AI Article Synopsis
Article Abstract
In the past few years, there has been a nascent convergence of scientific understanding of inherited human diseases with epigenetics. Identified epigenetic processes involved in human disease include covalent DNA modifications, covalent histone modifications, and histone relocation. Each of these processes influences chromatin structure and thereby regulates gene expression and DNA methylation, replication, recombination, and repair. The importance of these processes for nearly all aspects of normal growth and development is illustrated by the array of multi-system disorders and neoplasias caused by their dysregulation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0959-437x(03)00054-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The Kidney Health Score: A Practical Guide to Early Detection of Kidney Disease Risk for Optimal Kidney Health.
Nephrol Nurs J
January 2025
Professor of Medicine, Department of Internal Medicine, Division of Nephrology, School of Medicine, Virginia Commonwealth University.
Chronic kidney disease (CKD) affects 10% of the global population, with increasing prevalence driven by diabetes, hypertension, and aging populations. CKD often progresses asymptomatically, frequently undetected until advanced stages, and may require costly treatments, such as dialysis or transplantation. CKD imposes a substantial financial burden on health care systems, with management costs rising sharply as the disease progresses, underscoring the need for early, cost-effective interventions.
View Article and Find Full Text PDFMechanisms of Homoarginine: Looking Beyond Clinical Outcomes.
Acta Physiol (Oxf)
February 2025
Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.
Purpose: Homoarginine (hArg) is an arginine metabolite that has been known for years, but its physiological role in the body remains poorly understood. For instance, it is well known that high hArg concentrations in the blood are protective against several disease states, yet the mechanisms behind these health benefits are unclear. This review compiles what is known about hArg, namely its synthetic pathways, its role in different diseases and conditions, and its proposed mechanisms of action in humans and experimental animals.
View Article and Find Full Text PDFSkin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
J Physiol
January 2025
Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.
Here we characterize seven Cx30.3 gene variants (R22H, S26Y, P61R, C86S, E99K, T130M and M190L) clinically associated with the rare skin disorder erythrokeratodermia variabilis et progressiva (EKVP) in tissue-relevant and differentiation-competent rat epidermal keratinocytes (REKs). We found that all variants, when expressed alone or together with wildtype (WT) Cx30.
View Article and Find Full Text PDFThe Impact of Storage Conditions on Stool Smellprints as Assessed by an Electronic Nose.
ACS Sens
January 2025
Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, Indianapolis, Indiana 46202, United States.
Necrotizing enterocolitis (NEC) is a devastating disease of the neonatal gastrointestinal tract. Volatile organic compounds (VOCs), odoriferous compounds released as a byproduct of bacterial metabolism, can be used as a proxy for gut health. We hypothesized that patients with NEC would have different microbial profiles and elicit different VOC signatures as assessed by gas chromatography/mass spectrometry (GC/MS) or an electronic nose compared to controls.
View Article and Find Full Text PDFBackground: Acne is an inflammatory skin disease afflicting the majority of the world's population at some point in their lifetime, and is seen to be chronic in about 50% of cases. Acne leads to significant social withdrawal, depression, and disfiguring scars in many cases. Available treatments are characterized by high rates of relapse, dangerous side effects, and social stigma, which often leads to poor patient compliance and treatment failure.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!