Special Issue "Genetics and Genomics of Erythrocytosis"
Deadline for manuscript submissions: 30 October 2021.
Interests: congenital erythrocytosis (ECYT); idiopathic erythrocytosis (IE); erythropoiesis; molecular pathways; genetic background; molecular diagnosis
Interests: myeloproliferative disorders; polycythaemia vera; idiopathic erythrocytosis; acute myeloid leukaemia; chronic myeloid leukaemia; clinical trials
2. Research Centre for Anthropology and Health (CIAS), Department of Life Sciences, University of Coimbra, 3004-531 Coimbra, Portugal
Interests: red blood cell disorders; hemoglobinopathies; congenital erythrocytosis
Interests: inflammation; genetic defects; myeloproliferative neoplasms (MPN); multiple myeloma (MM); monoclonal gammopathy of undetermined significance (MGUS)
Erythrocytosis is a blood disorder characterized by an increased mass of red blood cells. The most common causes of erythrocytosis are acquired and caused by diseases and conditions associated with hypoxemia or overexpression of erythropoietin. More rarely, erythrocytosis has a known genetic background. Polycythaemia Vera (PV) is caused by somatic mutations, mainly in JAK2, while congenital or familial erythrocytosis (ECYT) is a rare disorder caused by germline mutations in several genes. ECYT1 is associated with EPOR gene variants, ECYT2-5 with defects in the oxygen sensing pathways (variants in VHL, EGLN1, EPAS1, EPO) and ECYT6-8 with increased affinity of haemoglobin for oxygen (variants in HBB, HBA1, HBA2, BPGM). Many patients with idiopathic erythrocytosis remain undiagnosed, indicating that the genes and molecular pathways involved in disease development are not yet fully understood.
This Special Issue on the Genetics and Genomics of Erythrocytosis will include a selection of original papers and reviews focusing on the genetic background and molecular mechanisms involved in the development of erythrocytosis, including polycythaemia vera and congenital erythrocytosis. Recent advances in genetic and clinical diagnostics will be reviewed. Current and new regulatory networks, epigenetic origins, and pathophysiological mechanisms will be discussed.
Prof. Dr. Nataša Debeljak
Prof. Dr. Celeste Bento
Dr. Sylvie Hermouet
Prof. Dr. Mary Frances McMullin
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- gene regulatory networks
- molecular pathways
- genetic diagnosis
- clinical diagnosis
- pathophysiologic mechanisms
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: Genetic background of Congenital Erythrocytosis
Authors: Mary Frances McMullin
Title: Genetic background of Polycythaemia Vera
Authors: Francois Girodon
Title: Genetic diagnosis of Erythrocytosis
Authors: Celeste Bento
Title: New molecular pathways in Erythrocytosis
Authors: Nataša Debeljak
Title: HIFA paralogs in cell response to hypoxia
Authors: Tanja Kunej
Title: HIF gene atlas
Authors: Aleša Kristan