Disease Models & Mechanisms

Article	Citations
miRNA interplay: mechanisms and consequences in cancer	230
Understanding the impact of fibroblast heterogeneity on skin fibrosis	96
Membrane trafficking in health and disease	86
Modeling neurodegeneration in Caenorhabditis elegans	82
Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders	48
Mitochondrial function in development and disease	48
Cell and animal models of SARS-CoV-2 pathogenesis and immunity	46
Mouse models of myocardial infarction: comparing permanent ligation and ischaemia-reperfusion	45
The RASopathies: from pathogenetics to therapeutics	41
Pulmonary neuroendocrine cells: physiology, tissue homeostasis and disease	40
Advancing lung organoids for COVID-19 research	38
Hyperuricemia causes kidney damage by promoting autophagy and NLRP3-mediated inflammation in rats with urate oxidase deficiency	36
Modelling epilepsy in the mouse: challenges and solutions	35
Building bridges, not walls: spinal cord regeneration in zebrafish	32
Recessive, gain-of-function toxicity in an APOL1 BAC transgenic mouse model mirrors human APOL1 kidney disease	31
Hyperoxia-induced bronchopulmonary dysplasia: better models for better therapies	31
Suppressing STAT3 activity protects the endothelial barrier from VEGF-mediated vascular permeability	28
Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation	28
Defining RASopathy	27
Autosomal recessive osteopetrosis: mechanisms and treatments	27
Interpreting protein variant effects with computational predictors and deep mutational scanning	26
Precision-based modeling approaches for necrotizing enterocolitis	25
Pyroptosis in host defence against bacterial infection	25
Humanized yeast to model human biology, disease and evolution	24
Sex differences in insulin resistance, but not peripheral neuropathy, in a diet-induced prediabetes mouse model	23

Neuromuscular disease modeling on a chip	23
The clinical manifestations, molecular mechanisms and treatment of craniosynostosis	23
Ammonia inhibits energy metabolism in astrocytes in a rapid and glutamate dehydrogenase 2-dependent manner	23
(Dis)Solving the problem of aberrant protein states	23
Mycobacteriophage–antibiotic therapy promotes enhanced clearance of drug-resistant Mycobacterium abscessus	22
Targeted repression of Plasmodium apicortin by host microRNA impairs malaria parasite growth and invasion	22
Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths	22
The power of Drosophila in modeling human disease mechanisms	21
A scalable, clinically severe pig model for Duchenne muscular dystrophy	21
Temporal patterning in neural progenitors: from Drosophila development to childhood cancers	20
Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma	20
A zebrafish-centric approach to antiepileptic drug development	19
Transcriptomic analyses of gastrulation-stage mouse embryos with differential susceptibility to alcohol	19
Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy	19
Chronic administration of P2X7 receptor antagonist JNJ-47965567 delays disease onset and progression, and improves motor performance in ALS SOD1G93A female mice	19
Ts66Yah, a mouse model of Down syndrome with improved construct and face validity	18
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	18
Comparison of the oncogenomic landscape of canine and feline hemangiosarcoma shows novel parallels with human angiosarcoma	18
Mapping the metabolomic and lipidomic changes in the bleomycin model of pulmonary fibrosis in young and aged mice	17
Cardiovascular phenotype of the Dmdmdx rat – a suitable animal model for Duchenne muscular dystrophy	17
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	17
Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes	17
A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy	17
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside	16
ALDH2 variance in disease and populations	16
Dissecting the phenotypic variability of osteogenesis imperfecta	16
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	16
Disruption of a Hedgehog-Foxf1-Rspo2 signaling axis leads to tracheomalacia and a loss of Sox9+ tracheal chondrocytes	16
TP53 loss initiates chromosomal instability in fallopian tube epithelial cells	16
Altered protein secretion in Batten disease	16
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	16
Metabolism navigates neural cell fate in development, aging and neurodegeneration	16
Bioluminescent imaging in induced mouse models of endometriosis reveals differences in four model variations	15
Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model	15
The zebrafish as a novel model for thein vivostudy ofToxoplasma gondiireplication and interaction with macrophages	15
Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans	15
Comparison of the pathogenesis of SARS-CoV-2 infection in K18-hACE2 mouse and Syrian golden hamster models	15
Mistargeting of secretory cargo in retromer-deficient cells	15
Regulation of murine copper homeostasis by members of the COMMD protein family	15
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases	15
AIRE deficiency, from preclinical models to human APECED disease	14
Mending a broken heart: In vitro, in vivo and in silico models of congenital heart disease	14
Cancer cachexia: lessons from Drosophila	14
Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models	14
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	14
High-dose vitamin B1 therapy prevents the development of experimental fatty liver driven by overnutrition	13
Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice	13
Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish	13
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	13
AMP-activated protein kinase promotes breast cancer stemness and drug resistance	12

RAS pathway regulation in melanoma	12
