Disease Models & Mechanisms

Article	Citations
A chance to turn HIV treatment up a Notch	95
Drop the MYC: An expansion of triple-negative breast cancer driver genes	65
Let's talk about sex… obesity and melanoma	55
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	46
Interleukin-1 regulates myeloid cell trafficking and cerebral blood flow following intracerebral haemorrhage	41
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	40
First person – Christian Gonzalez	40
Altered huntingtin−chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease	35
Cortical bone porosity is spatially heterogeneous and VEGF dependent in male bone	34
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	33
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	31
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	30
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	30
Molecular functions of ANKLE2 and its implications in human disease	29
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	27
Optimized methods to image hepatic lipid droplets in zebrafish larvae	27
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	27
Building a framework for reproducibility: the case for standardized data reporting and metadata integration in zebrafish research	26
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	26
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	26
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	26
First person – Tabea Soelter and Emma Jones	25
First person – Mayra Fernanda Martínez-López	24
First person – Sheeza Mughal	24
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	23

The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis	23
First person – Nichole Link	23
Identification of conserved residues essential for the ciliogenic functions of WDPCP	22
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	21
An alveolus lung-on-a-chip model of Mycobacterium fortuitum lung infection	21
First person – Miguel Ramirez-Moreno	21
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	21
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	21
The Company of Biologists: celebrating 100 years	21
A Drosophila model for mechanistic investigation of tau protein spread	20
Validity of Xiphophorus fish as models for human disease	20
New advances in CRISPR/Cas-mediated precise gene-editing techniques	20
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	20
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	20
First person – Michael Koch	20
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	20
The shifting culture of the scientific workforce – a change for women and girls in science	20
A modeller's guide for biomedical discovery	20
frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma	20
First person – Eli Matsell	19
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis	19
First person – Rebeca Piñeiro-Sabarís	19
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	19
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	19
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	18
Reducing the aneuploid cell burden – cell competition and the ribosome connection	18
HuR modulation counteracts lipopolysaccharide response in murine macrophages	18
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	18
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	17
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	17
First person – Haimeng Lyu	17
Knockin expression of human ADAMTS5 impairs cardiovascular development and aggravates cerebral cavernous malformations in mice	17
CSF1R-related leukoencephalopathy: experimental models and potential for treatment	17
Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	17
Defining the unknowns for cell therapies in Parkinson's disease	17
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18	17
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	17
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	17
First person – Zongwang Zhang	17
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	17
First person – Saba Naghipour	16
Promoting validation and cross-phylogenetic integration in model organism research	16
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	16
Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes	16
Stem cell modeling of nervous system tumors	16
Neurodevelopmental defects in a mouse model of O- GlcNAc transferase intellectual disability	16
Reducing the shock factor with new anti-epilepsy drugs	16
The N-terminal region of malaria vaccine candidate asparagine-rich merozoite antigen is immunodominant and targeted by polyreactive antibodies	16
DMM Outstanding Paper Prize 2024 winners: Destynie Medeiros, Karen Ayala Baylon, Hailey Egido-Betancourt, Christopher Chapleau and Wei Li, and Jasmin Scheurer and Birgit Sauer	16
A zebrafish luminescent biosensor for kidney tubulopathy, metal toxicity and drug screening	15

High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	15
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	15
Localized heterochrony integrates overgrowth potential of oncogenic clones	15
Brain organoid models of Huntington's disease shift the focus towards neurodevelopment	15
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	15
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	15
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	15
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	15
First person – Jeanne Rakotopare	15
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior	14
First person – Lorena Maili	14
Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies	14
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes	14
Precise photopharmacological eradication of metastatic tumor cells	14
A method for TAT-Cre recombinase-mediated floxed allele modification in ex vivo tissue slices	14
Supporting the evolution of infectious disease research	14
Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis	14
Preclinical evaluation of targeted therapies for central nervous system metastases	13
First person – Clare Muir	13
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	13
Loss of endogenous tau suppresses APOE4-induced patterned behavioral decline and axon dysmorphia in a model of Alzheimer's disease	13
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases	13
First person – Arístides López-Márquez	13
Modeling metastasis – leveraging novel tools to streamline discovery in advanced cancer	13
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult	13
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	13
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	12
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	12
First person – Rebeka Popovic and Yizhou Yu	12
First person – Lídia Faria	12
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	12
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	12
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	12
Correction: Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma	12
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	12
Transcriptional regulation of autophagy in skeletal muscle stem cells	12
MicroRNA-21 promotes dysregulated lipid metabolism and hepatocellular carcinoma	12
Loss of Cathepsin Z enhances pro-inflammatory macrophage responses and promotes tissue regeneration	12
First person – Claire Montgomery and Lili Salinas	12
First person – Muhammad Dimas Reza Rahmana	12
eNOS in congenital to adult cardiovascular disease	11
The Mouse Models of Human Cancer database (MMHCdb)	11
First person – Kathrin Pfeifer	11
Alex's Lemonade Stand Foundation squeezes in hope for childhood cancer: an interview with Liz and Jay Scott	11
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	11
First person – Toni Lemmetyinen	11
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	11
park+/+ and park−/− Drosophila have sexually dimorphic brain redox chemistry	11
Building a healthy mouse model ecosystem to interrogate cancer biology	11
Mouse models of fragile X-related disorders	11
Emerging toxicological awareness of per- and polyfluoroalkyl substances: the rising concern over ‘forever chemicals’	11
First person – Ariany Oliveira-Santos	11
Improving bench-to-bedside translation for acute graft-versus-host disease models	11
First person – Ronan Smith and Nicole Reyne	11
Chiari II brain malformation is secondary to open spina bifida	11
Nonlinear progression during the occult transition establishes cancer lethality	11
First person – Nayeli Reyes-Nava	11
First person – Casey Griffin	10
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	10
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	10
First person – Qingran Huo	10
Charcot-Marie-Tooth mutations of HSPB1 progressively alter neuromuscular signalling in Caenorhabditis elegans	10
Mapping lung cancer ventilation dynamics using functional imaging and lung mechanics	10
First person – Mohamadamin Forouzandehmehr	10
Contusions that reshape bone produce tidy conclusions	10
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	10
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	10
A BALB/c mouse model of Mycobacterium abscessus lung infection based on once-weekly cyclophosphamide administration	10
The loop-tail mouse model displays open and closed caudal neural tube defects	10
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	10
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	10
How metals fuel fungal virulence, yet promote anti-fungal immunity	10
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	10
First person – Sevda Boyanova	10
Adult zebrafish as advanced models of human disease	10
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	9
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	9
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	9
First person – Vanessa Gomez	9
First person – Chang Sun	9

