Disease Models & Mechanisms

Article	Citations
First person – Ariany Oliveira-Santos	411
First person – Eleni Christoforidou	95
First person – Pavitra Prakash	90
First person – Salil Sukumaran	62
First person – Chloe Stanton	46
First person – Jiří Funda	43
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	43
Improving bench-to-bedside translation for acute graft-versus-host disease models	42
A chance to turn HIV treatment up a Notch	42
First person – Karen Boschen	41
First person – Kathrin Pfeifer	40
Drop the MYC: An expansion of triple-negative breast cancer driver genes	40
Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models	39
New Drosophila models to uncover the intrinsic and extrinsic factors that mediate the toxicity of the human prion protein	38
Nonlinear progression during the occult transition establishes cancer lethality	38
First person – Sarah Escuin and Saba Raza-Knight	37
First person – Diego Baronio	33
First person – Bernhard N. Bohnert	33
First person – Rodanthi Lyraki	32
First person – Toni Lemmetyinen	30
Improving access to gene therapy for rare diseases	29
First person – Kevin Zhang	29
First person – Li Wang	29
First person – Eleanor McKay	28
Sphingolipid imbalances inflame the bowel	27

eNOS in congenital to adult cardiovascular disease	27
First person – Abdulsalam Isiaku	26
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	26
First person – Sarah Elzinga	25
Let's talk about sex… obesity and melanoma	24
First person – Sabrina Yahiya	24
First person – Femke (Fen) van Rhijn-Brouwer	24
First person – Conor McGrath	24
New drugs to squash the spread of malaria	24
First person – Hanna Berger and Sarah Gerstner	24
Genetic tricks to track melanoma heterogeneity	22
First person – Jun-yi Zhu and Xiaohu Huang	22
First person – Emily Warren	22
The importance of figures in scientific ‘show and tell’	21
First person – Zariah Tolman	21
Decoding the genetics of rare disease: an interview with Monkol Lek	21
Science under siege: protecting scientific progress in turbulent times	20
Patient-derived xenograft models of gastrointestinal stromal tumors provide a ready-to-use platform for translational research	20
CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern	20
Translational lessons from the balanced immune system in bats	20
Building advocacy into research	19
First person – Joshua Ginzel	19
OPA1 deficiency impairs oxidative metabolism in cycling cells, underlining a translational approach for degenerative diseases	19
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	19
See[ing] elegance in sensory biology: an interview with Piali Sengupta	19
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models	18
Transcriptomic analysis of diabetic kidney disease and neuropathy in mouse models of type 1 and type 2 diabetes	17
Efficient genetic editing of human intestinal organoids using ribonucleoprotein-based CRISPR	17
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	17
Lung Cancer Europe challenges stigma: an interview with Anne-Marie Baird	17
Conditional in vivo deletion of LYN kinase has little effect on a BRCA1 loss-of-function-associated mammary tumour model	17
Altered binding affinity of SIX1-Q177R correlates with enhanced WNT5A and WNT pathway effector expression in Wilms tumor	17
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	16
Degron tagging for rapid protein degradation in mice	16
Functional exploration of copy number alterations in a Drosophila model of triple-negative breast cancer	16
Playing the genetic lottery: an interview with Kiran Musunuru	16
Key considerations to improve the normalization, interpretation and reproducibility of morbidity data in mammalian models of viral disease	16
MAP3K1 regulates female reproductive tract development	16
Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders	16
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	16
Systematic review and meta-analysis of the effect of bone marrow-derived cell therapies on hind limb perfusion	16
Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects	16
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	15
CCL2 signaling promotes skeletal muscle wasting in non-tumor and breast tumor models	15
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	15
Molecular functions of ANKLE2 and its implications in human disease	15
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	15
Translating multiscale research in rare disease	15
Computational identification of disease models through cross-species phenotype comparison	15
Optimized methods to image hepatic lipid droplets in zebrafish larvae	14

Modulation of SNARE-dependent exocytosis in astrocytes improves neuropathology in Huntington's disease	14
Automated in vivo drug screen in zebrafish identifies synapse-stabilising drugs with relevance to spinal muscular atrophy	14
The highly metastatic 4T1 breast carcinoma model possesses features of a hybrid epithelial/mesenchymal phenotype	14
The role of mesenchymal cells in cholangiocarcinoma	14
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome	14
Tissue architecture delineates field cancerization in BRAFV600E-induced tumor development	14
Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b	14
Timing is everything: an inducible model for neurofibromatosis type 2 in zebrafish	14
AnFgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton	14
Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome	13
Building a healthy mouse model ecosystem to interrogate cancer biology	13
Knockout mice are an important tool for human monogenic heart disease studies	13
ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster	13
Studying Müllerian duct anomalies – from cataloguing phenotypes to discovering causation	13
The Finnish genetic heritage in 2022 – from diagnosis to translational research	13
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	13
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	13
