DMM Journal
@dmmjournal.bsky.social
3K followers 100 following 230 posts
Disease Models & Mechanisms - discovery for human health. A @biologists.bsky.social Open Access journal that publishes human disease research.
Posts Media Videos Starter Packs
Pinned
dmmjournal.bsky.social
📩 We invite you to submit your latest research for our upcoming special issue on #InVitroModels of #HumanDisease.

Why publish?
🎓Expert academic editors: @vivianlilab.bsky.social , @ausmith.bsky.social & Joseph Wu
🌎Global visibility & impact

📅3 November 2025

bit.ly/4h1092r
Special Issue In Vitro Models of Human Disease to Inform Mechanism and Drug Discovery

Edited by Vivian Li, Austin Smith and Joseph Wu

Extended deadline: 3 November 2025
dmmjournal.bsky.social
Homps-Legrand, @arnaud-mailleux.bsky.social & co reveal a novel mesenchymal cell subpopulation, identified by the Prrx1 transcription factor, that emerges during lung fibrosis in mice and exhibits protective, anti-scarring properties. 🐭 🫁
doi.org/10.1242/dmm....
Identification of cells expressing the Prrx1enh promoter in the lung and ventral skin at baseline. (A) Timeline of vehicle and tamoxifen treatments. Prrx1:CreERT2; Rosa26iTomato naive (Prrx1enh-tdT) mice were injected with vehicle or tamoxifen every day for 5 days. Lungs and ventral skin were collected at Day 10 after a wash-out time of 5 days. (B) Representative tdTomato immunohistochemistry (n=5 to 6 per group, brown staining) in Prrx1enh-tdT mouse lungs (left column) or ventral skin (right column) treated with either vehicle (top row) or tamoxifen (bottom row). Nuclei were counterstained with Haematoxylin. Left column: note the absence of tdTomato staining in the lungs collected from both vehicle- and tamoxifen-treated animals. Right column: note the few tdTomato-positive areas in the vehicle-treated animals (Cre leakage) compared to the numerous tdTomato-positive areas in the tamoxifen-treated group. Scale bar: 50 µm. (C) Quantification of the area of tdTomato-positive cells (% of section) in the lung (circles; n=5) and skin (squares; n=5 to 6) after vehicle (filled) or tamoxifen (open) treatment; data shown as dot plots with median. Nuclei were counterstained with Haematoxylin. Mann–Whitney U-test: ***P≤0.001. The absence of statistical labelling indicates non-significative results.
dmmjournal.bsky.social
📩 We invite you to submit your latest research for our upcoming special issue on #InVitroModels of #HumanDisease.

Why publish?
🎓Expert academic editors: @vivianlilab.bsky.social , @ausmith.bsky.social & Joseph Wu
🌎Global visibility & impact

📅3 November 2025

bit.ly/4h1092r
Special Issue In Vitro Models of Human Disease to Inform Mechanism and Drug Discovery

Edited by Vivian Li, Austin Smith and Joseph Wu

Extended deadline: 3 November 2025
dmmjournal.bsky.social
In this Editor's Choice, Maggiore, Zhu @haozhulab.bsky.social and colleagues reveal the high clinical potential of GalNAc-siRNA-based strategies for preventing hepatocellular carcinoma development in high-risk individuals, particularly through targeting ANLN. doi.org/10.1242/dmm....

#HCC #cancer
siCdk1 and siAnln decreased tumor burden in the DEN/PB HCC model. (A) Schematic overview of DEN/PB mouse model. At 2 weeks of age, male mice on the C3H strain background were given a single injection of DEN (25 mg/kg) 4 weeks before the start timepoint (-4w). At 6 weeks of age, mice were placed on 0.05% PB drinking water [start timepoint of 0 weeks (0w)]. Mice were injected with siRNA every other week starting at 12 weeks of age (6w), for a total of nine doses (with 5 mg/kg per dose) and sacrificed 1 week after the final dose (23w). (B) Liver weights for DEN/PB mice at 23 weeks after starting PB water, i.e. the final time point. (C) Liver-to-body-weight ratio for DEN/PB mice at the final time point. (D) Representative images of livers from DEN/PB mice at the final time point. (E) Surface tumor numbers were quantified using front and back images of each liver. (F) Representative immunofluorescence images of DEN/PB livers obtained from mice as indicated. Staining was against GS (red) to indicate the degree of WNT activation. Tumors are outlined by yellow dashed lines. One GS+ tumor was seen in the PBS group. Nuclei were stained with DAPI (blue). Scale bars: 800 μm. For panels B, C and E, the P-values with respect to the PBS group are shown above each group.
dmmjournal.bsky.social
Aashi Gurijala & co show that combined fragile X syndrome and glycogen storage disease type IX Drosophila genetic disease models demonstrate an essential interaction between dFMRP and dPHKA2 functions. doi.org/10.1242/dmm....

