Disease Models & Mechanisms

Article	Citations
Let's talk about sex… obesity and melanoma	101
Pluripotent stem cell-derived neural progenitor cells can be used to model effects of IL-6 on human neurodevelopment	93
Drop the MYC: An expansion of triple-negative breast cancer driver genes	62
Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia	51
A chance to turn HIV treatment up a Notch	47
Molecular functions of ANKLE2 and its implications in human disease	45
Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas	44
Optimized methods to image hepatic lipid droplets in zebrafish larvae	44
RNA sequencing reveals molecular mechanisms of endometriosis lesion development in mice	44
Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy	41
Altered Huntingtin-Chromatin Interactions Predict Transcriptional and Epigenetic Changes in Huntington's Disease Mouse Models	41
The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice	40
Prostatic Escherichia coli infection drives CCR2-dependent recruitment of fibrocytes and collagen production	39
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture	39
Pharmacological inhibition of the acetyltransferase Tip60 mitigates myocardial infarction injury	33
Increase in brain glycogen levels ameliorates Huntington's disease phenotype and rescues neurodegeneration in Drosophila	33
Cancer cachexia: lessons from Drosophila	32
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons	32
Metabolism navigates neural cell fate in development, aging and neurodegeneration	31
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences	30
Analysis of the H-Ras mobility pattern in vivo shows cellular heterogeneity inside epidermal tissue	29
First person – Nichole Link	29
Advancing lung organoids for COVID-19 research	29
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants	27
First person – Sheeza Mughal	27

Latent TGFβ-binding proteins 1 and 3 protect the larval zebrafish outflow tract from aneurysmal dilatation	27
Validity of Xiphophorus fish as models for human disease	26
First person – Mayra Fernanda Martínez-López	26
A Drosophila model for mechanistic investigation of tau protein spread	25
The Company of Biologists: celebrating 100 years	25
Joan Heath interviews Suzanne Cory and Joan Steitz: a female perspective of science in the swinging ‘60s	24
Elevated murine HB-EGF confers sensitivity to diphtheria toxin in EGFR-mutant lung adenocarcinoma	24
The shifting culture of the scientific workforce – a change for women and girls in science	24
A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice	24
Staphylococcus aureus lipid factors modulate melanoma cell clustering and invasion	23
Xanthohumol improves cognition in farnesoid X receptor-deficient mice on a high-fat diet	23
Abnormalities in the migration of neural precursor cells in familial bipolar disorder	23
Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish	22
Notch3 deletion regulates HIV-1 gene expression and systemic inflammation to ameliorate chronic kidney disease	22
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases	22
New advances in CRISPR/Cas-mediated precise gene-editing techniques	21
Immune function and dysfunction are determined by lymphoid tissue efficacy	21
Drug-based mobilisation of mesenchymal stem/stromal cells improves cardiac function post myocardial infarction	20
Modelling quiescence exit of neural stem cells reveals a FOXG1-FOXO6 axis	19
First person – Rujuta Deshpande	19
Stress in the metastatic journey – the role of cell communication and clustering in breast cancer progression and treatment resistance	19
Reducing the aneuploid cell burden – cell competition and the ribosome connection	19
Antimicrobial peptides do not directly contribute to aging in Drosophila, but improve lifespan by preventing dysbiosis	19
First person – Eli Matsell	19
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response	18
Deficiency in hereditary hemorrhagic telangiectasia-associated Endoglin elicits hypoxia-driven heart failure in zebrafish	18
Synergic effect of atorvastatin and ambrisentan on sinusoidal and hemodynamic alterations in a rat model of NASH	18
RAS pathway regulation in melanoma	18
Effectiveness of irinotecan plus trabectedin on a desmoplastic small round cell tumor patient-derived xenograft	18
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability	18
Early manifestations and differential gene expression associated with photoreceptor degeneration in Prom1-deficient retina	18
DMM Outstanding Paper Prize 2021 winner: Daniel Bronder	17
Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome	17
Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae	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
Contribution of model organism phenotypes to the computational identification of human disease genes	16
HuR modulation counteracts lipopolysaccharide response in murine macrophages	16
Defining the unknowns for cell therapies in Parkinson's disease	16
First person – Rebeca Piñeiro-Sabarís	16
Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway	16
Correlative 3D imaging method for analysing lesion architecture in susceptible mice infected with Mycobacterium tuberculosis	16
First person – Saba Naghipour	16
First person – Michael Koch	16
First person – Zongwang Zhang	16
Activation of an actin signaling pathway in pre-malignant mammary epithelial cells by P-cadherin is essential for transformation	16
A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders	15
An ALS-associated mutation dysregulates microglia-derived extracellular microRNAs in a sex-specific manner	15
