Academic Articles & Research Papers

Generation Scotland: Linking all the records we can

Objectives We started a family-based genetic epidemiology study in 2006-11 which recruited ~24,000 adult volunteers from ~7000 families across Scotland with consent for follow-up through medical record linkage and re-contact. In 2022-23 we ...

CpG site- and methylation level-dependent measurement variability across three bisulfite-based DNA methylation assays.

Protocol to identify DNA methylation-sensitive enhancer sites.

Sex-biased DNA methylation in small hive beetles (Aethina tumida).

Population epigenomics of plant DNA methylation: perspectives for molecular breeding.

Genetics of MDS

Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related myeloid disorders has been dramatically improved during the past decade, in which revolutionized sequencing technologies have played a major role. Through inten...

Epigenetic Age Acceleration and Hearing: Observations From the Baltimore Longitudinal Study of Aging

Objectives: Age-related hearing loss (ARHL) is highly prevalent among older adults, but the potential mechanisms and predictive markers for ARHL are lacking. Epigenetic age acceleration has been shown to be predictive of many age-associated...

Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors

DNA methylation plays an important role in silencing transposable elements. Here the authors find that loss of DNMT1 and DNA methylation leads to transcriptional activation and chromatin remodelling of evolutionarily young—hominoid-specific...

Hamartin: An Endogenous Neuroprotective Molecule Induced by Hypoxic Preconditioning

Hypoxic/ischemic preconditioning (HPC/IPC) is an innate neuroprotective mechanism in which a number of endogenous molecules are known to be involved. Tuberous sclerosis complex 1 (TSC1), also known as hamartin, is thought to be one such mol...

Molecular pathogenesis: Connections between viral hepatitis-induced and non-alcoholic steatohepatitis-induced hepatocellular carcinoma

Hepatocellular carcinoma(HCC) is the sixth most common cancer in the world and is usually caused by viral hepatitis (HBV and HCV), alcoholic, and non-alcoholic fatty liver disease(NAFLD). Viral hepatitis accounts for 80% of HCC cases worldw...

Current Evidence on Gene-Based and Epigenetic Therapeutic, Diagnostic, and Prognostic Strategies in Epithelial-Derived Carcinomas: A Scoping Review

Background: Epithelial-derived carcinomas exhibit genomic instability due to genetic mutation and epigenetic dysregulation. Mechanisms such as DNA methylation, histone modifications, and noncoding RNA regulation may lead to tumor progressio...

CDC25A inhibition sensitizes melanoma cells to doxorubicin and NK cell therapy

Abstract Cell division cycle 25 (CDC25) phosphatases serve as crucial regulators of cell cycle phase transitions and essential components of the checkpoint machinery involved in DNA damage response. Emerging evidence indicates the oncogenic...

Integrated methylome and transcriptome analysis provides insight into DNA methylation-mediated networks in sexual dimorphism of Vernicia montana

Abstract Background Sexual dimorphism is fundamental to reproduction in dioecious plants and is regulated by both genetic and epigenetic mechanisms. DNA methylation is a central epigenetic mark known to influence phenotypic variation in pla...

Epigenetic Mechanisms and Nephrotic Syndrome: A Systematic Review

A small subset of people with nephrotic syndrome (NS) have genetically driven disease. However, the disease mechanisms for the remaining majority are unknown. Epigenetic marks are reversible but stable regulators of gene expression with uti...

Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome

Abstract Background Hutchinson-Gilford progeria syndrome (HGPS) is a progeroid disease characterized by the early onset of age-related phenotypes including arthritis, loss of body fat and hair, and atherosclerosis. Cells from affected indiv...

DNA methylation patterns of circadian and ultradian genes are altered in the peripheral blood of patients with hidradenitis suppurativa

BackgroundHidradenitis suppurativa (HS) is a chronic inflammatory skin condition that affects hair follicles in areas with apocrine sweat glands, such as the underarms, groin, and buttocks. The pathogenesis of HS is not fully understood, bu...

A multi-organization epigenetic age prediction based on a channel attention perceptron networks

DNA methylation indicates the individual’s aging, so-called Epigenetic clocks, which will improve the research and diagnosis of aging diseases by investigating the correlation between methylation loci and human aging. Although this discover...