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	68
Altered huntingtin−chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease	59
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	56
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	56
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	51
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	48
Molecular functions of ANKLE2 and its implications in human disease	46
Drop the MYC: An expansion of triple-negative breast cancer driver genes	44
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	43
Let's talk about sex… obesity and melanoma	40
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	39
Cancer cachexia: lessons from Drosophila	37
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	36
Interleukin-1 regulates myeloid cell trafficking and cerebral blood flow following intracerebral haemorrhage	34
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	33
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	32
Optimized methods to image hepatic lipid droplets in zebrafish larvae	32
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	31
Immune function and dysfunction are determined by lymphoid tissue efficacy	30
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	30
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	29
An alveolus lung-on-a-chip model of Mycobacterium fortuitum lung infection	29
Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	28
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	28

A Drosophila model for mechanistic investigation of tau protein spread	26
The Company of Biologists: celebrating 100 years	26
frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma	25
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	25
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	25
First person – Sheeza Mughal	25
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	23
The shifting culture of the scientific workforce – a change for women and girls in science	23
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	23
First person – Nichole Link	22
First person – Mayra Fernanda Martínez-López	22
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	21
Elevated murine HB-EGF confers sensitivity to diphtheria toxin in EGFR-mutant lung adenocarcinoma	21
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	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
Validity of Xiphophorus fish as models for human disease	20
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	19
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	19
Reducing the aneuploid cell burden – cell competition and the ribosome connection	19
First person – Rebeca Piñeiro-Sabarís	19
The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis	19
First person – Eli Matsell	18
DMM Outstanding Paper Prize 2021 winner: Daniel Bronder	18
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans	18
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis	18
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	18
First person – Rujuta Deshpande	18
First person – Michael Koch	18
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	18
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18	17
HuR modulation counteracts lipopolysaccharide response in murine macrophages	17
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	17
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	17
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	17
RAS pathway regulation in melanoma	17
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	17
Contribution of model organism phenotypes to the computational identification of human disease genes	17
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	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	16
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	16
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	16
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	16
High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	16
Promoting validation and cross-phylogenetic integration in model organism research	16
Localized heterochrony integrates overgrowth potential of oncogenic clones	16
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	16
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	16
Defining the unknowns for cell therapies in Parkinson's disease	16
Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	15

First person – Saba Naghipour	15
First person – Haimeng Lyu	15
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	15
A mouse model of brittle cornea syndrome caused by mutation in Zfp469	15
Reducing the shock factor with new anti-epilepsy drugs	15
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy	15
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	15
First person – Zongwang Zhang	15
Epigenetic downregulation of Socs2 contributes to mutant N-Ras-mediated hematopoietic dysregulation	14
Preclinical evaluation of targeted therapies for central nervous system metastases	14
Autophagy takes it all – autophagy inducers target immune aging	14
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability	14
First person – Jeanne Rakotopare	14
Generation of three human induced pluripotent stem cell lines from FGFR2-linked syndromic craniosynostosis patients	14
First person – Lorena Maili	14
Stem cell modeling of nervous system tumors	14
Genetically altered animal models forATP1A3-related disorders	14
First person – Matt Johansen	14
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases	14
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes	14
Supporting the evolution of infectious disease research	13
Novel patient-specific BBSOAS mouse models reveal genotype-phenotype correlations in brain structure and behavior	13
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	13
What lies beyond 100 years of insulin	13
First person – Yuka Kobayashi	13
Precise photopharmacological eradication of metastatic tumor cells	13
Current approaches and advances in the imaging of stroke	13
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	13
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	13
First person – Rebeka Popovic and Yizhou Yu	13
A method for TAT-Cre recombinase-mediated floxed allele modification in ex vivo tissue slices	13
Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies	13
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult zebrafish	13
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	13
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	12
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	12
First person – Claire Montgomery and Lili Salinas	12
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	12
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	12
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	12
Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension	12
Transcriptional regulation of autophagy in skeletal muscle stem cells	12
First person – Clare Muir	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
Genetic variance in human disease – modelling the future of genomic medicine	12
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	12
First person – Lídia Faria	12
Exercise suppresses mouse systemic AApoAII amyloidosis through enhancement of the p38 MAPK signaling pathway	12
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways	12
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	11
First person – Toni Lemmetyinen	11
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	11
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	11
First person – Pavitra Prakash	11
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	11
A BALB/c mouse model of Mycobacterium abscessus lung infection based on once-weekly cyclophosphamide administration	11
First person – Bernhard N. Bohnert	11
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	11
First person – Li Wang	11
Nonlinear progression during the occult transition establishes cancer lethality	11
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	11
eNOS in congenital to adult cardiovascular disease	11
The Mouse Models of Human Cancer database (MMHCdb)	11
In vivoquantitative high-throughput screening for drug discovery and comparative toxicology	10
Mouse models of fragile X-related disorders	10
First person – Jiří Funda	10
First person – Kathrin Pfeifer	10
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	10
Adult zebrafish as advanced models of human disease	10
How metals fuel fungal virulence, yet promote anti-fungal immunity	10
Induction of pancreatic neoplasia in the KRAS/TP53 Oncopig	10
park+/+ and park−/− Drosophila have sexually dimorphic brain redox chemistry	10
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	10
First person – Ariany Oliveira-Santos	10
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	10
The loop-tail mouse model displays open and closed caudal neural tube defects	10
First person – Kaitly Woodard	10
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	10
Building a healthy mouse model ecosystem to interrogate cancer biology	10
Improving bench-to-bedside translation for acute graft-versus-host disease models	10