Longitudinal multimodal imaging-compatible mouse model of triazole-sensitive and -resistant invasive pulmonary aspergillosis	12
Alternative RNA splicing in tumour heterogeneity, plasticity and therapy	12
Advances in diet-induced rodent models of metabolically acquired peripheral neuropathy	12
Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney	12
Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance	12
Investigating local and systemic intestinal signalling in health and disease with Drosophila	12
Treatment of age-related visual impairment with a peptide acting on mitochondria	12
RAS and beyond: the many faces of the neurofibromatosis type 1 protein	12
Novel patient-derived models of desmoplastic small round cell tumor confirm a targetable dependency on ERBB signaling	12
It takes a village: microbiota, parainflammation, paligenosis and bystander effects in colorectal cancer initiation	11
Inducible expression of human C9ORF72 36× G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice	11
Modulation of serotonin in the gut-liver neural axis ameliorates the fatty and fibrotic changes in non-alcoholic fatty liver	11
Murine myeloid cell MCPIP1 suppresses autoimmunity by regulating B-cell expansion and differentiation	11
Automated in vivo drug screen in zebrafish identifies synapse-stabilising drugs with relevance to spinal muscular atrophy	11
Zebrafish as a tool to study schizophrenia-associated copy number variants	11
An anti-tuberculosis compound screen using a zebrafish infection model identifies an aspartyl-tRNA synthetase inhibitor	11
Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions	11
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy	11
Neural crest-specific loss ofBmp7leads to midfacial hypoplasia, nasal airway obstruction and disordered breathing, modeling obstructive sleep apnea	11
Dysregulated mitochondrial metabolism upon cigarette smoke exposure in various human bronchial epithelial cell models	10
Implications of exosomes derived from cholesterol-accumulated astrocytes in Alzheimer's disease pathology	10
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	10
Current approaches and advances in the imaging of stroke	10
The future of sickle cell disease therapeutics rests in genomics	10
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	10
K-Ras and p53 mouse model with molecular characteristics of human rhabdomyosarcoma and translational applications	10
Autophagy takes it all – autophagy inducers target immune aging	10
Hot to touch: the story of the 2021 Nobel Prize in Physiology or Medicine	10
Prediction of biological age by morphological staging of sarcopenia in Caenorhabditis elegans	10
Intestinal barrier dysfunction: an evolutionarily conserved hallmark of aging	10
Increased cysteine metabolism in PINK1 models of Parkinson's disease	9
The multicellular interplay of microglia in health and disease: lessons from leukodystrophy	9
Lipopolysaccharide distinctively alters human microglia transcriptomes to resemble microglia from Alzheimer's disease mouse models	9
Application of an F0-based genetic assay in adult zebrafish to identify modifier genes of an inherited cardiomyopathy	9
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	9
A Matrigel-based 3D construct of SH-SY5Y cells models the α-synuclein pathologies of Parkinson's disease	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
The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression	9
Synergic effect of atorvastatin and ambrisentan on sinusoidal and hemodynamic alterations in a rat model of NASH	9
A translation-independent function of PheRS activates growth and proliferation in Drosophila	9
Loss of p21-activated kinase Mbt/PAK4 causes Parkinson-like phenotypes inDrosophila	9
Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effects	9
Snrpb is required in murine neural crest cells for proper splicing and craniofacial morphogenesis	9
RET inhibition in novel patient-derived models of RET fusion- positive lung adenocarcinoma reveals a role for MYC upregulation	9
Restoration of motor learning in a mouse model of Rett syndrome following long-term treatment with a novel small-molecule activator of TrkB	9
A motor neuron disease mouse model reveals a non-canonical profile of senescence biomarkers	9
MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model	8
Genetically diverse mouse platform to xenograft cancer cells	8
Of numbers and movement – understanding transcription factor pathogenesis by advanced microscopy	8
A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice	8
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	8
The zebrafish embryo as an in vivo model for screening nanoparticle-formulated lipophilic anti-tuberculosis compounds	8
Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome	8
Oxidative stress induces lysosomal membrane permeabilization and ceramide accumulation in retinal pigment epithelial cells	8
Metabolic reprogramming in cancer: mechanistic insights from Drosophila	8
The developing epicardium regulates cardiac chamber morphogenesis by promoting cardiomyocyte growth	8
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	8
Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in D ystonia musculorum mice	8
Zebrafish drug screening identifies candidate therapies for neuroprotection after spontaneous intracerebral haemorrhage	8
Flow cytometry allows rapid detection of protein aggregates in cellular and zebrafish models of spinocerebellar ataxia 3	8
Limitations of mouse models for sickle cell disease conferred by their human globin transgene configurations	8
Promoting validation and cross-phylogenetic integration in model organism research	8
Abnormal brain development of monoamine oxidase mutant zebrafish and impaired social interaction of heterozygous fish	8
The twin pillars of Disease Models & Mechanisms	8
The liver metastatic niche: modelling the extracellular matrix in metastasis	8
