Disease Models & Mechanisms

Article	Citations
Let's talk about sex… obesity and melanoma	98
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	64
Drop the MYC: An expansion of triple-negative breast cancer driver genes	57
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	52
A chance to turn HIV treatment up a Notch	51
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	47
Optimized methods to image hepatic lipid droplets in zebrafish larvae	47
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	47
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	44
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	43
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	42
Metabolism navigates neural cell fate in development, aging and neurodegeneration	39
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	34
Altered huntingtin−chromatin interactions predict transcriptional and epigenetic changes in Huntington's disease	34
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	34
Molecular functions of ANKLE2 and its implications in human disease	33
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	33
Cancer cachexia: lessons from Drosophila	32
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	31
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	31
First person – Nichole Link	29
Validity of Xiphophorus fish as models for human disease	29
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	28
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	28
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	27

First person – Sheeza Mughal	26
frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma	26
First person – Mayra Fernanda Martínez-López	25
The Company of Biologists: celebrating 100 years	24
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	24
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	24
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	24
The shifting culture of the scientific workforce – a change for women and girls in science	24
Elevated murine HB-EGF confers sensitivity to diphtheria toxin in EGFR-mutant lung adenocarcinoma	24
Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish	23
Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	23
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases	23
A Drosophila model for mechanistic investigation of tau protein spread	22
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	22
Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	22
First person – Rujuta Deshpande	20
New advances in CRISPR/Cas-mediated precise gene-editing techniques	20
Immune function and dysfunction are determined by lymphoid tissue efficacy	20
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	20
First person – Eli Matsell	19
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis	19
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	19
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	19
HuR modulation counteracts lipopolysaccharide response in murine macrophages	19
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	18
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	18
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	18
RAS pathway regulation in melanoma	18
DMM Outstanding Paper Prize 2021 winner: Daniel Bronder	17
First person – Michael Koch	17
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	17
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	17
Establishment and functional studies of a model of cardiomyopathy with cardiomyocyte-specific conditional knockout of Arhgef18	17
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans	17
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	17
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	17
First person – Rebeca Piñeiro-Sabarís	17
Reducing the aneuploid cell burden – cell competition and the ribosome connection	17
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	17
Contribution of model organism phenotypes to the computational identification of human disease genes	17
First person – Saba Naghipour	16
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	16
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	16
Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	16
Epigenetic downregulation of Socs2 contributes to mutant N-Ras-mediated hematopoietic dysregulation	16
Promoting validation and cross-phylogenetic integration in model organism research	16
First person – Zongwang Zhang	16
Defining the unknowns for cell therapies in Parkinson's disease	16
Reducing the shock factor with new anti-epilepsy drugs	16
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	15

First person – Haimeng Lyu	15
A mouse model of brittle cornea syndrome caused by mutation in Zfp469	15
Exercise, programmed cell death and exhaustion of cardiomyocyte proliferation in aging zebrafish	15
Stem cell modeling of nervous system tumors	15
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	15
High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	15
Localized heterochrony integrates overgrowth potential of oncogenic clones	15
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	15
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	15
First person – Jeanne Rakotopare	14
First person – Lorena Maili	14
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy	14
First person – Matt Johansen	14
Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts	14
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	14
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases	14
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability	14
Genetically altered animal models forATP1A3-related disorders	13
Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies	13
Autophagy takes it all – autophagy inducers target immune aging	13
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	13
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	13
Supporting the evolution of infectious disease research	13
A method for TAT-Cre recombinase-mediated floxed allele modification in ex vivo tissue slices	13
A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes	13
First person – Yuka Kobayashi	13
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	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
Precise photopharmacological eradication of metastatic tumor cells	13
Preclinical evaluation of targeted therapies for central nervous system metastases	13
Current approaches and advances in the imaging of stroke	13
First person – Rebeka Popovic and Yizhou Yu	13
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	13
First person – Lídia Faria	13
What lies beyond 100 years of insulin	12
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways	12
First person – Claire Montgomery and Lili Salinas	12
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	12
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	12
Exercise suppresses mouse systemic AApoAII amyloidosis through enhancement of the p38 MAPK signaling pathway	12
First person – Li Wang	12
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	12
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	12
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	12
Transcriptional regulation of autophagy in skeletal muscle stem cells	12
First person – Toni Lemmetyinen	12
Genetic variance in human disease – modelling the future of genomic medicine	12
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult zebrafish	12
Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension	12
First person – Pavitra Prakash	11
First person – Jun-yi Zhu and Xiaohu Huang	11
Improving bench-to-bedside translation for acute graft-versus-host disease models	11
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	11
A BALB/c mouse model of Mycobacterium abscessus lung infection based on once-weekly cyclophosphamide administration	11
First person – Bernhard N. Bohnert	11
First person – Ariany Oliveira-Santos	11
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	11
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	11
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	11
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	11
First person – Jiří Funda	11
First person – Kathrin Pfeifer	11
The Mouse Models of Human Cancer database (MMHCdb)	11
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	11
eNOS in congenital to adult cardiovascular disease	11
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	10
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	10
Nonlinear progression during the occult transition establishes cancer lethality	10
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	10
First person – Casey Griffin	10
Building a healthy mouse model ecosystem to interrogate cancer biology	10
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	10
In vivoquantitative high-throughput screening for drug discovery and comparative toxicology	10
Contusions that reshape bone produce tidy conclusions	10
Mouse models of fragile X-related disorders	10
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	10
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	10
The loop-tail mouse model displays open and closed caudal neural tube defects	10
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	10
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	10

