'; ?> geneimprint : Hot off the Press http://www.geneimprint.com/site/hot-off-the-press Daily listing of the most recent articles in epigenetics and imprinting, collected from the PubMed database. en-us Sat, 16 May 2026 12:37:20 EDT Sat, 16 May 2026 12:37:20 EDT jirtle@radonc.duke.edu james001@jirtle.com Epigenetic remodeling induced by fatty acids: Chromatin modifications and cellular senescence during lipid overload. Ávila-Galicia KE, Alarcón-Aguilar A, Soto-Reyes E, Königsberg M
Ageing Res Rev (Jun 2026)

Cellular senescence is a stable cell state sustained by specific gene expression programs that are established and maintained through dynamic changes in chromatin organization. Importantly, these programs are highly dependent on the nature of the senescence-inducing stimulus. In recent years, lipid overload has emerged as a relevant metabolic stress capable of inducing senescence across multiple cell types and tissues, particularly in the context of obesity and high-fat diets. Accumulating evidence indicates that this process is tightly linked to metabolic rewiring, which directly impacts chromatin-modifying enzymes and chromatin remodelers through fluctuations in key metabolites such as acetyl-CoA, NAD⁺, and α-ketoglutarate. In this review, we integrate current evidence on how fatty acid-driven metabolic alterations reshape chromatin dynamics to promote and stabilize cellular senescence.]]> Wed, 31 Dec 1969 19:00:00 EST FINE-EM-seq: a rapid isothermal amplification method enabling comprehensive methylome profiling of zebrafish early embryos. Ding C, Zhang Q, Wang J, Xu Y, Huang T, Du Y, Zhang J, Zhou X, Liu Y, Hu Z
Cell Insight (Jun 2026)

DNA methylation plays a crucial role in development and disease. Bisulfite-free methods such as enzymatic methyl sequencing (EM-seq) offer gentle approaches for whole-genome analysis, but they typically depend on PCR-based library amplification, which distorts coverage and methylation quantification. Here, we introduce FINE (Fast Isothermal amplification via Nicking Enzyme), a robust isothermal amplification strategy that leverages a nicking enzyme-assisted strand displacement reaction and can amplify methylation libraries from sub-nanogram inputs in 20 min. FINE-EM-seq increases library efficiency and coverage uniformity compared to PCR-based approaches, minimizing amplification bias and improving methylation calling accuracy. Applied to zebrafish embryos at four early developmental stages, FINE-EM-seq characterized stage-associated methylation dynamics through blastulation and early gastrulation. Furthermore, our analysis revealed blastulation-associated differentially methylated regions (DMRs) overlapping with AT-rich regions that were previously under-covered. These results illustrate that FINE-EM-seq is a rapid, robust solution for low-input whole-genome methylation sequencing with broad utility in developmental biology and clinical epigenomics.]]> Wed, 31 Dec 1969 19:00:00 EST Interactions between nutrition and the epigenome: how can it be harnessed for public health? Anastasopoulou M, Dereki I, Sgourou A, Lagoumintzis G
Future Sci OA (Dec 2026)

A substantial body of evidence shows that dietary habits influence gene expression and epigenetic processes, holding significant implications for public health policies. Epigenetic modifications are increasingly associated with metabolic state, disease risk, and biological aging. Translating mechanistic results into scalable, efficient nutritional epigenetics treatments is difficult.]]> Wed, 31 Dec 1969 19:00:00 EST Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review. Porras LM, Rodríguez-Lausell I, Iglesias-Maldonado G, Tuliao EVF, Martínez G, Leveque C, Tobon J, Eloy R, Belangero S, Bulik CM, Loureiro CM, Carvalho CM, Ota V, Rovaris DL, Storch EA, Vacuan EMT, Velasquez MM,  , Santoro ML, Nicolini H, Atkinson EG, Montalvo-Ortiz JL, Giusti-Rodríguez P
Am J Med Genet B Neuropsychiatr Genet (Jun 2026)

