Disease Models & Mechanisms

Article	Citations
A chance to turn HIV treatment up a Notch	113
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	69
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	64
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	59
Interleukin-1 regulates myeloid cell trafficking and cerebral blood flow following intracerebral haemorrhage	59
Optimized methods to image hepatic lipid droplets in zebrafish larvae	55
Altered huntingtin−chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease	51
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	51
Drop the MYC: An expansion of triple-negative breast cancer driver genes	49
Let's talk about sex… obesity and melanoma	44
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	43
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	42
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	39
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	39
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	38
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	36
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	35
Molecular functions of ANKLE2 and its implications in human disease	34
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	34
Cancer cachexia: lessons from Drosophila	32
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	31
The Company of Biologists: celebrating 100 years	30
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	29
frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma	29
Validity of Xiphophorus fish as models for human disease	29

Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	28
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	28
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	27
First person – Sheeza Mughal	26
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	24
First person – Nichole Link	23
The shifting culture of the scientific workforce – a change for women and girls in science	23
First person – Mayra Fernanda Martínez-López	23
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	23
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	23
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	23
Elevated murine HB-EGF confers sensitivity to diphtheria toxin in EGFR-mutant lung adenocarcinoma	22
A Drosophila model for mechanistic investigation of tau protein spread	21
Immune function and dysfunction are determined by lymphoid tissue efficacy	21
The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis	21
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
New advances in CRISPR/Cas-mediated precise gene-editing techniques	20
DMM Outstanding Paper Prize 2021 winner: Daniel Bronder	20
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	20
First person – Rujuta Deshpande	19
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	19
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans	19
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	19
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18	19
Reducing the aneuploid cell burden – cell competition and the ribosome connection	19
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	19
First person – Rebeca Piñeiro-Sabarís	19
First person – Eli Matsell	19
First person – Michael Koch	19
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	19
Contribution of model organism phenotypes to the computational identification of human disease genes	19
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	18
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	18
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	18
RAS pathway regulation in melanoma	18
HuR modulation counteracts lipopolysaccharide response in murine macrophages	17
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	17
Stem cell modeling of nervous system tumors	17
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	17
Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	17
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	17
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	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
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	16
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	16
First person – Zongwang Zhang	16
Localized heterochrony integrates overgrowth potential of oncogenic clones	16
First person – Haimeng Lyu	16
Promoting validation and cross-phylogenetic integration in model organism research	15

Defining the unknowns for cell therapies in Parkinson's disease	15
First person – Saba Naghipour	15
Brain organoid models of Huntington's disease shift the focus towards neurodevelopment	15
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	15
Reducing the shock factor with new anti-epilepsy drugs	15
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability	15
Autophagy takes it all – autophagy inducers target immune aging	15
Epigenetic downregulation of Socs2 contributes to mutant N-Ras-mediated hematopoietic dysregulation	15
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	15
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	15
High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	15
Current approaches and advances in the imaging of stroke	14
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes	14
Supporting the evolution of infectious disease research	14
Modeling metastasis – leveraging novel tools to streamline discovery in advanced cancer	14
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior	14
Precise photopharmacological eradication of metastatic tumor cells	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
Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis	14
First person – Jeanne Rakotopare	14
First person – Lorena Maili	14
Preclinical evaluation of targeted therapies for central nervous system metastases	14
Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies	14
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	13
What lies beyond 100 years of insulin	13
Genetic variance in human disease – modelling the future of genomic medicine	13
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	13
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	13
First person – Lídia Faria	13
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways	13
First person – Clare Muir	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
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	13
First person – Yuka Kobayashi	13
Transcriptional regulation of autophagy in skeletal muscle stem cells	13
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	13
First person – Rebeka Popovic and Yizhou Yu	13
First person – Claire Montgomery and Lili Salinas	13
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	13
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	13
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult zebrafish	13
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	13
Exercise suppresses mouse systemic AApoAII amyloidosis through enhancement of the p38 MAPK signaling pathway	12
First person – Toni Lemmetyinen	12
First person – Ariany Oliveira-Santos	12
First person – Pavitra Prakash	12
Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension	12
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	12
eNOS in congenital to adult cardiovascular disease	12
First person – Li Wang	12
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	12
Nonlinear progression during the occult transition establishes cancer lethality	12
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	12
First person – Jiří Funda	11
First person – Jun-yi Zhu and Xiaohu Huang	11
The Mouse Models of Human Cancer database (MMHCdb)	11
park+/+ and park−/− Drosophila have sexually dimorphic brain redox chemistry	11
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	11
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	11
Improving bench-to-bedside translation for acute graft-versus-host disease models	11
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	11
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	11
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	11
First person – Kathrin Pfeifer	11
Mouse models of fragile X-related disorders	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
MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity	10
In vivoquantitative high-throughput screening for drug discovery and comparative toxicology	10
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	10
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	10
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	10
First person – Kaitly Woodard	10
First person – Mohamadamin Forouzandehmehr	10
Contusions that reshape bone produce tidy conclusions	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
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	10
First person – Qingran Huo	10

