Publications by authors named "L Phylactou"
Background And Aims: Puberty is a crucial developmental stage marked by the transition from childhood to adulthood, organized by complex hormonal signaling within the neuroendocrine system. The hypothalamus, a central region in this system, regulates pubertal functions through the hypothalamic-pituitary-gonadal (HPG) axis. Gonadotropin-releasing hormone (GnRH) neurons, essential in puberty control, release GnRH in a pulsatile manner, initiating the production of sex hormones.
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- The report highlights the activities of the Molecular Genetics-Function and Therapy (MGFT) department at the Cyprus Institute of Neurology and Genetics, emphasizing its role as a Reference Center for the European Network on Rare Endocrine Conditions (Endo-ERN).
- Over 15 years of collaboration has resulted in more than 2000 genetic tests performed for diagnosing rare inherited endocrine disorders, with significant findings related to various genetic variants associated with conditions like Congenital Adrenal Hyperplasia (CAH) and Multiple Endocrine Neoplasia (MEN).
- The MGFT has also developed a diagnostic and research program focusing on premature puberty, particularly the role of the MKRN3 gene, aiming to enhance healthcare for patients with rare endocrine
Human sexual and reproductive development is regulated by the hypothalamic-pituitary-gonadal (HPG) axis, which is primarily controlled by the gonadotropin-releasing hormone (GnRH) acting on its receptor (GnRHR). Dysregulation of the axis leads to conditions such as congenital hypogonadotropic hypogonadism (CHH) and delayed puberty. The pathophysiology of GnRHR makes it a potential target for treatments in several reproductive diseases and in congenital adrenal hyperplasia.
View Article and Find Full Text PDFIn vivo SELEX is an advanced adaptation of Systematic Evolution of Ligands by Exponential Enrichment (SELEX) that allows the development of aptamers capable of recognizing targets directly within their natural microenvironment. While this methodology ensures a higher translation potential for the selected aptamer, it does not select for aptamers that recognize specific cell types within a tissue. Such aptamers could potentially improve the development of drugs for several diseases, including neuromuscular disorders, by targeting solely the proteins involved in their pathogenesis.
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