Over the past 15 years, genetic studies of psychiatric disorders have provided important insight into the contribution of both common variants of small effect, as well as rare exonic and copy number variants with large effect sizes. Genome-wide association studies (GWAS) allow us to understand the intricate polygenicity characteristic of many psychiatric disorders. However, a considerable proportion of single nucleotide polymorphisms (SNPs) implicated in these disorders localize to the non-coding regions of the genome. Unraveling the molecular mechanisms that underlie the etiology of psychiatric illnesses requires integration using functional genomics approaches. Functional genomics methods are critical for developing a mechanistic understanding of genetic findings in psychiatric disorders. Unfortunately, most studies on psychiatric genetics have focused on individuals of European ancestry, which limits our understanding to only a portion of the population. This further contributes to the underrepresentation of other groups, including individuals from Latin America, in genomic studies and restricts our biological insight into these disorders in these populations. To address this issue, we performed an advanced scoping review to ascertain the landscape of functional genomics psychiatric research in Latin American populations. After analyzing over 1380 papers using our search terms, 52 original papers were identified considering individuals of Latin American origin in psychiatric functional genomics research. The majority of these focused on schizophrenia (N = 7), bipolar disorder (N = 7), or a combination of various disorders encompassed in one study (N = 6). DNA methylation techniques were predominant (73%), followed by gene expression (17%) and other techniques. Most samples were from Brazilian (55.8%) or Mexican (21.2%) participants, followed by "Hispanic" (15.3%), Colombian (5.8%), and Costa Rican (1.9%). Although new psychiatric and functional genomics research, including work from the Latin American Genomics Consortium, is expanding our understanding of the genetic basis of these disorders, significant gaps remain. Increasing the representation of samples from admixed and diverse ancestral backgrounds-such as Latin Americans-in future functional genomics studies is greatly needed. This will broaden the applicability of emerging research to a more diverse population and improve the potential impact of psychiatric genetics research on future precision medicine applications.]]> Wed, 31 Dec 1969 19:00:00 EST Melatonin-enabled omics: understanding plant responses to single and combined abiotic stresses for climate-smart agriculture. Raza A, Li Y, Charagh S, Guo C, Zhao M, Hu Z
GM Crops Food (Dec 2026)

Climate change-driven single and combined abiotic stresses pose escalating threats to sustainable, climate-smart agriculture and global food security. Melatonin (MLT, a powerful plant biostimulant) has established noteworthy potential in improving stress tolerance by regulating diverse physiological, biochemical, and molecular responses. Therefore, this review delivers a comprehensive synopsis of MLT-enabled omics responses across genomics, transcriptomics, proteomics, metabolomics, miRNAomics, epigenomics, phenomics, ionomics, and microbiomics levels that collectively regulate plant adaptation to multiple abiotic stresses. We also highlight the crosstalk between these omics layers and the power of integrated multi-omics (panomics) approaches to harness the complex regulatory networks underlying MLT-enabled stress tolerance. Lastly, we argue for translating these omics insights into actionable strategies through advanced genetic engineering and synthetic biology platforms to develop MLT-enabled, stress-smart crop plants.]]> Wed, 31 Dec 1969 19:00:00 EST T-ChroNet: Time-aware chromatin network reconstruction to detect dynamic regulatory programs in longitudinal epigenetic dataset. Di Giovenale S, Lischio O, Cortile C, Corleone G, Fanciulli M, Bonchi F, Barozzi I
NAR Genom Bioinform (Jun 2026)

Networks are widely applied to investigate relationships among individual components of complex biological systems. Recent application of biological networks, such as gene co-expression networks and gene regulatory networks, has been instrumental to define principles of transcriptional modulation in development and disease. However, computational methods that can embed the activity of -regulatory elements (CRE) into a network are still limited. Capturing temporal CRE activity within a network could help reveal regulatory programs involved in cell fate commitment and disease development. To address this, we present T-ChroNet (Time-aware Chromatin Network), a network-based method that models CRE as nodes and their temporal co-accessibility as edges. Through the detection of CRE sharing similar accessibility patterns over time, T-ChroNet allows the inference of putative upstream regulators and downstream biological pathways. We applied T-ChroNet to temporally-resolved CRE datasets, from both human and mouse, including chromatin accessibility (ATAC-seq) and histone post-translational modifications (H3K27ac ChIP-seq). T-ChroNet successfully recovered known regulators and enriched pathways for both modalities and species, while also uncovering novel putative factors and mechanisms regulating cell identity, organ development and disease progression.]]> Wed, 31 Dec 1969 19:00:00 EST A cell type enrichment analysis tool for brain DNA methylation data (CEAM). Müller J, Laroche VT, Imm J, Weymouth L, Harvey J, Reijnders RA, Smith AR, van den Hove D, Lunnon K, Cavill R, Pishva E
Epigenetics (Dec 2026)

