Disease Models & Mechanisms

Article	Citations
miRNA interplay: mechanisms and consequences in cancer	336
Mitochondrial function in development and disease	81
The RASopathies: from pathogenetics to therapeutics	61
Mouse models of myocardial infarction: comparing permanent ligation and ischaemia-reperfusion	54
Hyperuricemia causes kidney damage by promoting autophagy and NLRP3-mediated inflammation in rats with urate oxidase deficiency	50
Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease	48
Hyperoxia-induced bronchopulmonary dysplasia: better models for better therapies	43
Modelling epilepsy in the mouse: challenges and solutions	40
Advancing lung organoids for COVID-19 research	39
Recessive, gain-of-function toxicity in an APOL1 BAC transgenic mouse model mirrors human APOL1 kidney disease	37
Defining RASopathy	37
Interpreting protein variant effects with computational predictors and deep mutational scanning	36
Suppressing STAT3 activity protects the endothelial barrier from VEGF-mediated vascular permeability	36
The power of Drosophila in modeling human disease mechanisms	34
The clinical manifestations, molecular mechanisms and treatment of craniosynostosis	33
Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation	33
Autosomal recessive osteopetrosis: mechanisms and treatments	32
Mycobacteriophage–antibiotic therapy promotes enhanced clearance of drug-resistant Mycobacterium abscessus	31
Sex differences in insulin resistance, but not peripheral neuropathy, in a diet-induced prediabetes mouse model	30
Humanized yeast to model human biology, disease and evolution	29
Pyroptosis in host defence against bacterial infection	29
Akkermansia muciniphila promotes type H vessel formation and bone fracture healing by reducing gut permeability and inflammation	28
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	28
Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths	26
Intestinal barrier dysfunction: an evolutionarily conserved hallmark of aging	26

A scalable, clinically severe pig model for Duchenne muscular dystrophy	26
(Dis)Solving the problem of aberrant protein states	25
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	24
Comparison of the oncogenomic landscape of canine and feline hemangiosarcoma shows novel parallels with human angiosarcoma	24
Bioluminescent imaging in induced mouse models of endometriosis reveals differences in four model variations	24
Metabolism navigates neural cell fate in development, aging and neurodegeneration	24
RAS and beyond: the many faces of the neurofibromatosis type 1 protein	23
Dissecting the phenotypic variability of osteogenesis imperfecta	23
A zebrafish-centric approach to antiepileptic drug development	23
Ts66Yah, a mouse model of Down syndrome with improved construct and face validity	22
Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy	22
Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model	21
Mapping the metabolomic and lipidomic changes in the bleomycin model of pulmonary fibrosis in young and aged mice	21
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	20
TP53 loss initiates chromosomal instability in fallopian tube epithelial cells	20
Transcriptomic analyses of gastrulation-stage mouse embryos with differential susceptibility to alcohol	20
Alternative RNA splicing in tumour heterogeneity, plasticity and therapy	19
Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes	19
ALDH2 variance in disease and populations	19
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	18
High-dose vitamin B1 therapy prevents the development of experimental fatty liver driven by overnutrition	18
Cancer cachexia: lessons from Drosophila	18
Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart	18
Synergic effect of atorvastatin and ambrisentan on sinusoidal and hemodynamic alterations in a rat model of NASH	18
Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models	18
Comparison of the pathogenesis of SARS-CoV-2 infection in K18-hACE2 mouse and Syrian golden hamster models	18
Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice	17
AMP-activated protein kinase promotes breast cancer stemness and drug resistance	17
Regulation of murine copper homeostasis by members of the COMMD protein family	17
Cardiovascular phenotype of the Dmdmdx rat – a suitable animal model for Duchenne muscular dystrophy	17
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	16
Disruption of a Hedgehog-Foxf1-Rspo2 signaling axis leads to tracheomalacia and a loss of Sox9+ tracheal chondrocytes	16
AIRE deficiency, from preclinical models to human APECED disease	16
Novel patient-derived models of desmoplastic small round cell tumor confirm a targetable dependency on ERBB signaling	16
Investigating local and systemic intestinal signalling in health and disease with Drosophila	16
Altered protein secretion in Batten disease	16
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy	16
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases	16
Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans	16
An anti-tuberculosis compound screen using a zebrafish infection model identifies an aspartyl-tRNA synthetase inhibitor	16
RAS pathway regulation in melanoma	16
Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish	16
Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney	15
Mistargeting of secretory cargo in retromer-deficient cells	15
Mending a broken heart: In vitro, in vivo and in silico models of congenital heart disease	15
Advances in diet-induced rodent models of metabolically acquired peripheral neuropathy	14
Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites	14
Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice	14
Increased cysteine metabolism in PINK1 models of Parkinson's disease	14
Oxidative stress induces lysosomal membrane permeabilization and ceramide accumulation in retinal pigment epithelial cells	14