Localized heterochrony integrates overgrowth potential of oncogenic clones	15
First person – Haimeng Lyu	15

High-fat diet induces C-reactive protein secretion, promoting lung adenocarcinoma via immune microenvironment modulation	15
Promoting validation and cross-phylogenetic integration in model organism research	15
Epigenetic downregulation of Socs2 contributes to mutant N-Ras-mediated hematopoietic dysregulation	15
A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4	15
Western lifestyle as a driver of dysbiosis in colorectal cancer	15
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability	15
Reducing the shock factor with new anti-epilepsy drugs	15
Exercise, programmed cell death and exhaustion of cardiomyocyte proliferation in aging zebrafish	15
Stem cell modeling of nervous system tumors	15
Genetic regulation of injury-induced heterotopic ossification in adult zebrafish	15
Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy	14
Use of metabolic imaging to monitor heterogeneity of tumour response following therapeutic mTORC1/2 pathway inhibition	14
A mouse model of brittle cornea syndrome caused by mutation in Zfp469	14
Development of a physiologically relevant and easily scalable LUHMES cell-based model of G2019S LRRK2-driven Parkinson's disease	14
Genetically altered animal models forATP1A3-related disorders	13
First person – Lorena Maili	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
A method for TAT-Cre recombinase-mediated floxed allele modification in ex vivo tissue slices	13
First person – Jeanne Rakotopare	13
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases	13
Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts	13
Precise photopharmacological eradication of metastatic tumor cells	13
First person – Matt Johansen	13
Preclinical evaluation of targeted therapies for central nervous system metastases	13
Supporting the evolution of infectious disease research	13
First person – Lídia Faria	12
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans	12
Molecular signature of postmortem lung tissue from COVID-19 patients suggests distinct trajectories driving mortality	12
Caspase-resistant ROCK1 expression prolongs survival of Eµ-Myc B cell lymphoma mice	12
Reduced growth and biofilm formation at high temperatures contribute to Cryptococcus deneoformans dermatotropism	12
First person – Yuka Kobayashi	12
deCLUTTER2+ – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes	12
Correction: Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma	12
What lies beyond 100 years of insulin	12
Current approaches and advances in the imaging of stroke	12
First person – Rebeka Popovic and Yizhou Yu	12
Vangl2–environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension	12
Transcriptional regulation of autophagy in skeletal muscle stem cells	12
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation	12
First person – Kathrin Pfeifer	11
First person – Pavitra Prakash	11
Breaking the silos, stopping the spread: an interview with Jyoti Joshi	11
The inflammasome adaptor pycard is essential for immunity against Mycobacterium marinum infection in adult zebrafish	11
Exercise suppresses mouse systemic AApoAII amyloidosis through enhancement of the p38 MAPK signaling pathway	11
Genetic variance in human disease – modelling the future of genomic medicine	11
First person – Ariany Oliveira-Santos	11
First person – Bernhard N. Bohnert	11
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice	11
First person – Jiří Funda	11
Bisphenol-A impairs synaptic formation and function by RGS4-mediated regulation of BDNF signaling in the cerebral cortex	11
Fibroblast-derived EGF ligand neuregulin 1 induces fetal-like reprogramming of the intestinal epithelium without supporting tumorigenic growth	11
First person – Claire Montgomery and Lili Salinas	11
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways	11
First person – Jun-yi Zhu and Xiaohu Huang	11
Nonlinear progression during the occult transition establishes cancer lethality	11
NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome	11
Cell competition from development to neurodegeneration	11
Transgenic Dendra2::tau expression allows in vivo monitoring of tau proteostasis in Caenorhabditis elegans	11
First person – Li Wang	11
First person – Toni Lemmetyinen	11
Postnatal Zika virus infection leads to morphological and cellular alterations within the neurogenic niche	10
Oral administration of aripiprazole to Drosophila causes intestinal toxicity	10
Perfluorooctanesulfonic acid modulates barrier function and systemic T-cell homeostasis during intestinal inflammation	10
First person – Kaitly Woodard	10
First person – Mohamadamin Forouzandehmehr	10
Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors	10
A BALB/c mouse model of Mycobacterium abscessus lung infection based on once-weekly cyclophosphamide administration	10
Mouse models of fragile X-related disorders	10
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing	10
Building a healthy mouse model ecosystem to interrogate cancer biology	10
Craniofacial studies in chicken embryos confirm the pathogenicity of human FZD2 variants associated with Robinow syndrome	10
First person – Casey Griffin	10
Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency	10
Functional distinction in oncogenic Ras variant activity in Caenorhabditis elegans	10
eNOS in congenital to adult cardiovascular disease	10
The Mouse Models of Human Cancer database (MMHCdb)	10
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice	10