DNA methylation (DNAm) signatures are highly cell type-specific, yet most epigenome-wide association studies (EWAS) are performed on bulk tissue, potentially obscuring critical cell type-specific patterns. Existing computational tools for detecting cell type-specific DNAm changes are often limited by the accuracy of cell type deconvolution algorithms. Here, we introduce CEAM (Cell-type Enrichment Analysis for Methylation), a robust and interpretable framework for cell type enrichment analysis in DNA methylation data. CEAM applies over-representation analysis with cell type-specific CpG panels from Illumina EPIC arrays derived from nuclei-sorted cortical post-mortem brains from neurologically healthy aged individuals. The constructed CpG panels were systematically evaluated using both simulated datasets and published EWAS results from Alzheimer's disease, Lewy body disease, and multiple sclerosis. CEAM demonstrated resilience to shifts in cell type composition, a common confounder in EWAS, and remained robust across a wide range of differentially methylated positions, when upstream modeling of cell type composition was modeled with sufficient accuracy. Application to existing EWAS findings generated in neurodegenerative diseases revealed enrichment patterns concordant with established disease biology, confirming CEAM's biological relevance. The workflow is publicly available as an interactive Shiny app (https://um-dementia-systems-biology.shinyapps.io/CEAM/) enabling rapid, interpretable analysis of cell type-specific DNAm changes from bulk EWAS.]]> Wed, 31 Dec 1969 19:00:00 EST Long noncoding RNA H19 in liver development and disease. Montoya-Durango DE, Gobejishvili L
Cell Signal (Jun 2026)

Liver disease is a global health problem responsible for more than two million deaths annually. Metabolic dysfunction-associated steatotic liver disease (MASLD) and alcohol-associated liver disease (ALD) are major contributors to chronic liver disease-related morbidity and mortality. Factors like diet and alcohol consumption have become key drivers of liver pathologies including steatosis, fibrosis/cirrhosis, and hepatocellular carcinoma. To date very few treatments are available, hence there is a critical need for the development of novel therapies to slow down the development/progression of liver damage. The long non-coding RNA H19 gene, H19, is an imprinted gene normally expressed from the maternally inherited chromosome and epigenetically silenced in the paternal chromosome. At the embryo stage H19 controls genome-wide methylation, directs the methylation of the imprinted gene network, and regulates organ size. In the livers of neonates, H19 is important for organ maturation but remains silent in the mature organ. H19 re-expression in the adult liver drives de novo lipogenesis and fibrosis and maintains a proliferative state in tumor cells. The complexity of H19 functions in the liver is reflected in its interaction and regulation of a growing number of proteins, and coding and non-coding RNAs involved in metabolism, pro-fibrotic gene networks, cell cycle progression, and chromatin regulation. This review summarizes the findings related to the role of H19 in liver development and in diseases such as fatty liver, fibrosis, and hepatocellular carcinoma.]]> Wed, 31 Dec 1969 19:00:00 EST Cholangiocyte biology in primary sclerosing cholangitis and other cholangiopathies: pathogenesis, clinical insights, and experimental tools. Jalan-Sakrikar N, Anwar AA, Ali A, Nasser-Ghodsi N, Felzen A, Huebert RC, LaRusso NF, O'Hara SP
Physiol Rev (Jul 2026)

