Passive and active DNA methylation and the interplay with genetic variation in gene regulation
DNA methylation is an essential epigenetic mark whose role in gene regulation and its dependency on genomic sequence and environment are not fully understood.
Maria Gutierrez-Arcelus+20 more
doaj +1 more source
Identifying Epigenetic Signature of Breast Cancer with Machine Learning [PDF]
The research reported in this paper identifies the epigenetic biomarker (methylation beta pattern) of breast cancer. Many cancers are triggered by abnormal gene expression levels caused by aberrant methylation of CpG sites in the DNA. In order to develop early diagnostics of cancer-causing methylations and to develop a treatment, it is necessary to ...
arxiv
Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs [PDF]
BACKGROUND: A key focus in cancer research is the discovery of biomarkers that accurately diagnose early lesions in non-invasive tissues. Several studies have identified malignancy-associated DNA methylation changes in blood, yet no general cancer ...
Bell, CG+7 more
core +5 more sources
MethPrimer: designing primers for methylation PCRs
MOTIVATION DNA methylation is an epigenetic mechanism of gene regulation. Bisulfite- conversion-based PCR methods, such as bisulfite sequencing PCR (BSP) and methylation specific PCR (MSP), remain the most commonly used techniques for methylation mapping.
Long-Cheng Li, R. Dahiya
semanticscholar +1 more source
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks+20 more
wiley +1 more source
Role of TET enzymes in DNA methylation, development, and cancer
Ten eleven translocation (TET) genes, and especially TET2, are frequently mutated in various cancers, but how the TET proteins contribute to the onset and maintenance of these malignancies is largely unknown. In this review, Rasmussen and Helin highlight
K. D. Rasmussen, K. Helin
semanticscholar +1 more source
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi+7 more
wiley +1 more source
Possible role of GADD45γ methylation in diffuse large B-cell Lymphoma: Does it affect the progression and tissue involvement? [PDF]
Objective: Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma among adults and is characterized by heterogeneous clinical, immunophenotypic, and genetic features.
Barış, İkbal Cansu+10 more
core +2 more sources
methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles
DNA methylation is a chemical modification of cytosine bases that is pivotal for gene regulation,cellular specification and cancer development. Here, we describe an R package, methylKit, thatrapidly analyzes genome-wide cytosine epigenetic profiles from ...
A. Akalin+6 more
semanticscholar +1 more source
In this article, the establishment and characterization of a self‐assembled 3D BBB spheroid model using human induced pluripotent stem cell (hiPSC)‐derived and primary cells is reported. Spheroids demonstrate in‐vivo like tight junction ultrastructure and, in comparison to 2D mono‐cultures, higher transcript expression of BBB specific genes.
Sanjana Mathew‐Schmitt+10 more
wiley +1 more source