PubMed Central (PMC3 - NLM DTD)
Archive of life sciences journal literature at the U.S. National Institutes of Health (NIH), developed and managed by NIH's National Center for Biotechnology Information (NCBI) in the National Library of Medicine (NLM).
Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care - Eggermann, Thomas; Netchine, Irène; Temple, I Karen; Tümer, Zeynep; Monk, David; Mackay, Deborah; Grønskov, Karin; Riccio, Andrea; Linglart, Agnès; Maher, Eamonn R
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate...
Reviewer acknowledgement 2015 - Mahlknecht, Ulrich
The Editors of Clinical Epigenetics would like to thank all our reviewers who have contributed to the journal in volume 6 (2014).
Synthetic epigenetics—towards intelligent control of epigenetic states and cell identity - Jurkowski, Tomasz P; Ravichandran, Mirunalini; Stepper, Peter
Epigenetics is currently one of the hottest topics in basic and biomedical research. However, to date, most of the studies have been descriptive in nature, designed to investigate static distribution of various epigenetic modifications in cells. Even though tremendous amount of information has been collected, we are still far from the complete understanding of epigenetic processes, their dynamics or even their direct effects on local chromatin and we still do not comprehend whether these epigenetic states are the cause or the consequence of the transcriptional profile of the cell. In this review, we try to define the concept of synthetic...