#Drosophila
Glycogen storage disease type IX (GSD-IX) and fragile X syndrome (FXS) disease models combine to cause synthetic lethality. (A) Adult survival as a percentage of that expected for the genetic background control (w1118), the GSD-IX disease model (dPHKA2 null), the FXS disease model (dFmr1 null) and the combined double knockout (DKO) model. Scatter plots show the data points from three independent trials with the mean±s.e.m. Significance is quantified using Kruskal–Wallis followed by a Dunn's multiple-comparisons test. *P≤0.05; ns, not significant (P>0.05). (B) Representative images show recently eclosed juvenile adult males of all four genotypes. Rare DKO escapers eclose at a very low frequency, but always die as young juveniles. The flies are shown on their sides, with anterior to the left, posterior to the right, and legs projecting upwards. Scale bar: 0.5 mm.
Reposted by DMM Journal
danielvoliveira.bsky.social
Grateful to the Company of Biologists and @dmmjournal.bsky.social for awarding me a Travel Grant to attend Notch Meeting XIII, starting today in Athens! 🇬🇷
Excited to share our latest work and connect with the amazing Notch community. #DMMgrants #NotchMeeting2025 #NotchSignaling #Notch #Liverdisease
dmmjournal.bsky.social
In this #DMMPerspective, Diane Sepich & co discuss how pre-clinical models of adolescent idiopathic scoliosis (AIS) are urgently needed to speed etiologic and therapeutic discoveries, even if they do not perfectly recapitulate all aspects of the disease.

doi.org/10.1242/dmm....

#scoliosis
Adolescent idiopathic scoliosis (AIS) is a spine growth disorder caused by interplay (depicted as puzzle pieces) of the effects of genetics, sex hormones and mechanical stress on the spine during rapid growth. Missing pieces represent our current lack of understanding of AIS etiology.
dmmjournal.bsky.social
In this Perspective, Nicole Eskow & Eva Hernando review current #cancer metastasis models, highlight advances and gaps, and advocate open data sharing to enhance model selection, experimental rigour and clinical relevance. doi.org/10.1242/dmm....
Metastasis is a complex multi-tissue event. For tumor cells to metastasize, they must undergo a highly inefficient and demanding process during which they enter the lymphatic and/or hematogenous vasculature and seed a foreign microenvironment. Tumor cells must, therefore, acquire genetic and epigenetic alterations that enable their ability to survive each step of the metastatic cascade, including immune evasion, shear stress and organ-specific adaptations. Original figure produced by Uta Mackensen.
dmmjournal.bsky.social
Karimjee et al. identify suitable biomarkers for planned preclinical trials using a canine model of #DMD, which carries a spontaneous splice-site mutation resulting in the deletion of exon 50 within dystrophin transcripts, a central hotspot for human DMD mutations. doi.org/10.1242/dmm....
dmmjournal.bsky.social
Lixin Zhang & co create new in vivo ovarian tumour models. They provide genotypic and phenotypic analyses of 28 novel murine cell lines that express different antigens and recapitulate in vivo ovarian cancer with different histology and inflammatory profiles. doi.org/10.1242/dmm....

