Searchable abstracts of presentations at key conferences in endocrinology
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10th European Congress of Endocrinology

Symposia

Epigenetics in endocrinology

ea0016s11.1 | Epigenetics in endocrinology | ECE2008

Epimutations in the human genome

Horsthemke Bernhard

Gene expression states are set by transcriptional activators and repressors and often locked in by cell-heritable chromatin states. Aberrant chromatin states leading to aberrant gene expression patterns (epimutations) can change developmental trajectories and result in disease. Epimutations have been detected in several recognizable syndromes, especially those involving imprinted genes, as well as in cancer. They can result from a DNA mutation in a cis- or trans-acting epigene...

ea0016s11.2 | Epigenetics in endocrinology | ECE2008

Mechanisms of selective gene expression in development

van Heyningen Veronica

The concept of tissue-specific gene expression is familiar to endocrinologists. Starting from the multipotent fertilized egg, selective gene expression is required to generate different tissue and cell types during development. There is generally progressive differentiation of initially dividing, but progressively committed, cells to form mature organs. Timing, size and positioning of organs and the setting up of connections between them all require complex regulation by netwo...

ea0016s11.3 | Epigenetics in endocrinology | ECE2008

Epigenetics in mammalian development

Zernicka-Goetz Magdalena

The classical way of thinking about the development of the early mouse embryo has been that it is an essential prerequisite for cells to adopt differential, inside or outside positions for them to acquire differential expression of cell fate determining genes. However, over recent years it has been realised that important differences arise between cells in gene expression, cell fate and potential earlier than previously realised, before cells acquire specific positions. We hav...

ea0016s11.4 | Epigenetics in endocrinology | ECE2008

Imprinting in human disease: lessons from the study of transient neonatal diabetes

Temple I Karen

Imprinted genes differ from most gene pairs in that only one gene of the pair is expressed determined by the parent they originate from. Many have been shown to play an important role in fetal growth and neurodevelopment. Most imprinted genes are found in clusters and expression is controlled by imprinting centres that contain differentially methylated regions. Monoallelic expression makes imprinted genes particularly vulnerable to naturally occurring genetic rearrangements an...