Cholangiocytes are specialized epithelial cells that line the intrahepatic and extrahepatic biliary tree and play a critical role in bile modification, liver homeostasis, and response to injury. Cholangiocytes exhibit notable heterogeneity and plasticity, and their dysfunction is central to a spectrum of diseases targeting the bile ducts, collectively called cholangiopathies. These disorders include genetic, infectious, immune-mediated, and malignant diseases, with primary sclerosing cholangitis (PSC) representing one of the most complex and enigmatic of these disorders. PSC is a progressive, fibro-inflammatory disease of the bile ducts that is closely linked to inflammatory bowel disease, carries a heightened risk of cancer, and lacks any approved therapies. This review explores the biology of cholangiocytes, including their development, functional plasticity, and roles in secretion, absorption, and cellular signaling. We provide a detailed examination of cholangiopathies, particularly PSC, a complex cholangiopathy characterized by a paradoxical state of cholangiocyte senescence and hyperproliferation. We describe how immune cell dysfunction, the gut microbiome, genetic predispositions, and environmental factors converge to mediate PSC pathogenesis. We revisit the foundational technologies that empowered early discoveries and shaped the field as we know it today. We also explore how newer techniques such as organoid cultures, single-cell transcriptomics, epigenomics, and spatialomics have transformed our modern understanding of biliary pathophysiology. Finally, we provide an overview of existing rodent models of cholangiopathies and discuss their relevance to human disease. PSC remains therapeutically unaddressed, and thus ongoing multidisciplinary efforts are essential to developing targeted interventions. This review serves as a comprehensive resource for researchers and clinicians navigating the rapidly evolving landscape of cholangiocyte-centered liver disease research.]]> Wed, 31 Dec 1969 19:00:00 EST Global analyses of genomic and epigenomic influences on gene expression reveal as a major regulator of cardiac gene expression in response to catecholamine challenge during heart failure. Lahue C, Ravindran S, Dalal A, Avetisyan R, Rau CD
Epigenetics (Dec 2026)

Heart failure arises from maladaptive remodelling driven by genetic and epigenetic networks. Using a systems genetics framework, we mapped how DNA variants and CpG methylation shape cardiac transcriptomes during beta adrenergic stress in the Hybrid Mouse Diversity Panel, a cohort of over 100 fully inbred mouse strains. Expression QTLs (eQTLs), methylation QTLs (mQTLs) and methylation-driven eQTLs (emQTLs) were generated from over 13k expressed genes and 200k hypervariable CpGs in left ventricles. We discovered hundreds of regulatory 'hotspots' that control large portions of the genome, including several that regulate over 10% of the transcriptome and/or methylome. Approximately 16% of these hotspots overlapped with prior GWAS or EWAS signals. We focus on a hotspot on chromosome 12 and identify the serpine peptidase inhibitor , as the most likely driver gene in this hotspot. Experimental knockdown of in neonatal rat ventricular cardiomyocytes blunted hypertrophy induced by a variety of hypertrophic signals, while altering predicted target expression and modulating the activity of and . Together, these findings position as a major regulator of stress-responsive cardiac gene programs, highlighting how integration of genetic and epigenetic signals can pinpoint key drivers of heart failure.]]> Wed, 31 Dec 1969 19:00:00 EST The transformative role of single-cell analysis in multifactorial disorders research. Wang CY, Ko CC, Kumar S, Xuan DTM, Lin HR, Lee YK, Nguyen NUN, Yang PM, Solomon DD
Methods (Jul 2026)

