Publications by authors named "Despoina Chatzi"

Motor neuron diseases (MNDs) are a heterogeneous group of neurodegenerative disorders characterized by the progressive loss of motor neurons, resulting in debilitating physical decline. Advances in genetics have revolutionized the understanding of MNDs, elucidating critical genes such as , , , and , which are implicated in their pathogenesis. Despite these breakthroughs, significant gaps persist in understanding the interplay between genetic and environmental factors, the role of rare variants, and epigenetic contributions.

View Article and Find Full Text PDF

The skin, the largest organ of the human body, plays numerous essential roles, including protection against environmental hazards and the regulation of body temperature. The processes of skin homeostasis and ageing are complex and influenced by many factors, with epigenetic mechanisms being particularly significant. Epigenetics refers to the regulation of gene expression without altering the underlying DNA sequence.

View Article and Find Full Text PDF
Article Synopsis
  • Skin is the largest organ in the body and serves essential functions like protection, temperature regulation, sensation, and immune defense.
  • Its development begins in the embryonic stage, regulated by various molecular signals that guide the formation of the epidermis, hair follicles, and sweat glands.
  • Understanding the molecular mechanisms behind skin development and disease can lead to new targeted therapies and personalized treatments for skin disorders.
View Article and Find Full Text PDF

The neural crest (NC), also known as the "fourth germ layer", is an embryonic structure with important contributions to multiple tissue and organ systems. Neural crest cells (NCCs) are subjected to epithelial to mesenchymal transition and migrate throughout the embryo until they reach their destinations, where they differentiate into discrete cell types. Specific gene expression enables this precise NCCs delamination and colonization potency in distinct and diverse locations therein.

View Article and Find Full Text PDF
Article Synopsis
  • - Neurocristopathies (NCPs) are rare disorders resulting from problems during the formation and migration of neural crest cells (NCCs), often leading to various health issues depending on the affected region and genetic factors.
  • - These conditions typically follow Mendelian inheritance patterns, making them suitable for precision medicine approaches, with notable examples including Goldenhar syndrome and DiGeorge syndrome among others.
  • - The migratory nature of NCCs also makes them susceptible to tumors, with different types of cancers linked to their origin, such as schwannomas, highlighting the need for targeted treatments, especially for infants and young children affected by these disorders.
View Article and Find Full Text PDF