TDP-43 mislocalization drives neurofilament changes in a novel model of TDP-43 proteinopathy	8
The rat rotenone model reproduces the abnormal pattern of central catecholamine metabolism found in Parkinson's disease	8
Brain transcriptomes of zebrafish and mouse Alzheimer's disease knock-in models imply early disrupted energy metabolism	8
Clinically relevant orthotopic xenograft models of patient-derived glioblastoma in zebrafish	8
Transcriptional targets of amyotrophic lateral sclerosis/frontotemporal dementia protein TDP-43 – meta-analysis and interactive graphical database	8
Thiopurines correct the effects of autophagy impairment on intestinal healing – a potential role for ARHGAP18/RhoA	7
Physiological tissue-specific and age-related reduction of mouse TDP-43 levels is regulated by epigenetic modifications	7
Therapeutic potential of macrophage colony-stimulating factor in chronic liver disease	7
DUX4 expression activates JNK and p38 MAP kinases in myoblasts	7
Context matters – Daxx and Atrx are not robust tumor suppressors in the murine endocrine pancreas	7
The darkness and the light: diurnal rodent models for seasonal affective disorder	7
Activation of innate immunity during development induces unresolved dysbiotic inflammatory gut and shortens lifespan	7
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model	7
Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts	7

Exercise, programmed cell death and exhaustion of cardiomyocyte proliferation in aging zebrafish	7
Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7	7
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	7
Statins mediate anti- and pro-tumourigenic functions by remodelling the tumour microenvironment	7
The MEMIC is an ex vivo system to model the complexity of the tumor microenvironment	7
The Finnish genetic heritage in 2022 – from diagnosis to translational research	7
EZH2 is required for parathyroid and thymic development through differentiation of the third pharyngeal pouch endoderm	7
Cell competition from development to neurodegeneration	7
Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis	7
A kidney resident macrophage subset is a candidate biomarker for renal cystic disease in preclinical models	7
High-dimensional immunotyping of tumors grown in obese and non-obese mice	7
Rapamycin modulates pulmonary pathology in a murine model of Mycobacterium tuberculosis infection	7
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	7
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy	7
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome	7
ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster	7
Crosstalk between androgen receptor and WNT/β-catenin signaling causes sex-specific adrenocortical hyperplasia in mice	7
Neonatal and infant immunity for tuberculosis vaccine development: importance of age-matched animal models	7
Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia	6
Integrating fish models in tuberculosis vaccine development	6
The Paget's disease of bone risk gene PML is a negative regulator of osteoclast differentiation and bone resorption	6
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	6
Accessible analysis of longitudinal data with linear mixed effects models	6
Subcellular localization of mutant P23H rhodopsin in an RFP fusion knock-in mouse model of retinitis pigmentosa	6
A protein-trap allele reveals roles for Drosophila ATF4 in photoreceptor degeneration, oogenesis and wing development	6
Transformed notochordal cells trigger chronic wounds in zebrafish, destabilizing the vertebral column and bone homeostasis	6
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease	6
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	6
Building a healthy mouse model ecosystem to interrogate cancer biology	6
Consensus guidelines on the construct validity of rodent models of restless legs syndrome	6
Fate mapping melanoma persister cells through regression and into recurrent disease in adult zebrafish	6
New advances in CRISPR/Cas-mediated precise gene-editing techniques	6
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons	6
AnFgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton	6
Integrative genomic analysis of blood pressure and related phenotypes in rats	6
An adherent-invasive Escherichia coli-colonized mouse model to evaluate microbiota-targeting strategies in Crohn's disease	6
Modeling the developmental origins of pediatric cancer to improve patient outcomes	6
Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat	6
Extensor carpi ulnaris muscle shows unexpected slow-to-fast fiber-type switch in Duchenne muscular dystrophy dogs	6
Haematopoietic ageing through the lens of single-cell technologies	6
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy	6
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants	6
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	6
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	6
Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish	6
Tissue architecture delineates field cancerization in BRAFV600E-induced tumor development	6
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	6
Validation of DE50-MD dogs as a model for the brain phenotype of Duchenne muscular dystrophy	6
Natural history of a mouse model of X-linked myotubular myopathy	6
Joint development recovery on resumption of embryonic movement following paralysis	6
Cellular and animal models for facioscapulohumeral muscular dystrophy	6
Pharmacological or genetic inhibition of hypoxia signaling attenuates oncogenic RAS-induced cancer phenotypes	6
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	6
Cerebral malaria – modelling interactions at the blood–brain barrier in vitro	6
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	6
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	6
Targeting firing rate neuronal homeostasis can prevent seizures	6