Multifactorial inherited disorders (MIDs) arise from complex interactions between polygenic risk and environmental exposures, presenting major challenges for mechanistic discovery, patient stratification, and targeted therapy development. While traditional approaches like genome-wide association studies (GWAS) and bulk omics profiling have identified broad associations, they often struggle to resolve the cellular context in which these interactions drive pathogenesis.Emergingsingle-cell technologies now offer unprecedented resolution to dissect tissue heterogeneity, define rare or transient disease-relevant cell states, and map dynamic trajectories across tissues and disease stages. This reviewprovides a comprehensive synthesis ofcurrent single-cell methodologies including transcriptomic, epigenomic, proteomic, and spatial techniques and their application to MID research. We explore how these toolsare revealingcell-type-specific regulatory circuits,contextualizingthe functional impact of inherited risk variants, andelucidatingcellular responses to environmental perturbations.We propose thatintegrating single-cell multi-omics data is critical for illuminating the mechanistic basis of complex traits and for advancing biomarker discovery. However, significant challenges remain, including technical variability, limited cohort scalability, difficulties in multi-modal data integration, and a lack of standardized analytical workflows for polygenic diseases. Overcoming these barriers will require harmonized study designs, robust computational frameworks, and the incorporation of longitudinal and environmental exposure data.Ultimately, we conclude thatsingle-cell analysis is poised to transform MID research, offering a powerful new paradigm for mechanistic insight, therapeutic innovation, and the realization of precision medicine.]]> Wed, 31 Dec 1969 19:00:00 EST Multi-omics reveals molecular signatures of moderate intensity exercise and identifies candidate exercise mimetics in mice. Jiang H, Inoue S, Hatakeyama J, Moriyama H
Redox Biol (Jun 2026)

Exercise is known to promote systemic health and prevent various chronic diseases. However, the molecular mechanisms underlying its beneficial effects remain incompletely understood. Although the health benefits of exercise have been widely studied, most research has treated exercise as a general intervention, without clearly standardizing its intensity. This study focused on a physiologically and molecularly defined moderate intensity, which may uniquely capture the core health-promoting mechanisms of exercise. To characterize the molecularly defined moderate intensity exercise, integrative multi-omics analyses-including transcriptomics, epigenomics, and phosphoproteomics-were performed using skeletal muscle tissue. These analyses revealed that this specifically defined exercise consistently modulated shared molecular pathways across both exercise modalities, especially insulin signaling, FoxO signaling, and circadian rhythm regulation. To explore the translational relevance of the identified molecular signatures, Connectivity Map analysis was used to search for compounds with similar transcriptional profiles. As a secondary outcome, apigenin and doxazosin were found to mimic exercise-associated molecular responses partially. These compounds exerted distinct physiological effects in vivo, including enhanced mitochondrial function and endurance and muscle hypertrophy with musculoskeletal protection. In conclusion, this study primarily elucidates the systemic molecular basis of physiologically and molecularly defined moderate-intensity exercise. The identification of candidate exercise mimetics serves as a potential application of these findings.]]> Wed, 31 Dec 1969 19:00:00 EST TiSMeD: A tissue-specific methylation and expression database for biomarker and translational applications. Cheng J, Lin Z, Wu L, Li Q, Yin H, Wang H, Chen H, Chen X, Ji ZL
Mol Ther Nucleic Acids (Jun 2026)

Tissue-specific methylation sites (TSMs) are important epigenetic features associated with gene regulation, tissue development, and disease pathogenesis. However, the lack of comprehensive and reliable resources for TSMs restricts advancements in epigenetic and translational research. We present TiSMeD (http://www.bio-add.org/TiSMeD/), a multi-omics database integrating 6,782 DNA methylation, 16,894 transcriptome, and 241 proteome profiles across 48 normal human tissues. Using a scoring framework based on SPM and Tscore, we identified 67,427 high-confidence TSMs, 4,607 tissue-specific genes, and 2,833 tissue-specific proteins, along with over 11 million housekeeping methylation sites. TiSMeD enables interactive exploration and data retrieval, supporting biomarker discovery and disease research. We demonstrate its utility in tracing the tissue-of-origin of cell-free DNA (cfDNA), prioritizing 1,849 cancer biomarkers from The Cancer Genome Atlas (TCGA), and constructing a multi-cancer tracing and diagnostic model achieving 95.7% accuracy. TiSMeD serves as a robust, user-friendly platform integrating multi-omics data to advance epigenetic research and biomarker translation.]]> Wed, 31 Dec 1969 19:00:00 EST H19 lncRNA in programming prenatal development and DOHaD due to maternal obesity. Islam S, Du M
Life Sci (Jun 2026)