Modeling Spitz melanoma in zebrafish using sequential mutagenesis	10
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	10
First person – Casey Griffin	10
Induction of pancreatic neoplasia in the KRAS/TP53 Oncopig	10
The loop-tail mouse model displays open and closed caudal neural tube defects	10
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	10
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	10
First person – Sevda Boyanova	10
Adult zebrafish as advanced models of human disease	10
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	10
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	10
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	9
First person – Chang Sun	9
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	9
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	9
Redefining tuberculosis: an interview with Lalita Ramakrishnan	9
Genetically diverse mouse platform to xenograft cancer cells	9
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	9
First person – Sabrina Alam	9
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	9
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	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
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	9
First person – Sarah Alghamdi	9
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	9
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	9
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	9
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	9
First person – Nefeli Skoufou-Papoutsaki	9
Mapping lung cancer ventilation dynamics: A pilot mouse study using functional imaging and lung mechanics	9
First person – Vanessa Gomez	9
Eyeing up the role of HTRA1 in age-related macular degeneration	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
Disease Models & Mechanisms helps move heart failure to heart success	8
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	8
Treatment of age-related visual impairment with a peptide acting on mitochondria	8
First person – Jimena Monzón-Sandoval	8
Expanding the neuroimmune research toolkit with in vivo brain organoid technologies	8
Lamin variants cause cardiac arrhythmogenicity in Drosophila	8
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	8
Impactful disease research: a DMM year in review	8
Embracing complexity in Drosophila cancer models	8
Uncovering an antifibrotic Prrx1-lineage mesenchymal cell subpopulation in fibrotic lungs	8
Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells	8
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	8
Synergistic modelling of human disease	8
The behavioural consequences of dystrophinopathy	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
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	8
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	8
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	8
First person – Ilaria Gregorio	8
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk	8
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	8
First person – Ionel Sandovici	7
A new network for the synergistic translation of mouse research	7
The Michael J. Fox Foundation's quest for a cure for Parkinson's disease: an interview with Nicole Polinski	7
First person – Anaïs Kervadec and James Kezos	7
Lateral thinking in syndromic congenital cardiovascular disease	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
Insulin at 100 years – is rebalancing its action key to fighting obesity-related disease?	7
Advances in diet-induced rodent models of metabolically acquired peripheral neuropathy	7
Variable body and tissue weight reporting in preclinical cachexia literature may alter study outcomes and interpretation	7
Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments	7
First person – Mark Hanson	7
Maximizing biomedical research impacts through bioethical considerations	7
First person – Xuming Zhu	7
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	7
A clinically relevant model of acute respiratory distress syndrome in human-size swine	7
Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis	7
Correction: Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	7
First person – Jun-yi Zhu	7
The viral arms race: an interview with Harmit Malik	7
Deep phenotyping for precision medicine in Parkinson's disease	7
Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy	7
Transcriptomic characterization of postnatal muscle maturation	7
Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation	7
Sex hormone receptors, calcium-binding protein and Yap1 signaling regulate sex-dependent liver cell proliferation following partial hepatectomy	7
Innovating spinal muscular atrophy models in the therapeutic era	7
The benefits, limitations and opportunities of preclinical models for neonatal drug development	7
First person – Amanda Miles	7
Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts	7
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease	7
Dysregulated mitochondrial metabolism upon cigarette smoke exposure in various human bronchial epithelial cell models	7
Smad4 restricts injury-provoked biliary proliferation and carcinogenesis	7
Defining RASopathy	7