Implications of exosomes derived from cholesterol-accumulated astrocytes in Alzheimer's disease pathology	14
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration	14
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	14
Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance	14
The developing epicardium regulates cardiac chamber morphogenesis by promoting cardiomyocyte growth	13
Loss of p21-activated kinase Mbt/PAK4 causes Parkinson-like phenotypes inDrosophila	13
It takes a village: microbiota, parainflammation, paligenosis and bystander effects in colorectal cancer initiation	13
K-Ras and p53 mouse model with molecular characteristics of human rhabdomyosarcoma and translational applications	13
Dysregulated mitochondrial metabolism upon cigarette smoke exposure in various human bronchial epithelial cell models	13
Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions	13
Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effects	13
Hot to touch: the story of the 2021 Nobel Prize in Physiology or Medicine	12
Treatment of age-related visual impairment with a peptide acting on mitochondria	12
Prediction of biological age by morphological staging of sarcopenia in Caenorhabditis elegans	12
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	12
Automated in vivo drug screen in zebrafish identifies synapse-stabilising drugs with relevance to spinal muscular atrophy	12
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	12
Modulation of serotonin in the gut-liver neural axis ameliorates the fatty and fibrotic changes in non-alcoholic fatty liver	12
MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model	12
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	12
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	12
The Finnish genetic heritage in 2022 – from diagnosis to translational research	12
Murine myeloid cell MCPIP1 suppresses autoimmunity by regulating B-cell expansion and differentiation	12
The future of sickle cell disease therapeutics rests in genomics	12
Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB	12
Longitudinal multimodal imaging-compatible mouse model of triazole-sensitive and -resistant invasive pulmonary aspergillosis	12
Concerted regulation of non-alcoholic fatty liver disease progression by microRNAs in apolipoprotein E-deficient mice	11
Limitations of mouse models for sickle cell disease conferred by their human globin transgene configurations	11
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy	11
The rat rotenone model reproduces the abnormal pattern of central catecholamine metabolism found in Parkinson's disease	11
Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis	11
Current approaches and advances in the imaging of stroke	11
Application of an F0-based genetic assay in adult zebrafish to identify modifier genes of an inherited cardiomyopathy	11
3D quantification of changes in pancreatic islets in mouse models of diabetes type I and II	11
Accessible analysis of longitudinal data with linear mixed effects models	11
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	11
Neural crest-specific loss ofBmp7leads to midfacial hypoplasia, nasal airway obstruction and disordered breathing, modeling obstructive sleep apnea	11
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy	10
A motor neuron disease mouse model reveals a non-canonical profile of senescence biomarkers	10
A Matrigel-based 3D construct of SH-SY5Y cells models the α-synuclein pathologies of Parkinson's disease	10
RET inhibition in novel patient-derived models of RET fusion- positive lung adenocarcinoma reveals a role for MYC upregulation	10
The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression	10
Lipopolysaccharide distinctively alters human microglia transcriptomes to resemble microglia from Alzheimer's disease mouse models	10
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	10
New advances in CRISPR/Cas-mediated precise gene-editing techniques	10
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	10
Autophagy takes it all – autophagy inducers target immune aging	10
Abnormal brain development of monoamine oxidase mutant zebrafish and impaired social interaction of heterozygous fish	10
Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7	10
Genetically diverse mouse platform to xenograft cancer cells	10
Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney	10
TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy	10
Clinically relevant orthotopic xenograft models of patient-derived glioblastoma in zebrafish	10
A mouse model of brittle cornea syndrome caused by mutation in Zfp469	10
Longitudinal in vivo imaging of adult Danionella cerebrum using standard confocal microscopy	10
Immune function and dysfunction are determined by lymphoid tissue efficacy	10
The multicellular interplay of microglia in health and disease: lessons from leukodystrophy	9
Promoting validation and cross-phylogenetic integration in model organism research	9
DUX4 expression activates JNK and p38 MAP kinases in myoblasts	9
Using systems medicine to identify a therapeutic agent with potential for repurposing in inflammatory bowel disease	9
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	9
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome	9
Crosstalk between androgen receptor and WNT/β-catenin signaling causes sex-specific adrenocortical hyperplasia in mice	9
The zebrafish embryo as an in vivo model for screening nanoparticle-formulated lipophilic anti-tuberculosis compounds	9
High-dimensional immunotyping of tumors grown in obese and non-obese mice	9
Transcriptional targets of amyotrophic lateral sclerosis/frontotemporal dementia protein TDP-43 – meta-analysis and interactive graphical database	9
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	9
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	9
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality	9