Distinct fingerprints of tRNA-derived small non-coding RNA in animal models of neurodegeneration	13
Loss of p21-activated kinase Mbt/PAK4 causes Parkinson-like phenotypes inDrosophila	13
Mouse models of fragile X-related disorders	13
Ultrasound-stimulated microbubbles enhanced vascular disruption in fractionated radiotherapy-treated tumours via ASMase activation	13
Extramedullary multiple myeloma patient-derived orthotopic xenograft with a highly altered genome: combined molecular and therapeutic studies	13
How to generate graded spinal cord injuries in swine – tools and procedures	12
The rat rotenone model reproduces the abnormal pattern of central catecholamine metabolism found in Parkinson's disease	12
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	12
Intrinsic and damage-induced JAK/STAT signaling regulate developmental timing by the Drosophila prothoracic gland	12
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	12
Integrative transcriptomic profiling of a mouse model of hypertension-accelerated diabetic kidney disease	12
Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos	12
Parietal epithelial cells maintain the epithelial cell continuum forming Bowman's space in focal segmental glomerulosclerosis	12
Alternative RNA splicing in tumour heterogeneity, plasticity and therapy	12
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	12
Novel patient-derived models of desmoplastic small round cell tumor confirm a targetable dependency on ERBB signaling	12
Molecular Subtyping Resource: a user-friendly tool for rapid biological discovery from transcriptional data	12
Zebrafish drug screening identifies candidate therapies for neuroprotection after spontaneous intracerebral haemorrhage	12
RAS-mediated tumor stress adaptation and the targeting opportunities it presents	11
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	11
Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment	11
Humanized yeast to model human biology, disease and evolution	11
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency	11
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants	11
The Paget's disease of bone risk gene PML is a negative regulator of osteoclast differentiation and bone resorption	11
Short-term and bystander effects of radiation on murine submandibular glands	11
Lord of the fruit flies: an interview with Hugo Bellen	11
Cancer cachexia: lessons from Drosophila	11
Development of a novel human intestinal model to elucidate the effect of anaerobic commensals on Escherichia coli infection	11
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	11
Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	11
A gut microbiome metabolite paradoxically depresses contractile function while activating mitochondrial respiration	10
Natural history of a mouse model of X-linked myotubular myopathy	10
Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations	10
Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish	10
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	10
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	10
First person – Xiao Li	10
Immature human engineered heart tissues engraft in a guinea pig chronic injury model	10
A motor neuron disease mouse model reveals a non-canonical profile of senescence biomarkers	10
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	10
Activation of innate immunity during development induces unresolved dysbiotic inflammatory gut and shortens lifespan	10
Metabolism navigates neural cell fate in development, aging and neurodegeneration	10
Microvesicle release from inner segments of healthy photoreceptors is a conserved phenomenon in mammalian species	10
iPSCs derived from esophageal atresia patients reveal SOX2 dysregulation at the anterior foregut stage	10
The Mouse Models of Human Cancer database (MMHCdb)	10
Understanding and modeling nerve–cancer interactions	10
First person – Patricia Dranchak	10
Correction: Modulation of serotonin in the gut-liver neural axis ameliorates the fatty and fibrotic changes in non-alcoholic fatty liver	10
IL-33 regulates Müller cell-mediated retinal inflammation and neurodegeneration in diabetic retinopathy	10
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy	10
Transcriptomic analyses of gastrulation-stage mouse embryos with differential susceptibility to alcohol	10
Lack of expression of miR-29a/b1 impairs bladder function in male mice	10
Dissecting the phenotypic variability of osteogenesis imperfecta	10
Translating non-coding genetic associations into a better understanding of immune-mediated disease	10
Muscle-on-a-chip devices: a new era for in vitro modelling of muscular dystrophies	10
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	10
Pyroptosis in host defence against bacterial infection	10
Valuing peer review at Disease Models & Mechanisms	9
Validity of Xiphophorus fish as models for human disease	9
Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C	9
Caenorhabditis elegansfor research on cancer hallmarks	9
Studying exogenous extracellular vesicle biodistribution byin vivofluorescence microscopy	9

Ascorbate protects human kidney organoids from damage induced by cell-free hemoglobin	9
Nuclear mechanosensing of the aortic endothelium in health and disease	9
Telomere length is an epigenetic trait – Implications for the use of telomerase-deficient organisms to model human disease	9
Adult zebrafish as advanced models of human disease	9
Zebrafish regulatory genomic resources for disease modelling and regeneration	9
The loop-tail mouse model displays open and closed caudal neural tube defects	9
Barriers to equality, diversity and inclusion in research and academia stubbornly persist. So, what are we doing about it?	9
Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder	9
Membrane transporters in cell physiology, cancer metabolism and drug response	9