#Cancer
Murine ovarian cancer cell line generation protocols. (A) Generation of cell lines using healthy OSE cells isolated from mice with specific genetic traits. Following gentle trypsinization (1), primary OSE cells were cultured in vitro for prolonged periods of time (2), until immortalization was achieved, as detailed in the Materials and Methods. Cells that also underwent transformation were used as transplantable tumor models in syngeneic mice (3). Tumor tissue isolated at necropsy was used to generate tumor-derived cell lines. Cells were further used for in vitro genetic manipulations (4), such as via activation of silent Cre/loxP mutations or gene inactivation via CRISPR/Cas9. These newly derived ovarian cancer cell lines, with modified genetic traits, can also be used for in vivo tumor formation (5) and subsequent isolation of tumor-derived, ‘daughter’ cell lines.
dmmjournal.bsky.social
(5/5) Last, Stuti Bakshi & co develop a hypomorphic mouse model of carbamoyl phosphate synthetase 1 deficiency. doi.org/10.1242/dmm....
(A) The domain composition is noted and the amino acid location is identified by the numerals. The mutation is in the C-terminal moiety with bicarbonate phosphorylation, the first two steps in the production of carbamoyl phosphate by phosphorylation of bicarbonate by ATP to produce carboxyphosphate followed by attack by NH3 to yield carbamate  (B) Cartoon representation and enlargement (inset) of the ligand-bound human CPS1 protein (PDB ID, 5DOU; de Cima et al., 2015) transparency set to 50%. (Note that colors of the domain correspond with those used in A.) Asn674 is highlighted in red sticks. ADP in the bicarbonate phosphorylation domain is shown in red, orange, yellow and blue sticks. K+ and Mg2+ ions are shown in purple and green spheres, respectively. Catalytic residues around ADP are shown in light green lines. The yellow dashed line indicates the distance between the center of the Asn674 residue and the center of ADP in angstroms.
dmmjournal.bsky.social
(4/5) Stan van Wijk & co show that atrial fibrillation-associated lamin variants trigger distinct molecular pathways that drive arrhythmogenic effects in #Drosophila. doi.org/10.1242/dmm....
Protein homology of A-type lamins between species and locations of pathogenic variants. (A) Schematic of Drosophila LamC, with positional highlights corresponding to human LMNA pathogenic variants indicated in orange (ΔN), blue (p.R205W), green (p.N210K) and pink (p.R264Q). (B) Alignment of protein sequences of A-type lamins of various species. Numbers indicate only the position of the amino acid in Drosophila LamC protein. The conservation of amino acids with pathogenic missense variants suggests a pivotal role of the amino acid in the formation or function of the A-type lamin protein. The positions of the missense variants are highlighted in blue (p.R205W), green (p.N210K) and pink (p.R264Q).
dmmjournal.bsky.social
(3/5) Lixin Zhang et al. provide genotypic and phenotypic analyses of novel murine cell lines that express different antigens and recapitulate in vivo ovarian cancer with different histology and inflammatory profiles. doi.org/10.1242/dmm....
Murine ovarian cancer cell line generation protocols. (A) Generation of cell lines using healthy OSE cells isolated from mice with specific genetic traits. Following gentle trypsinization (1), primary OSE cells were cultured in vitro for prolonged periods of time (2), until immortalization was achieved, as detailed in the Materials and Methods. Cells that also underwent transformation were used as transplantable tumor models in syngeneic mice (3). Tumor tissue isolated at necropsy was used to generate tumor-derived cell lines. Cells were further used for in vitro genetic manipulations (4), such as via activation of silent Cre/loxP mutations or gene inactivation via CRISPR/Cas9. These newly derived ovarian cancer cell lines, with modified genetic traits, can also be used for in vivo tumor formation (5) and subsequent isolation of tumor-derived, ‘daughter’ cell lines. (B) Heatmap using normalized gene expression (R package DESeq2) across 11 transformed cell lines.
dmmjournal.bsky.social
(2/5) Next, Jun-yi Zhu & co identify endoplasmic reticulum stress as the converging point for synergy between APOL1-G1 and HIV-1 Nef in kidney cells. doi.org/10.1242/dmm....
Model of HIV-1 Nef acting in synergy with APOL1-G1 through ER stress. Graphic depiction of the proposed model in which Nef exacerbates APOL1-G1-mediated ER stress and causes cellular toxicity. APOL1-G1 causes reduced organelle acidification, which leads to accumulation of non-functional autophagosome and reduced autophagy. Reduced autophagy results in protein accumulation, leading to ER stress. Nef exacerbates the effects of APOL1-G1 on organelle acidification and independently promotes ER stress. Therefore, HIV-1 Nef and APOL1-G1 synergistically increase cellular toxicity through ER stress, which ultimately leads to cell death and tissue damage in the kidneys. (Green text indicates that data showed upregulation, red text indicates that data showed downregulation, yellow text indicates that data showed no change.)
dmmjournal.bsky.social
For #MostReadMonday, here is a thread🧵of the Top 5 most read articles in July 2025 —congrats to all! (1/5)

