Disease Models & Mechanisms

Article	Citations
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	106
A chance to turn HIV treatment up a Notch	65
Altered huntingtin−chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease	59
Metabolism navigates neural cell fate in development, aging and neurodegeneration	55
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	55
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	52
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	48
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	47
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	45
Molecular functions of ANKLE2 and its implications in human disease	44
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	43
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	39
Drop the MYC: An expansion of triple-negative breast cancer driver genes	39
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	36
Let's talk about sex… obesity and melanoma	35
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	34
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	33
Optimized methods to image hepatic lipid droplets in zebrafish larvae	33
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	33
Cancer cachexia: lessons from Drosophila	32
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	31
Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	31
The Company of Biologists: celebrating 100 years	30
A Drosophila model for mechanistic investigation of tau protein spread	29
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	29

frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma	28
First person – Sheeza Mughal	27
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	27
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	26
The shifting culture of the scientific workforce – a change for women and girls in science	25
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	25
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	25
First person – Mayra Fernanda Martínez-López	24
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	24
First person – Nichole Link	24
Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish	23
Immune function and dysfunction are determined by lymphoid tissue efficacy	23
Elevated murine HB-EGF confers sensitivity to diphtheria toxin in EGFR-mutant lung adenocarcinoma	22
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	21
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	21
Validity of Xiphophorus fish as models for human disease	20
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis	20
An alveolus lung-on-a-chip model of Mycobacterium fortuitum lung infection	20
HuR modulation counteracts lipopolysaccharide response in murine macrophages	20
New advances in CRISPR/Cas-mediated precise gene-editing techniques	20
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	19
First person – Eli Matsell	19
First person – Rujuta Deshpande	19
First person – Michael Koch	19
RAS pathway regulation in melanoma	19
DMM Outstanding Paper Prize 2021 winner: Daniel Bronder	19
Contribution of model organism phenotypes to the computational identification of human disease genes	18
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	18
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	18
Reducing the aneuploid cell burden – cell competition and the ribosome connection	18
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	18
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18	18
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	17
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	17
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	17
First person – Zongwang Zhang	17
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans	17
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	17
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	17
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	17
First person – Rebeca Piñeiro-Sabarís	17
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	17
Localized heterochrony integrates overgrowth potential of oncogenic clones	17
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	17
Stem cell modeling of nervous system tumors	16
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	16
First person – Haimeng Lyu	16
High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	15
Defining the unknowns for cell therapies in Parkinson's disease	15
First person – Saba Naghipour	15

Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	15
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	15
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	15
Epigenetic downregulation of Socs2 contributes to mutant N-Ras-mediated hematopoietic dysregulation	15
A mouse model of brittle cornea syndrome caused by mutation in Zfp469	15
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability	15
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	15
Reducing the shock factor with new anti-epilepsy drugs	15
Promoting validation and cross-phylogenetic integration in model organism research	15
Genetically altered animal models forATP1A3-related disorders	14
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases	14
A method for TAT-Cre recombinase-mediated floxed allele modification in ex vivo tissue slices	14
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes	14
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	14
Autophagy takes it all – autophagy inducers target immune aging	14
Preclinical evaluation of targeted therapies for central nervous system metastases	14
First person – Matt Johansen	14
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy	14
Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies	14
First person – Jeanne Rakotopare	14
First person – Lorena Maili	13
Current approaches and advances in the imaging of stroke	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
First person – Rebeka Popovic and Yizhou Yu	13
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	13
Precise photopharmacological eradication of metastatic tumor cells	13
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways	13
First person – Lídia Faria	13
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	13
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult zebrafish	13
Genetic variance in human disease – modelling the future of genomic medicine	13
Supporting the evolution of infectious disease research	13
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	13
What lies beyond 100 years of insulin	13
Transcriptional regulation of autophagy in skeletal muscle stem cells	13
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	13
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	12
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	12
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	12
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	12
First person – Ariany Oliveira-Santos	12
First person – Jun-yi Zhu and Xiaohu Huang	12
Improving bench-to-bedside translation for acute graft-versus-host disease models	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
First person – Yuka Kobayashi	12
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	12
First person – Bernhard N. Bohnert	12
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	12
First person – Claire Montgomery and Lili Salinas	12
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	12
Exercise suppresses mouse systemic AApoAII amyloidosis through enhancement of the p38 MAPK signaling pathway	12
eNOS in congenital to adult cardiovascular disease	11
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	11
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	11
First person – Toni Lemmetyinen	11
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	11
Nonlinear progression during the occult transition establishes cancer lethality	11
A BALB/c mouse model of Mycobacterium abscessus lung infection based on once-weekly cyclophosphamide administration	11
Building a healthy mouse model ecosystem to interrogate cancer biology	11
First person – Li Wang	11
First person – Jiří Funda	11
The Mouse Models of Human Cancer database (MMHCdb)	11
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	10
Adult zebrafish as advanced models of human disease	10
First person – Mohamadamin Forouzandehmehr	10
First person – Casey Griffin	10
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	10
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	10
First person – Kathrin Pfeifer	10
Mouse models of fragile X-related disorders	10
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	10
How metals fuel fungal virulence, yet promote anti-fungal immunity	10
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	10
First person – Kaitly Woodard	10
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	10
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	10
First person – Pavitra Prakash	10
In vivoquantitative high-throughput screening for drug discovery and comparative toxicology	10
The loop-tail mouse model displays open and closed caudal neural tube defects	10

Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	10
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	10
Induction of pancreatic neoplasia in the KRAS/TP53 Oncopig	10
First person – Qingran Huo	10
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	10
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	10
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	9
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	9
Contusions that reshape bone produce tidy conclusions	9
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	9
Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells	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
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	9
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	9
Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death	9
Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain	9
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	9
First person – Nefeli Skoufou-Papoutsaki	9
First person – Sabrina Alam	9
First person – Sarah Alghamdi	9
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	9
Redefining tuberculosis: an interview with Lalita Ramakrishnan	9
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	9
First person – Elin Schoultz and Ellen Johansson	9
First person – Chang Sun	9
First person – Vanessa Gomez	9
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	9
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	8
Embracing complexity in Drosophila cancer models	8
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	8
Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	8
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	8
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	8
Synergistic modelling of human disease	8
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	8
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	8
Lamin variants cause cardiac arrhythmogenicity in Drosophila	8
Genetically diverse mouse platform to xenograft cancer cells	8
A zebrafish model of diabetic nephropathy shows hyperglycemia, proteinuria and activation of the PI3K/Akt pathway	8
Impactful disease research: a DMM year in review	8
Innovating spinal muscular atrophy models in the therapeutic era	8
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	8
Expanding the neuroimmune research toolkit with in vivo brain organoid technologies	8
First person – Ilaria Gregorio	8
Disease Models & Mechanisms helps move heart failure to heart success	8
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	8
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	8
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	8
Treatment of age-related visual impairment with a peptide acting on mitochondria	8
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	8
First person – Jimena Monzón-Sandoval	8
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	8
First person – Ionel Sandovici	7
Maximizing biomedical research impacts through bioethical considerations	7
Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation	7
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk	7
First person – Amanda Miles	7
Dysregulated mitochondrial metabolism upon cigarette smoke exposure in various human bronchial epithelial cell models	7
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease	7
Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis	7
The Michael J. Fox Foundation's quest for a cure for Parkinson's disease: an interview with Nicole Polinski	7
Transcriptomic characterization of postnatal muscle maturation	7
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	7
Defining RASopathy	7
Lateral thinking in syndromic congenital cardiovascular disease	7
The behavioural consequences of dystrophinopathy	7
Advances in diet-induced rodent models of metabolically acquired peripheral neuropathy	7
A clinically relevant model of acute respiratory distress syndrome in human-size swine	7
Deep phenotyping for precision medicine in Parkinson's disease	7
Insulin at 100 years – is rebalancing its action key to fighting obesity-related disease?	7
First person – Mark Hanson	7
First person – Xuming Zhu	7
Variable body and tissue weight reporting in preclinical cachexia literature may alter study outcomes and interpretation	7
First person – Jun-yi Zhu	7
Correction: Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	7
Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments	7
The benefits, limitations and opportunities of preclinical models for neonatal drug development	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
A new network for the synergistic translation of mouse research	7
Sex hormone receptors, calcium-binding protein and Yap1 signaling regulate sex-dependent liver cell proliferation following partial hepatectomy	7
Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts	7
First person – Pinaki Mondal and Neesha Patel	6
First person – Eleanor McKay	6
A new vessel for understanding polycystic kidney disease	6
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome	6
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency	6
Translating multiscale research in rare disease	6
Understanding and modeling nerve–cancer interactions	6
Genetic background determines severity of Loxl1-mediated systemic and ocular elastosis in mice	6
First person – Diego Baronio	6
Lung Cancer Europe challenges stigma: an interview with Anne-Marie Baird	6
Chemoprevention for hepatocellular carcinoma using GalNAc-siRNAs	6