First person – Jun-yi Zhu and Xiaohu Huang	10
First person – Qingran Huo	10
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	10
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	10
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	9
Contusions that reshape bone produce tidy conclusions	9
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	9
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	9
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	9
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	9
First person – Casey Griffin	9
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	9
MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity	9
Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain	9
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	9
First person – Mohamadamin Forouzandehmehr	9
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	9
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	9
First person – Sevda Boyanova	9
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	9
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	9
First person – Nefeli Skoufou-Papoutsaki	8
First person – Sarah Alghamdi	8
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	8
Disease Models & Mechanisms helps move heart failure to heart success	8
Synergistic modelling of human disease	8
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	8
First person – Chang Sun	8
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	8
Redefining tuberculosis: an interview with Lalita Ramakrishnan	8
First person – Sabrina Alam	8
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome	8
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	8
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	8
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	8
Embracing complexity in Drosophila cancer models	8
Expanding the neuroimmune research toolkit with in vivo brain organoid technologies	8
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	8
First person – Vanessa Gomez	8
Genetically diverse mouse platform to xenograft cancer cells	8
Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells	8
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	8
Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney	8
Impactful disease research: a DMM year in review	8
Treatment of age-related visual impairment with a peptide acting on mitochondria	8
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	8
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	8
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	8
A zebrafish model of diabetic nephropathy shows hyperglycemia, proteinuria and activation of the PI3K/Akt pathway	8
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	8
Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death	8
Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice	8
Lamin variants cause cardiac arrhythmogenicity in Drosophila	7
Uncovering an antifibrotic Prrx1-lineage mesenchymal cell subpopulation in fibrotic lungs	7
Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis	7
Multi-omics analysis of diabetic pig lungs reveals molecular derangements underlying pulmonary complications of diabetes mellitus	7
First person – Mark Hanson	7
Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation	7
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis	7
Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy	7
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	7
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	7
First person – Ilaria Gregorio	7
Maximizing biomedical research impacts through bioethical considerations	7
First person – Jun-yi Zhu	7
First person – Xuming Zhu	7
Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts	7
First person – Ionel Sandovici	7
A new network for the synergistic translation of mouse research	7
First person – Amanda Miles	7
First person – Jimena Monzón-Sandoval	7
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	7
The behavioural consequences of dystrophinopathy	7
Correction: Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	7
Smad4 restricts injury-provoked biliary proliferation and carcinogenesis	7
Advances in diet-induced rodent models of metabolically acquired peripheral neuropathy	7
The Michael J. Fox Foundation's quest for a cure for Parkinson's disease: an interview with Nicole Polinski	7
Sex hormone receptors, calcium-binding protein and Yap1 signaling regulate sex-dependent liver cell proliferation following partial hepatectomy	7
First person – Katherine Robinson	7
Lateral thinking in syndromic congenital cardiovascular disease	7
Transcriptomic characterization of postnatal muscle maturation	7
Innovating spinal muscular atrophy models in the therapeutic era	7
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk	7
Chemoprevention of hepatocellular carcinoma using N-acetylgalactosamine-conjugated siRNAs	6
Uncovering similarities in the process of lower jaw and limb regeneration within axolotls	6
Designer pigs for xenogeneic heart transplantation and beyond	6
Long-term, age-associated activity quantification in the DE50-MD dog model of Duchenne muscular dystrophy	6
Conditional in vivo deletion of LYN kinase has little effect on a BRCA1 loss-of-function-associated mammary tumour model	6
First person – Robert Van Sciver	6
Correction: Temporal and spatially controlled APP transgene expression using Cre-dependent alleles	6
A new vessel for understanding polycystic kidney disease	6
Clonal architecture and evolutionary history of Waldenström's macroglobulinemia at the single-cell level	6
To the fin and back again: expanding our understanding of congenital limb malformation	6
Investigating local and systemic intestinal signalling in health and disease with Drosophila	6