Improving bench-to-bedside translation for acute graft-versus-host disease models	10
Patient advocacy in tuberculosis research and treatment: an interview with Zolelwa Sifumba	10

Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion	10
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy	10
Transcriptomic analyses of gastrulation-stage mouse embryos with differential susceptibility to alcohol	10
An arginase 2 promoter transgenic line illuminates immune cell polarisation in zebrafish	9
Piglet cardiopulmonary bypass induces intestinal dysbiosis and barrier dysfunction associated with systemic inflammation	9
Adult zebrafish as advanced models of human disease	9
How metals fuel fungal virulence, yet promote anti-fungal immunity	9
TDP-43 promotes tau accumulation and selective neurotoxicity in bigenic Caenorhabditis elegans	9
First person – Elin Schoultz and Ellen Johansson	9
Induction of pancreatic neoplasia in the KRAS/TP53 Oncopig	9
Development of the aganglionic colon following surgical rescue in a cell therapy model of Hirschsprung disease in rat	9
The loop-tail mouse model displays open and closed caudal neural tube defects	9
RASopathies – what they reveal about RAS/MAPK signaling in skeletal muscle development	9
First person – Sabrina Alam	9
A systematic review of kidney-on-a-chip-based models to study human renal (patho-)physiology	9
First person – Sarah Alghamdi	9
Modeling Spitz melanoma in zebrafish using sequential mutagenesis	9
In vivoquantitative high-throughput screening for drug discovery and comparative toxicology	9
Contusions that reshape bone produce tidy conclusions	9
An enriched environment re-establishes metabolic homeostasis by reducing obesity-induced inflammation	9
Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions	9
First person – Nefeli Skoufou-Papoutsaki	9
Development and characterization of an animal model of Japanese encephalitis virus infection in adolescent C57BL/6 mouse	9
A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flow	8
First person – Melissa Hinman	8
Patient-associated mutations in Drosophila Alk perturb neuronal differentiation and promote survival	8
Activated PI3K delta syndrome 1 mutations cause neutrophilia in zebrafish larvae	8
Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death	8
Purkinje cell dysfunction causes disrupted sleep in ataxic mice	8
First person – Chang Sun	8
Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice	8
Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy	8
Disease Models & Mechanisms helps move heart failure to heart success	8
Embracing complexity in Drosophila cancer models	8
Transforming growth factor β3 deficiency promotes defective lipid metabolism and fibrosis in murine kidney	8
Biofidelic dynamic compression of human cortical spheroids reproduces neurotrauma phenotypes	8
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency	8
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome	8
Stromal matrix directs corneal fibroblasts to re-express keratocan after injury and transplantation	8
Genetically diverse mouse platform to xenograft cancer cells	8
First person – Ilaria Gregorio	8
Impactful disease research: a DMM year in review	8
Dual mechanism underlying failure of neural tube closure in the Zic2 mutant mouse	8
Redefining tuberculosis: an interview with Lalita Ramakrishnan	8
Glucocorticoid receptor regulates protein chaperone, circadian clock and affective disorder genes in the zebrafish brain	8
DMM Outstanding Paper Prize 2022 winners: Tamihiro Kamata, Jennifer K. Sargent and Mark A. Warner	8
Cross-species modeling of muscular dystrophy in Caenorhabditis elegans using patient-derived extracellular vesicles	8
MAB21L1 modulates gene expression and DNA metabolic processes in the lens placode	7
Synergistic modelling of human disease	7
First person – Katherine Robinson	7
CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease	7
First person – Jun-yi Zhu	7
First person – Ionel Sandovici	7
First person – Xuming Zhu	7
Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2	7
Expanding the neuroimmune research toolkit with in vivo brain organoid technologies	7
The behavioural consequences of dystrophinopathy	7
Sox11 regulates mammary tumour-initiating and metastatic capacity in Brca1-deficient mouse mammary tumour cells	7
A zebrafish model of diabetic nephropathy shows hyperglycemia, proteinuria and activation of the PI3K/Akt pathway	7
Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments	7
Lateral thinking in syndromic congenital cardiovascular disease	7
First person – Lauren Falkenberg	7
First person – Amanda Miles	7
Cdk8 attenuates lipogenesis by inhibiting SREBP-dependent transcription in Drosophila	7
Treatment of age-related visual impairment with a peptide acting on mitochondria	7
Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila	7
First person – Jimena Monzón-Sandoval	7
Innovating spinal muscular atrophy models in the therapeutic era	7
First person – Mark Hanson	7
The Michael J. Fox Foundation's quest for a cure for Parkinson's disease: an interview with Nicole Polinski	7
Variable body and tissue weight reporting in preclinical cachexia literature may alter study outcomes and interpretation	7
First person – Anaïs Kervadec and James Kezos	7
Correction: Inhibition of activin A receptor signalling attenuates age-related pathological cardiac remodelling	7
Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration	7
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk	7
Evaluating protein prenylation of human and viral CaaX sequences using a humanized yeast system	7