20.500.12556/RUL-135705 Molecular pathways involved in the development of congenital erythrocytosis Patients with idiopathic erythrocytosis are directed to targeted genetic testing including nine genes involved in oxygen sensing pathway in kidneys, erythropoietin signal transduction in pre-erythrocytes and hemoglobin-oxygen affinity regulation in mature erythrocytes. However, in more than 60% of cases the genetic cause remains undiagnosed, suggesting that other genes and mechanisms must be involved in the disease development. This review aims to explore additional molecular mechanisms in recognized erythrocytosis pathways and propose new pathways associated with this rare hematological disorder. For this purpose, a comprehensive review of the literature was performed and different in silico tools were used. We identified genes involved in several mechanisms and molecular pathways, including mRNA transcriptional regulation, post-translational modifications, membrane transport, regulation of signal transduction, glucose metabolism and iron homeostasis, which have the potential to influence the main erythrocytosis-associated pathways. We provide valuable theoretical information for deeper insight into possible mechanisms of disease development. This information can be also helpful to improve the current diagnostic solutions for patients with idiopathic erythrocytosis. erythrocytosis disease mechanisms metabolomics congenital familial signal transduction transcriptomic proteomic eritrocitoza mehanizmi bolezni metabolomika true false true Angleški jezik Slovenski jezik Članek v reviji 2022-03-29 10:15:25 2022-03-29 10:15:31 2022-09-14 04:14:44 0000-00-00 00:00:00 2021 0 0 20 str. iss. 8, art. 1150 Vol. 12 2021 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.1 2073-4425 10.3390/genes12081150 72028419 RAZ_Tomc_Jana_2021.pdf RAZ_Tomc_Jana_2021.pdf 1 E172E654ADD3E49571EB2A4E93E3CBF6 9921db7c8cb63bd02e4864d22c131f9a2f8f192a3d10fcde6a397ddbb637bc57 9be505df-af38-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=154949 https://www.mdpi.com/2073-4425/12/8/1150 1 62711404-af38-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=154948 Medicinska fakulteta 0 0 0