Striatal parvalbumin interneurons are activated in a mouse model of cerebellar dystonia	9
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality	9
Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3	9
Crossroads in virology: current challenges and future perspectives in the age of emerging viruses	9
Contusions that reshape bone produce tidy conclusions	8
Macrophages directly kill bladder cancer cells through TNF signaling as an early response to BCG therapy	8
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	8
A Drosophila model for mechanistic investigation of tau protein spread	8
ALDH2 variance in disease and populations	8
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	8
The liver metastatic niche: modelling the extracellular matrix in metastasis	8
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	8
Axolotl mandible regeneration occurs through mechanical gap closure and a shared regenerative program with the limb	8
In silico study of the mechanisms of hypoxia and contractile dysfunction during ischemia and reperfusion of hiPSC cardiomyocytes	8
A genetically small fetus impairs placental adaptations near term	8
Ronin overexpression induces cerebellar degeneration in a mouse model of ataxia	8
Monitoring of inflammation using novel biosensor mouse model reveals tissue- and sex-specific responses to Western diet	8
Slc26a2-mediated sulfate metabolism is important in tooth development	8
Hsp40 overexpression in pacemaker neurons delays circadian dysfunction in a Drosophila model of Huntington's disease	8
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches	8
Biological resilience in health and disease	8
High-throughput assays to assess variant effects on disease	8
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	8
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	8
Hippo cooperates with p53 to regulate lung airway mucous cell metaplasia	8
Evaluation of renal microperfusion in hyperuricemic nephropathy by contrast-enhanced ultrasound imaging	8
Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance	8
K-Ras and p53 mouse model with molecular characteristics of human rhabdomyosarcoma and translational applications	8
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	8
The value of slow-burning science: an interview with Peter Friedl and Bettina Weigelin	8
Low HER2 expression in normal breast epithelium enables dedifferentiation and malignant transformation via chromatin opening	7
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	7
Fate mapping melanoma persister cells through regression and into recurrent disease in adult zebrafish	7
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	7
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder–Robinson syndrome	7
Elevated murine HB-EGF confers sensitivity to diphtheria toxin in EGFR-mutant lung adenocarcinoma	7
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	7
Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	7
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	7
First person – Kaitly Woodard	7
First person – Christy Tulen and Ying Wang	7
Correction: ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster	7
In vivoquantitative high-throughput screening for drug discovery and comparative toxicology	7
Molecular inhibition of RAS signalling to target ageing and age-related health	7
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	7
Modelling inner ear development and disease using pluripotent stem cells – a pathway to new therapeutic strategies	7
First person – Ateequllah Hayat	7
KNTC1 introduces segmental heterogeneity to mitochondria	7
Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions	7
Impaired aerobic capacity and premature fatigue preceding muscle weakness in the skeletal muscle Tfam-knockout mouse model	7
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy	7
First person – Zhang Li	7
The Company of Biologists: celebrating 100 years	7
First person – Elia Escasany	7
The MEMIC is an ex vivo system to model the complexity of the tumor microenvironment	7
The shifting culture of the scientific workforce – a change for women and girls in science	7
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	7
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	7
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	7
First person – Michael Robichaux	7
Biology, technology and a bit of serendipity: an interview with Shiva Malek	7
Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish	7
Advancing lung organoids for COVID-19 research	7
First person – Nichole Link	7
First person – Blake Smith	7
COVID-19's next top model	7
First person – Venkatram Yellapragada	7
Correction: Molecular characterization of hepatocarcinogenesis using mouse models	6
Working to enhance the accessibility of Disease Models & Mechanisms	6
First person – Mohamadamin Forouzandehmehr	6
Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice	6
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	6
A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome	6
New advances in CRISPR/Cas-mediated precise gene-editing techniques	6
First person – Hung-Ju Chiang	6
Evolution and immunopathology of chikungunya virus informs therapeutic development	6
FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways	6
Pasteur's legacy persists: an interview with Pascale Cossart	6
First person – Sheeza Mughal	6
A bending breakthrough in dystrophic cardiomyopathy	6
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases	6
Correction: Zebrafish larvae exposed to ginkgotoxin exhibit seizure-like behavior that is relieved by pyridoxal-5′-phosphate, GABA and anti-epileptic drugs	6
Lifting the cloche: Jeroen Bakkers interviews Didier Stainier	6
Induction of pancreatic neoplasia in the KRAS/TP53 Oncopig	6
Therapeutic targeting of vascular malformation in a zebrafish model of hereditary haemorrhagic telangiectasia	6
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	6