Maternal obesity is a major global health challenge worldwide, significantly increasing the risk of pregnancy complications and long-term metabolic disorders in offspring. Maternal obesity, including associated gestational diabetes, induces epigenetic modifications that can reprogram fetal development and predispose children to lifelong health issues. Long non-coding RNA (lncRNA) H19, one of the first and most extensively studied lncRNAs, plays a pivotal role in developmental programming by regulating gene imprinting, microRNA processing, protein stabilization, and signaling pathways critical for growth and metabolism. Dysregulation of H19 expression under maternal obesity alters the H19/Igf2 (insulin-like growth factor 2) imprinting axis, disrupts skeletal muscle development, and modifies osteogenic and neurogenic pathways, thereby contributing to systemic insulin resistance, metabolic dysfunction, and neuro-disorder in offspring. This review highlights how maternal obesity reprograms offspring health through H19-mediated epigenetic and post-transcriptional regulation, emphasizing its role in the developmental origins of health and disease framework. Understanding the role of H19 offers valuable opportunities to develop targeted interventions that may reduce the transgenerational effects of obesity.]]> Wed, 31 Dec 1969 19:00:00 EST Arsenic exposure at birth, socioeconomic status, and epigenetic aging among adults in northern Chile. Kwon D, Bozack AK, Ferreccio C, McCormick N, Steinmaus CM, de la Rosa R, Cardenas A
Environ Res (Jun 2026)

Arsenic exposure remains a major global health concern, and early-life exposure has been linked to cancer, cardiovascular disease, and diabetes. Epigenetic biomarkers of aging may capture long-term effects of arsenic, yet whether exposure during sensitive developmental windows leaves detectable epigenetic signatures decades later remains unclear. Socioeconomic status (SES) may modify these relationships, yet its role as a modifier has not been examined.]]> Wed, 31 Dec 1969 19:00:00 EST Oligodendrocyte dysfunction in alzheimer's disease: Integrating spatial epigenomics and metabolic circuitry in demyelination - A critical review. Jian L, Liu Y, Peng W
Ageing Res Rev (Jun 2026)

Traditional Alzheimer's disease (AD) research has predominantly focused on neuronal pathology within the amyloid-tau-neurodegeneration (ATN) framework, emphasizing β-amyloid (Aβ) plaques, neurofibrillary tangles (NFTS), and neuroinflammation as primary drivers of disease progression. Recently, converging evidence suggests that oligodendrocytes (OLs) and myelin abnormalities are not merely downstream consequences of neuronal injury. Instead, OL dysfunction may emerge early and actively shape disease trajectories. In this critical review, we synthesize findings from spatial epigenomics, metabolic circuitry analysis, single-nucleus RNA sequencing (snRNA-seq), and multimodal neuroimaging to reassess the OLs contributions to AD pathophysiology. We further summarizetherapeutic strategies that target OL dysfunction, including metabolic rescue approaches, epigenetic modulation, remyelination-oriented interventions, and approaches that suppress OL-derived Aβ. Overall, we propose an "OL epigenetic-metabolic axis" as an underappreciated pathological hub in AD. This framework challengesthe conventional victim-perpetrator narrative by repositioning OLs from passive casualties to context-dependent drivers and amplifiers of neurodegeneration. By clarifying how spatially patterned epigenetic dysregulation intersects with metabolic collapse to impair myelin integrity and axonal support, this review provides a rationale for developing innovative neuroprotective strategies aimed at OL repair, remyelination, and metabolic restoration.]]> Wed, 31 Dec 1969 19:00:00 EST Beyond chromatin accessibility: bulk ATAC-seq as an integrative assay to portray genomes and epigenomes. Toumi I, Kham C, Stuani L, Le Cam L, Roux PF
NAR Genom Bioinform (Jun 2026)