Zebrafish drug screening identifies candidate therapies for neuroprotection after spontaneous intracerebral haemorrhage	9
Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome	9
Head-to-head study of oxelumab and adalimumab in a mouse model of ulcerative colitis based on NOD/Scid IL2Rγnull mice reconstituted with human peripheral blood mononuclear cells	9
Metabolic reprogramming in cancer: mechanistic insights from Drosophila	9
A DUSP6 inhibitor suppresses inflammatory cardiac remodeling and improves heart function after myocardial infarction	9
Rapamycin modulates pulmonary pathology in a murine model of Mycobacterium tuberculosis infection	9
Fate mapping melanoma persister cells through regression and into recurrent disease in adult zebrafish	9
A translation-independent function of PheRS activates growth and proliferation in Drosophila	9
Natural history of a mouse model of X-linked myotubular myopathy	9
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	9
Heart in a dish – choosing the rightin vitromodel	9

Physiological tissue-specific and age-related reduction of mouse TDP-43 levels is regulated by epigenetic modifications	8
Western lifestyle as a driver of dysbiosis in colorectal cancer	8
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	8
A novel yeast model detects Nrf2 and Keap1 interactions with Hsp90	8
Cell competition from development to neurodegeneration	8
The liver metastatic niche: modelling the extracellular matrix in metastasis	8
Deep phenotyping for precision medicine in Parkinson's disease	8
Microvesicle release from inner segments of healthy photoreceptors is a conserved phenomenon in mammalian species	8
Exercise, programmed cell death and exhaustion of cardiomyocyte proliferation in aging zebrafish	8
Ultrasound-stimulated microbubbles enhanced vascular disruption in fractionated radiotherapy-treated tumours via ASMase activation	8
How inclusive are cell lines in preclinical engineered cancer models?	8
Therapeutic potential of macrophage colony-stimulating factor in chronic liver disease	8
The twin pillars of Disease Models & Mechanisms	8
Exposure to e-cigarette vapor extract induces vocal fold epithelial injury and triggers intense mucosal remodeling	8
Brain transcriptomes of zebrafish and mouse Alzheimer's disease knock-in models imply early disrupted energy metabolism	8
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	8
Modeling the developmental origins of pediatric cancer to improve patient outcomes	8
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants	8
A novel injury paradigm in the central nervous system of adult Drosophila: molecular, cellular and functional aspects	8
ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	8
A kidney resident macrophage subset is a candidate biomarker for renal cystic disease in preclinical models	8
Tellu – an object-detector algorithm for automatic classification of intestinal organoids	8
Context matters – Daxx and Atrx are not robust tumor suppressors in the murine endocrine pancreas	8
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model	8
Of numbers and movement – understanding transcription factor pathogenesis by advanced microscopy	8
Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency	8
The darkness and the light: diurnal rodent models for seasonal affective disorder	8
Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis	8
Activation of innate immunity during development induces unresolved dysbiotic inflammatory gut and shortens lifespan	8
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal	7
Muscle-on-a-chip devices: a new era for in vitro modelling of muscular dystrophies	7
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	7
Immature human engineered heart tissues engraft in a guinea pig chronic injury model	7
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	7
A zebrafish model of combined saposin deficiency identifies acid sphingomyelinase as a potential therapeutic target	7
Joint development recovery on resumption of embryonic movement following paralysis	7
CYLD in health and disease	7
A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes	7
Gene editing innovations and their applications in cardiomyopathy research	7
Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast	7
PTCH1-mutant human cerebellar organoids exhibit altered neural development and recapitulate early medulloblastoma tumorigenesis	7
Molecular inhibition of RAS signalling to target ageing and age-related health	7
Molecular Subtyping Resource: a user-friendly tool for rapid biological discovery from transcriptional data	7
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	7
Understanding and modeling nerve–cancer interactions	7
Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3	7
Subcellular localization of mutant P23H rhodopsin in an RFP fusion knock-in mouse model of retinitis pigmentosa	7
Validation of DE50-MD dogs as a model for the brain phenotype of Duchenne muscular dystrophy	7
Extensor carpi ulnaris muscle shows unexpected slow-to-fast fiber-type switch in Duchenne muscular dystrophy dogs	7
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	7
Statins mediate anti- and pro-tumourigenic functions by remodelling the tumour microenvironment	7
Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia	7
The MEMIC is an ex vivo system to model the complexity of the tumor microenvironment	7
Mouse models of fragile X-related disorders	7
EZH2 is required for parathyroid and thymic development through differentiation of the third pharyngeal pouch endoderm	7
Cerebellar neuronal dysfunction accompanies early motor symptoms in spinocerebellar ataxia type 3	7
Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts	7
Thiopurines correct the effects of autophagy impairment on intestinal healing – a potential role for ARHGAP18/RhoA	7
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	7
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	7