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The α-globin super-enhancer acts in an orientation-dependent manner.
Nat Commun
January 2025
Gene Regulation Laboratory, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DS, Oxford, UK.
Individual enhancers are defined as short genomic regulatory elements, bound by transcription factors, and able to activate cell-specific gene expression at a distance, in an orientation-independent manner. Within mammalian genomes, enhancer-like elements may be found individually or within clusters referred to as locus control regions or super-enhancers (SEs). While these behave similarly to individual enhancers with respect to cell specificity, distribution and distance, their orientation-dependence has not been formally tested.
View Article and Find Full Text PDFComparison of Asymptomatic Brain Lesions Between Thalassemia Major and Sickle Cell Anemia Patients.
Medicina (Kaunas)
January 2025
Department of Thalassemia Unit, Hatay Education and Research Hospital, Hatay 31027, Turkey.
This study aimed to identify asymptomatic brain lesions in patients with β-thalassemia major (TM) and sickle cell anemia (SCA) and evaluate the correlation of these lesions with factors such as splenectomy, thrombocytosis, and blood transfusions. A total of 26 patients with thalassemia major and 23 patients with sickle cell anemia were included. Ischemic lesions were categorized as lacunar, small vessel, or multifocal.
View Article and Find Full Text PDFRelevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Genes (Basel)
December 2024
Laboratory of Medical Genetics, Clinical Pathology UOC, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
Asymptomatic Malaria Infection and Hidden Parasitic Burden in Gabonese Schoolchildren: Unveiling Silent Co-Infections in Rural and Urban Settings.
Trop Med Infect Dis
December 2024
Unit of Evolution, Epidemiology and Parasite Resistance (UNEEREP), Franceville Interdisciplinary Center for Medical Research (CIRMF), Franceville BP 769, Gabon.
This study aimed to determine the prevalence of co-infection with malaria and intestinal parasites and assess its association with anemia in school-aged children from rural and urban settlements in Gabon. This cross-sectional study involved afebrile school children recruited at schools between May and June 2021. Blood and stool samples were collected from participants whose parents or legal guardians provided informed consent to participate in the study.
View Article and Find Full Text PDFClassification of α-thalassemia data using machine learning models.
Comput Methods Programs Biomed
January 2025
Operations Research Group, Department of Materials and Production, Aalborg University, Aalborg, 9220, Denmark.
Background: Around 7% of the global population has congenital hemoglobin disorders, with over 300,000 new cases of α-thalassemia annually. Diagnosis is costly and inaccurate in low-income regions, often relying on complete blood count (CBC) tests. This study employs machine learning (ML) to classify α-thalassemia traits based on gender and CBC, exploring the effects of grouping silent- and non-carriers.
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