DNA methylation 40 years later: its role in human health and disease

Reference: Abstract: A long path, initiated more than 40 years ago, has led to a deeper understanding of the complexity of gene regulation in eukaryotic genomes. In addition to genetic mechanisms, the imbalance in the epigenetic control of gene expression may profoundly alter the finely tuned machinery leading to gene regulation. Here, we review the … Read more

The version of Rolando

Reference: Abstract: Defined as a neurodevelopmental disorder that affects specific maturational processes of nerve cells, the Rett syndrome (RTT) results in impaired brain development and a consequent severe deficiency of the organism.ᅠThe etiology of the syndrome is due to the alteration of the MECP2 gene or other genes linked to it, located on chromosome X.ᅠThis … Read more

Chromatin diseases: from basic mechanisms to therapy

Reference: 238242 Abstract: The scope of this ITN is to promote research and training in the field of chromatin diseases. Chromatin diseases (CD) are genetic pathologies resulting from mutations in structural components of chromatin or in enzymes that biochemically modify chromatin, altering chromatin status and thereby causing drastic effects on gene expression. CD frequency ranges … Read more

Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome

Reference: Abstract: Spatial Organisation of DNA into chromatin profoundly affects gene expression and function. The recent association of genes controlling chromatin structure to human pathologies resulted in a better comprehension of the interplay between regulation and function. Among many chromatin disorders we will discuss Rett and immunodeficiency, centromeric instability and facial anomalies (ICF) syndromes. Both … Read more

Epigenetic Plasticity of the Genome

Reference: 503433 Abstract: In this ‘post-genomic’ era, advances in epigenetic research represent a new frontier that is predicted to yield novel insights for gene regulation, cell differentiation, stem cell plasticity, organismal development, human diseases, cancer, infertility and aging. A central emerging concept proposes that there is an ‘epigenetic code’, which considerably extends the information potential … Read more

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