Assay for transposase-accessible chromatin using sequencing (ATAC-seq) is a cornerstone for epigenomic profiling, yet its potential for genomic characterization remains poorly explored. Here, we systematically benchmarked bulk ATAC-seq against whole-genome sequencing (WGS) to assess its capacity for detecting small variants, copy number variations (CNVs), telomere-associated repeat content, and mitochondrial single-nucleotide polymorphisms in cancer cells. Using paired datasets from patient-derived melanoma cell lines and from TCGA primary brain tumors, we demonstrated that ATAC-seq achieves high precision in small variants detection within accessible regions supporting cohort-scale genotyping and genetic stratification, robustly resolves CNVs in the nuclear genome, and supports high-coverage mitogenome profiling, with strong concordance to WGS at standard sequencing depths. Notably, we present the first systematic evaluation of telomere-associated repeat content by ATAC-seq, revealing its untapped potential for studying genome stability. By bridging genomic and epigenomic insights into a single genome-wide approach, bulk ATAC-seq emerges as a cost-effective and versatile tool poised to transform cancer research and to support integrative molecular profiling in clinical settings.]]> Wed, 31 Dec 1969 19:00:00 EST Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation. Licata AM, Botzenhart E, Kloth-Stachnau K, Eggermann T
Clin Genet (Jun 2026)

Copy number variations (CNVs) affecting the imprinted regions in 11p15.5 (imprinting centre 1 and 2/IC1, IC2) account for more than 2% of the molecular disturbances in Beckwith-Wiedemann and Silver-Russell syndrome (BWS, SRS) and are associated with a recurrence probability of up to 50%. However, their clinical impact can be challenging to estimate, as it depends on the type of imbalance, the parental origin of the affected allele, its size and genomic content. As a result, a genotype-phenotype correlation of 11p15.5 alterations is still missing, at least for CNVs affecting only parts of the IC1 or IC2. By comprehensively summarising all published CNVs within 11p15.5 and the available clinical data of their carriers, we aim to further delineate a correlation of these disturbances with BWS and SRS features. In fact, consistent correlations could be delineated only for duplications including either both the telomeric and centromeric regions or complete gains of one of them. In contrast, CNVs encompassing only parts of these regions lead to heterogeneous phenotypes. In summary, our literature review provides support for pathogenicity assessment of CNVs in 11p15.5 as basis for genetic counselling. However, this dataset underlines the need for further research to enlighten the molecular complexity of this region and to better understand the regulation of genomic imprinting mechanisms in 11p15.5.]]> Wed, 31 Dec 1969 19:00:00 EST Identification of Foxm1 as a critical regulator for metabolic dysfunction-associated steatotic liver disease by epigenomic and transcriptional profiling. Zeng C, Wei M, Li H, Niu F, Guo Z, Li LY, Wu M, Chen MK
Cell Insight (Jun 2026)

Epigenetic regulation has emerged as a key mechanism in metabolic dysfunction-associated steatotic liver disease (MASLD). However, the systematic epigenomic profiling for MASLD progression is still lacking. To investigate the epigenetic mechanisms regulating MASLD, this study performed chromatin immunoprecipitation sequencing (ChIP-Seq) for H3K27ac, H3K4me1, H3K4me3, H3K9me3, and H3K27me3, along with transcriptomic profiling, using liver tissues from multiple stages of a Gubra-Amylin NASH (GAN) diet-induced mouse model. Transcriptomic analysis defined the 8- and 16-week time points as the inflammation stage, and the 20- and 24-week as the fibrosis stage. Chromatin state analysis revealed that enhancer and polycomb regions increase during MASLD progression. Differential enhancers were defined based on H3K27ac peaks, and Foxm1 was identified as a key transcription factor involved in MASLD. and experiments demonstrate that lipid droplets accumulate in -knockdown liver cells. Further studies indicate Foxm1 represses MASLD progression by regulating key genes involved in lipid storage and cholesterol homeostasis. Taken together, our work has provided important datasets and identified Foxm1 as a repressive transcription factor for MASLD progression.]]> Wed, 31 Dec 1969 19:00:00 EST Microglia in human models of development and disease: are we prioritising model 'success' over biological truth? Barresi M, Ravi Prasad R, Quigley A, Gressens P, Tolcos M, Fleiss B
Neuroscience (May 2026)

MeSH terms: Microglia/growth & development; Induced Pluripotent Stem Cells /differentiation; Organoids/physiology; Epigenomics; Cell Lineage.]]> Wed, 31 Dec 1969 19:00:00 EST