Disease Models & Mechanisms

Article	Citations
A chance to turn HIV treatment up a Notch	119
Interleukin-1 regulates myeloid cell trafficking and cerebral blood flow following intracerebral haemorrhage	70
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	65
Optimized methods to image hepatic lipid droplets in zebrafish larvae	63
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	62
Drop the MYC: An expansion of triple-negative breast cancer driver genes	57
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	54
Let's talk about sex… obesity and melanoma	54
Building a framework for reproducibility: the case for standardized data reporting and metadata integration in zebrafish research	44
Molecular functions of ANKLE2 and its implications in human disease	44
Altered huntingtin−chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease	42
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	41
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	40
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	39
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	38
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	37
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	36
Cancer cachexia: lessons from Drosophila	35
First person – Christian Gonzalez	35
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	32
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	32
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	30
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	30
The Company of Biologists: celebrating 100 years	29
frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma	28

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	27
First person – Sheeza Mughal	26
The shifting culture of the scientific workforce – a change for women and girls in science	25
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	25
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	25
First person – Mayra Fernanda Martínez-López	24
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	23
First person – Nichole Link	23
A Drosophila model for mechanistic investigation of tau protein spread	23
The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis	23
Validity of Xiphophorus fish as models for human disease	22
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	21
Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	21
Identification of conserved residues essential for the ciliogenic functions of WDPCP	21
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	21
Immune function and dysfunction are determined by lymphoid tissue efficacy	21
An alveolus lung-on-a-chip model of Mycobacterium fortuitum lung infection	21
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis	20
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	20
First person – Michael Koch	20
New advances in CRISPR/Cas-mediated precise gene-editing techniques	20
DMM Outstanding Paper Prize 2021 winner: Daniel Bronder	20
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	20
First person – Rujuta Deshpande	19
First person – Rebeca Piñeiro-Sabarís	19
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	19
RAS pathway regulation in melanoma	19
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18	19
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	19
Reducing the aneuploid cell burden – cell competition and the ribosome connection	19
First person – Eli Matsell	19
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	19
Contribution of model organism phenotypes to the computational identification of human disease genes	19
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	18
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	18
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	18
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	18
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans	18
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	18
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	17
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	17
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	17
HuR modulation counteracts lipopolysaccharide response in murine macrophages	17
Stem cell modeling of nervous system tumors	17
First person – Haimeng Lyu	16
First person – Zongwang Zhang	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
Epigenetic downregulation of Socs2 contributes to mutant N-Ras-mediated hematopoietic dysregulation	15
Reducing the shock factor with new anti-epilepsy drugs	15
Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	15

Neurodevelopmental defects in a mouse model of O- GlcNAc transferase intellectual disability	15
High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	15
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases	15
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	15
First person – Saba Naghipour	15
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	15
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	15
Autophagy takes it all – autophagy inducers target immune aging	15
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior	15
Localized heterochrony integrates overgrowth potential of oncogenic clones	15
Defining the unknowns for cell therapies in Parkinson's disease	15
Brain organoid models of Huntington's disease shift the focus towards neurodevelopment	15
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	15
Promoting validation and cross-phylogenetic integration in model organism research	15
Preclinical evaluation of targeted therapies for central nervous system metastases	15
First person – Jeanne Rakotopare	15
Current approaches and advances in the imaging of stroke	14
First person – Clare Muir	14
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	14
First person – Lorena Maili	14
Modeling metastasis – leveraging novel tools to streamline discovery in advanced cancer	14
Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis	14
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways	14
Precise photopharmacological eradication of metastatic tumor cells	14
Supporting the evolution of infectious disease research	14
Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies	14
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	14
Exercise suppresses mouse systemic AApoAII amyloidosis through enhancement of the p38 MAPK signaling pathway	14
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes	14
A method for TAT-Cre recombinase-mediated floxed allele modification in ex vivo tissue slices	14
Genetic variance in human disease – modelling the future of genomic medicine	13
First person – Claire Montgomery and Lili Salinas	13
First person – Lídia Faria	13
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	13
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	13
First person – Rebeka Popovic and Yizhou Yu	13
Transcriptional regulation of autophagy in skeletal muscle stem cells	13
Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension	13
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	13
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	13
Correction: Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma	13
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	13
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	13
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult	13
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	12
First person – Pavitra Prakash	12
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	12
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	12
First person – Ariany Oliveira-Santos	12
First person – Kathrin Pfeifer	12
Improving bench-to-bedside translation for acute graft-versus-host disease models	12
First person – Toni Lemmetyinen	12
eNOS in congenital to adult cardiovascular disease	12
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	12
First person – Jiří Funda	12
Nonlinear progression during the occult transition establishes cancer lethality	11
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	11
Building a healthy mouse model ecosystem to interrogate cancer biology	11
The Mouse Models of Human Cancer database (MMHCdb)	11
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	11
First person – Sevda Boyanova	11
MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity	11
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	11
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	11
park+/+ and park−/− Drosophila have sexually dimorphic brain redox chemistry	11
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	11
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	11
First person – Qingran Huo	11
Emerging toxicological awareness of per- and polyfluoroalkyl substances: the rising concern over ‘forever chemicals’	11
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	11
A BALB/c mouse model of Mycobacterium abscessus lung infection based on once-weekly cyclophosphamide administration	11
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	11
Mouse models of fragile X-related disorders	11
Mapping lung cancer ventilation dynamics: A pilot mouse study using functional imaging and lung mechanics	11
First person – Kaitly Woodard	10
First person – Casey Griffin	10
The loop-tail mouse model displays open and closed caudal neural tube defects	10
In vivo quantitative high-throughput screening for drug discovery and comparative toxicology	10
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	10
Contusions that reshape bone produce tidy conclusions	10

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	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
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	10
Adult zebrafish as advanced models of human disease	10
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	10
First person – Mohamadamin Forouzandehmehr	10
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	10
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	10
Induction of pancreatic neoplasia in the KRAS / TP53 Oncopig	10
First person – Vanessa Gomez	9
First person – Sarah Alghamdi	9
Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain	9
First person – Nefeli Skoufou-Papoutsaki	9
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	9
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	9
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	9
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	9
First person – Sabrina Alam	9
Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells	9
Uncovering an antifibrotic Prrx1-lineage mesenchymal cell subpopulation in fibrotic lungs	9
Redefining tuberculosis: an interview with Lalita Ramakrishnan	9
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	9
An education in tolerance: the 2025 Nobel Prize in Physiology or Medicine	9
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome	9
Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice	9
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	9
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	9
Eyeing up the role of HTRA1 in age-related macular degeneration	9
Genetically diverse mouse platform to xenograft cancer cells	9
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	9
Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death	9
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	9
First person – Chang Sun	9
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	9
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	9
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
First person – Jimena Monzón-Sandoval	8
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	8
First person – Anaïs Kervadec and James Kezos	8
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	8
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk	8
Treatment of age-related visual impairment with a peptide acting on mitochondria	8
First person – Ilaria Gregorio	8
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	8
Disease Models & Mechanisms helps move heart failure to heart success	8
The behavioural consequences of dystrophinopathy	8
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	8
The benefits, limitations and opportunities of preclinical models for neonatal drug development	8
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	8
Innovating spinal muscular atrophy models in the therapeutic era	8
Synergistic modelling of human disease	8
Impactful disease research: a DMM year in review	8
Embracing complexity in Drosophila cancer models	8
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	8
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	8
Smad4 restricts injury-provoked biliary proliferation and carcinogenesis	8
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	8
Lamin variants cause cardiac arrhythmogenicity in Drosophila	8