/dmm/article/...
Diagram comparing ACE2 amino acid sequences across seven species and their susceptibility to SARS-CoV-2 infection. Left shows species list with illustrations: human, African green monkey, rhesus macaque, cynomolgus macaque, mouse, Syrian hamster, and ferret. Right shows a color-coded alignment of ACE2 amino acids at key positions (19–83 and 152–357). Colors indicate amino acid properties: green for hydrophobic (F, G, L, M), purple for polar (N, S, Q, T, Y), blue for basic (H, K, R), and red for acidic (D, E). Humans and primates share similar sequences, correlating with natural susceptibility. Syrian hamster and ferret also show similarity. Mouse differs at multiple positions, replacing hydrophobic residues with polar or charged ones, explaining its resistance and need for transgenic models.
November 14, 2025 at 2:45 PM
dmmjournal.bsky.social
This new Resources & Methods paper from Gyanu Lamichhane & co at John Hopkins establishes a cost-effective BALB/c mouse model of #Mycobacterium abscessus #LungInfection for preclinical drug evaluation and facilitating the development of new treatments

journals.biologists.com/dmm/article/...
Cover for DMM's Infectious Disease Special Issue. Three-dimensional volume render of tuberculosis granulomas in C3HeB/FeJ mice infected with E2Crimson-expressing Mycobacterium tuberculosis. Turquoise outlines mark the granuloma boundary, infecting bacteria are highlighted in red. Images were captured by light-sheet fluorescence microscopy and rendered in 3D at day 42 and day 70 post infection, revealing the spatial architecture of lesions and the pathogen distribution deep within intact lung tissue. See article by Beltran et al. (https://journals.biologists.com/dmm/article/18/9/dmm052185/367500/Correlative-3D-imaging-method-for-analysing-lesion). Cover image is licensed under a Creative Commons Attribution 4.0 International license.
November 14, 2025 at 10:30 AM
dmmjournal.bsky.social
For our #InfectiousDisease Special Issue we interviewed Dr Sifumba Zolelwa who discusses how her experience as a #tuberculosis survivor, along with her training as a medical doctor, complements her work as a #PatientAdvocate

journals.biologists.com/dmm/article/...
Sifumba Zolelwa
November 13, 2025 at 1:31 PM
dmmjournal.bsky.social
This Perspective from Dilys Santillo, Evangelos Bellos & Vanessa Sancho-Shimizu explores common gut immunity functions in multisystem inflammatory syndrome in children, #IBD & Kawasaki disease to inform prevention & treatment @imperialcollegeldn.bsky.social
journals.biologists.com/dmm/article/...
Cover image for DMM's Infectious Disease Special Issue. Three-dimensional volume render of tuberculosis granulomas in C3HeB/FeJ mice infected with E2Crimson-expressing Mycobacterium tuberculosis. Turquoise outlines mark the granuloma boundary, infecting bacteria are highlighted in red. Images were captured by light-sheet fluorescence microscopy and rendered in 3D at day 42 and day 70 post infection, revealing the spatial architecture of lesions and the pathogen distribution deep within intact lung tissue. See article by Beltran et al. (https://journals.biologists.com/dmm/article/18/9/dmm052185/367500/Correlative-3D-imaging-method-for-analysing-lesion).
November 12, 2025 at 12:01 PM
dmmjournal.bsky.social
Check out this Review for our Special Issue from Rachael Dangarembizi, Amalia Awala & Anja de Lange from the University of Capetown on #neuroinflammation during #fungal infection, which is an essential host defence but also contributes to neuropathology

journals.biologists.com/dmm/article/...
Illustration of central nervous system (CNS) immune barriers against fungal pathogens. (A) Cross-sectional diagram of meninges showing dura mater, arachnoid mater, and pia mater surrounding the brain, with meningeal blood and lymphatic vessels, immune cells (T cells, B cells, macrophages, dendritic cells, microglia), neurons, and extracellular matrix. These layers restrict fungal entry while allowing immune surveillance. (B) Close-up of a dural blood vessel with fenestrations lacking tight junctions, enabling immune cell access but potentially fungal entry. (C) Blood–brain barrier detail: endothelial cells with tight junctions, pericytes, astrocyte end-feet, and basement membrane forming a barrier around small vessels supplying parenchyma. (D) Blood–cerebrospinal fluid barrier at choroid plexus: cuboidal epithelial cells with tight junctions and fenestrated endothelium lining ventricles. Key indicates cell types and structures.
November 11, 2025 at 2:45 PM
dmmjournal.bsky.social
In this Resources & Methods paper, Victoria Ektnitphong, @michaelshiloh.bsky.social & co developed a humanized lung-on-a-chip model that revealed early immune responses to a non-tuberculous #mycobacterium relevant for drug discovery

journals.biologists.com/dmm/article/...
Figure showing Mycobacterium fortuitum infection in an alveolus-on-a-chip (ALoC) without macrophages. Includes: (A) schematic of infection process; (B, C) fluorescent images and 3D reconstruction of infected ALoC with AT1 (magenta), AT2 (green), bacteria (white), and nuclei (blue); (D) Single z-slice of uninfected ALoC showing AT1, AT2, and mixed AT1/AT2 cells (asterisks), nuclei in blue. (E) Pie chart of cell-type proportions in uninfected ALoCs: AT1 (42%), AT2 (41%), AT1/AT2 (17%). (F) Single z-slice of infected ALoC showing AT1, AT2, and mixed AT1/AT2 cells (asterisks), nuclei in blue. (G) Pie chart of cell-type proportions in infected ALoCs: AT1 (44%), AT2 (34%), AT1/AT2 (22%). Scale bars: 30–50 µm.
November 11, 2025 at 11:30 AM
dmmjournal.bsky.social
Two closely related fungi – Cryptococcus deneoformans (Cd) and Cryptococcus neoformans (Cn) – can cause serious infections. Charles-Niño & co explore how Cd and Cn respond to temperature and how they interact with human tissues, including infection. doi.org/10.1242/dmm....
Cn and Cd skin infection pathogenesis and host responses. In cutaneous wounds infected with Cn H99 strain, there is a massive increase in cellular recruitment to the damaged tissue and substantial release of immune molecules (e.g. MPO and proinflammatory cytokines) compared to that in wounds infected with Cd B3501 strain. High GXM release occurs in the superficial area of the wound infected by H99, whereas hsp60 and hsp70 are highly expressed in dermal tissue as temperature increases due to inflammation, which results in increased wound healing. In cutaneous wounds infected with Cd B3501 strain, robust biofilm formation on the surface of the wound takes place, facilitating fungal survival. There is also a reduction in cellular infiltration and immune molecule production, resulting in delayed wound healing. hsp60 and hsp70 expression in Cd strains is less than that in Cn strains. Created in BioRender by Charles-Niño, C. L. (2025). https://BioRender.com/h63r638.
November 6, 2025 at 2:26 PM
dmmjournal.bsky.social
Read our interview with Caroline Beltran, who conducted this research while a postdoc in Gerhard Walzl's lab at Stellenbosch University, South Africa. doi.org/10.1242/dmm....
Caroline Beltran
November 6, 2025 at 9:01 AM