First person – Mohamadamin Forouzandehmehr	10
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	10
First person – Kaitly Woodard	10
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	10
Adult zebrafish as advanced models of human disease	10
First person – Elin Schoultz and Ellen Johansson	9
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	9
Redefining tuberculosis: an interview with Lalita Ramakrishnan	9
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	9
First person – Chang Sun	9
First person – Sarah Alghamdi	9
Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions	9
How metals fuel fungal virulence, yet promote anti-fungal immunity	9
Induction of pancreatic neoplasia in the KRAS/TP53 Oncopig	9
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	9
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	9
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	9
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome	9
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	9
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	9
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	9
First person – Nefeli Skoufou-Papoutsaki	9
First person – Sabrina Alam	9
Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain	9
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	9
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	9
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	9
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	8
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	8
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	8
The behavioural consequences of dystrophinopathy	8
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	8
Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney	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
Impactful disease research: a DMM year in review	8
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	8
Synergistic modelling of human disease	8
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	8
Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells	8
Genetically diverse mouse platform to xenograft cancer cells	8
Disease Models & Mechanisms helps move heart failure to heart success	8
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	8
First person – Jimena Monzón-Sandoval	8
A zebrafish model of diabetic nephropathy shows hyperglycemia, proteinuria and activation of the PI3K/Akt pathway	8
Embracing complexity in Drosophila cancer models	8
First person – Ilaria Gregorio	8
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	8
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	7
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	7
First person – Xuming Zhu	7
First person – Ionel Sandovici	7
Identification of two cancer stem cell-like populations in triple-negative breast cancer xenografts	7
Transcriptomic characterization of postnatal muscle maturation	7
Maximizing biomedical research impacts through bioethical considerations	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
Expanding the neuroimmune research toolkit with in vivo brain organoid technologies	7
First person – Katherine Robinson	7
Treatment of age-related visual impairment with a peptide acting on mitochondria	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
Lateral thinking in syndromic congenital cardiovascular disease	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
Deep phenotyping for precision medicine in Parkinson's disease	7
Sex hormone receptors, calcium-binding protein and Yap1 signaling regulate sex-dependent liver cell proliferation following partial hepatectomy	7
Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation	7
First person – Mark Hanson	7
First person – Amanda Miles	7
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	7
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	7
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	7
First person – Jun-yi Zhu	7
Variable body and tissue weight reporting in preclinical cachexia literature may alter study outcomes and interpretation	7
A clinically relevant model of acute respiratory distress syndrome in human-size swine	7
Smad4 restricts injury-provoked biliary proliferation and carcinogenesis	7
Defining RASopathy	7
Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments	7
First person – Anaïs Kervadec and James Kezos	7
Correction: Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	7