Narayanan & co characterise the structure & function of the lymphatic system in a mouse model of amyotrophic lateral sclerosis. doi.org/10.1242/dmm....
Detection of lymphatic vessels in skeletal muscle with antibodies against Lyve1 and Pdpn.
dmmjournal.bsky.social
DMM is proud to sponsor this meeting and publish important #Drosophila research, which you can find in our 'Drosophila as a Disease Model' subject collection.

journals.biologists.com/dmm/collecti...
biologists.bsky.social
Proud to support the 2025 European Drosophila Research Conference (EDRC) @edrc2025.bsky.social and publish important Drosophila research across our portfolio of journals.

edrc2025alicante.com

#EDRC2025
European Drosophila Research Conference logo
dmmjournal.bsky.social
We are still welcoming submissions for our exciting special issue on #InVitroModels of #HumanDisease.

We're looking forward to receiving your next paper by 3 November 2025.

Editors:
@vivianlilab.bsky.social, @ausmith.bsky.social & Joseph Wu

#OpenAccess #DiseaseModelling
#CallforPapers
Special Issue In Vitro Models of Human Disease to Inform Mechanism and Drug Discovery

Edited by Vivian Li, Austin Smith and Joseph Wu

Extended deadline: 3 November 2025
dmmjournal.bsky.social
Stuti Bakshi & co develop a hypomorphic mouse model of carbamoyl phosphate synthetase 1 deficiency, allowing for the assessment of the effects of mild hyperammonemia on development, with potential applications in new therapeutic advancements. 🐭
doi.org/10.1242/dmm....

#Hyperammonemia
The Asn674Ile CPS1 variant is in the bicarbonate phosphorylation region & converts a polar uncharged amino acid to one that is nonpolar and hydrophobic. (A) The domain composition is noted and the amino acid location is identified by the numerals. The mutation is in the C-terminal moiety with bicarbonate phosphorylation, the first 2 steps in the production of carbamoyl phosphate by phosphorylation of bicarbonate by ATP to produce carboxyphosphate followed by attack by NH3 to yield carbamate. (B) Cartoon representation and enlargement (inset) of the ligand-bound human CPS1 protein transparency set to 50%.  Asn674 is highlighted in red sticks. ADP in the bicarbonate phosphorylation domain is shown in red, orange, yellow and blue sticks. K+ and Mg2+ ions are shown in purple and green spheres, respectively. Catalytic residues around ADP are shown in light green lines. The yellow dashed line indicates the distance between the center of the Asn674 residue and the center of ADP in angstroms.
Reposted by DMM Journal
dmmjournal.bsky.social
Did you know that authors that submit to DMM can now include a translation of the manuscript's abstract in their chosen language?

journals.biologists.com/dmm/pages/news
dmmjournal.bsky.social
Also in this issue:
· Perspective on modelling metastasis
· Perspective on the importance of imperfect pre-clinical models in adolescent idiopathic scoliosis
· Editor’s choice on preventing cancer with liver-targeted siRNAs
· Research articles
· First person interviews

bit.ly/48rXYm0
dmmjournal.bsky.social
Issue 8 is done and dusted!

On the cover: A whole-mount mouse cochlea at postnatal day 16, labelled with anti-MSRB3 (a methionine sulfoxide reductase family member) antibody (green) and phalloidin (red).

bit.ly/48rXYm0
Maximum-intensity projection of a confocal z-stack of a whole-mount mouse cochlea at postnatal day 16, labelled with anti-MSRB3 antibody (green) and phalloidin (red). In wild-type control mice, MSRB3 is expressed in the soma of outer and inner hair cell bodies. Deletion of the Msrb3 gene resulted in complete loss of MSRB3 protein expression in Msrb3 knockout mice. See article by Nayak et al. (dmm052194). Cover image is licensed under a Creative Commons Attribution 4.0 International license.
Reposted by DMM Journal
ukdri.ac.uk
Dr Sevda Boyanova (UK DRI at UCL) explores two mutations associated with frontotemporal dementia and ALS in her latest study.

She delves into her research on behavioural analysis of dementia mouse models in a Q&A with @dmmjournal.bsky.social 👉 buff.ly/nyTmFrS
dmmjournal.bsky.social
For #NPAW2025, read our interview with Claudia Charles-Niño, a postdoc in Luis Martinez's lab at the University of Florida, USA, investigating medical mycology, pathogenesis & immunology, focussing on understanding the molecular interactions between pathogens and host.
doi.org/10.1242/dmm....
Claudia L. Charles-Niño (right) pictured with co-author Melissa Munzen (left)