Engineering probiotic yeast micro-factories for gastrointestinal biologic delivery	9
Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice	9
Clarifying Frizzled 2 function in development through genetically validated mouse models	9
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	9
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	9
Induction of pancreatic neoplasia in the KRAS / TP53 Oncopig	9
First person – Nefeli Skoufou-Papoutsaki	9
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome	9
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	9
Eyeing up the role of HTRA1 in age-related macular degeneration	9
MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity	9
In vivo quantitative high-throughput screening for drug discovery and comparative toxicology	9
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	9
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	9
Redefining tuberculosis: an interview with Lalita Ramakrishnan	9
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	9
Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain	9
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	9
C-C motif receptor 2 is a core profibrotic factor in uremic cardiomyopathy	9
Cell death analysis of inducible, titratable neurodegenerative disease models in zebrafish and human stem cell-derived retinal organoids	9
Gut-derived Unpaired-3 cytokine signaling promotes systemic hypoxia tolerance in Drosophila	8
The behavioural consequences of dystrophinopathy	8
Lamin variants cause cardiac arrhythmogenicity in Drosophila	8
Innovating spinal muscular atrophy models in the therapeutic era	8
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	8
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	8
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	8
Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells	8
Impactful disease research: a DMM year in review	8
Smad4 restricts injury-provoked biliary proliferation and carcinogenesis	8
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk	8
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	8
Synergistic modelling of human disease	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	8
First person – Jimena Monzón-Sandoval	8
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	8
Genetically diverse mouse platform to xenograft cancer cells	8
Evidence that xylazine disrupts skin homeostasis by acting on epithelial cells through the kappa opioid receptor	8
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	8
Lateral thinking in syndromic congenital cardiovascular disease	8
Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation	8
Expanding the neuroimmune research toolkit with in vivo brain organoid technologies	8
A zebrafish model of diabetic nephropathy shows hyperglycemia, proteinuria and activation of the PI3K/Akt pathway	8
Deciphering the link between spina bifida and the Chiari II malformation	8
Uncovering an antifibrotic Prrx1-lineage mesenchymal cell subpopulation in fibrotic lungs	8
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	8
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	8
An education in tolerance: the 2025 Nobel Prize in Physiology or Medicine	8
First person – Ana Filipa Castro	8
First person – Ilaria Gregorio	8
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	8
Correction: Temporal and spatially controlled APP transgene expression using Cre-dependent alleles	7
First person – Robert Van Sciver	7
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis	7
Multi-omics analysis of diabetic pig lungs reveals molecular derangements underlying pulmonary complications of diabetes mellitus	7
First person – Anaïs Kervadec and James Kezos	7
First person – Mark Hanson	7
The viral arms race: an interview with Harmit Malik	7
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease	7
First person – Tara Gleeson	7
Variable body and tissue weight reporting in preclinical cachexia literature may alter study outcomes and interpretation	7
Maximizing biomedical research impacts through bioethical considerations	7
First person – Jun-yi Zhu	7
First person – Ionel Sandovici	7
First person – Xuming Zhu	7
Sex hormone receptors, calcium-binding protein and Yap1 signaling regulate sex-dependent liver cell proliferation following partial hepatectomy	7
Transcriptomic characterization of postnatal muscle maturation	7
Uncovering similarities in the process of lower jaw and limb regeneration within axolotls	7
To the fin and back again: expanding our understanding of congenital limb malformation	7
First person – Chad VanSant-Webb and Jessye Castro	7
Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy	7
A clinically relevant model of acute respiratory distress syndrome in human-size swine	7
Correction: Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	7
The Michael J. Fox Foundation's quest for a cure for Parkinson's disease: an interview with Nicole Polinski	7
A new network for the synergistic translation of mouse research	7
Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments	7