Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Constantina G. Constantinou"'
Autor:
Panayiota L. Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G. Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W. Lederer, Thessalia Papasavva
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition. With its genetic heterogeneity, variable penetrance and expressivi
Externí odkaz:
https://doaj.org/article/e1847ccec28649a092a2857cfeb4783f
Autor:
Basma Naiisseh, Panayiota L. Papasavva, Nikoletta Y. Papaioannou, Marios Tomazou, Lola Koniali, Xenia Felekis, Constantina G. Constantinou, Maria Sitarou, Soteroula Christou, Marina Kleanthous, Carsten W. Lederer, Petros Patsali
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102183- (2024)
β-Thalassemia is brought about by defective β-globin (HBB [hemoglobin subunit β]) formation and, in severe cases, requires regular blood transfusion and iron chelation for survival. Genome editing of hematopoietic stem cells allows correction of u
Externí odkaz:
https://doaj.org/article/b91282ff2bb6418eb5eea22e8d27f4eb
Autor:
Constantina G Constantinou, Eleni Karitzi, Stefania Byrou, Coralea Stephanou, Kyriaki Michailidou, Christiana Makariou, Georgia Hadjilambi, Agathoklis Christofides, Marina Kleanthous, Thessalia Papasavva
Publikováno v:
Clinical chemistry. 68(8)
Background Thalassemias are inherited blood disorders and by far one of the most common monogenic diseases globally. Beta-thalassemia has a particularly high prevalence in Cyprus, with the IVSI-110 G>A (HBB:c.93-21G>A) pathogenic variation representi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5c9dd719beb83a9078363b04a8b68d
https://pubmed.ncbi.nlm.nih.gov/35757992
https://pubmed.ncbi.nlm.nih.gov/35757992