Publications by authors named "V Neocleous"
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 PDFMultiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant (AD) condition with very high penetrance and expressivity. It is characterized into three clinical entities recognized as MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). In both MEN2A and MEN2B, there is a manifestation of multicentric tumor formation in the major organs such as the thyroid, parathyroid, and adrenal glands where the proto-oncogene is expressed.
View Article and Find Full Text PDFObjective: The study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.
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