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P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.
Int J Mol Sci
December 2024
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.
Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists. We developed and characterized a K562 erythroleukemia cell line with markedly reduced expression of the SLC25A38 protein (A38-low cells). This model successfully recapitulated the main features of CSA, including reduced heme content and mitochondrial respiration, increase in mitochondrial iron, ROS levels and sensitivity to oxidative stress.
View Article and Find Full Text PDFDifferential diagnosis of iron deficiency anemia from aplastic anemia using machine learning and explainable Artificial Intelligence utilizing blood attributes.
Sci Rep
January 2025
L&T Technology Services Limited, Mysore, Karnataka, India.
As per world health organization, Anemia is a most prevalent blood disorder all over the world. Reduced number of Red Blood Cells or decrease in the number of healthy red blood cells is considered as Anemia. This condition also leads to the decrease in the oxygen carrying capacity of the blood.
View Article and Find Full Text PDFGeneration of a genetically double-attenuated Plasmodium berghei parasite that fully arrests growth during late liver stage development.
PLoS One
December 2024
Institute of Cell Biology, University of Bern, Bern, Switzerland.
Malaria caused by Plasmodium parasites remains a large health burden. One approach to combat this disease involves vaccinating individuals with whole sporozoites that have been genetically modified to arrest their development at a specific stage in the liver by targeted gene deletion, resulting in a genetically attenuated parasite (GAP). Through a comprehensive phenotyping screen, we identified the hscb gene, encoding a putative iron-sulfur protein assembly chaperone, as crucial for liver stage development, making it a suitable candidate gene for GAP generation.
View Article and Find Full Text PDFEuropean Genotyping Survey of Dyserythropoietic Anemia and Myopathy Syndrome in English Springer Spaniels.
Vet Sci
November 2024
Department of Small Animal Internal Medicine, Vetsuisse Faculty, University of Zürich, Winterthurerstrasse 260, CH-8057 Zürich, Switzerland.
Dyserythropoietic anemia and myopathy syndrome (DAMS) with neonatal losses was recently characterized as an autosomal recessive disorder caused by an frameshift variant in English Springer Spaniels (ESSPs). The frequency and dissemination of the mutation remained unknown. The EHBP1L1 protein is essential for muscle function, and the Rab8/10-EHBP1L1-Bin1-dynamin axis participates in nuclear polarization during the enucleation of erythroblasts.
View Article and Find Full Text PDFCorrelation of Red Blood Cell Morphology with Serum Cobalamin and Folate Concentration in Dogs with Chronic Diarrhea: A Retrospective Study.
Metabolites
November 2024
Diagnostic Laboratory, School of Veterinary Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, 54643 Thessaloniki, Greece.
: Chronic diarrhea in dogs is a prevalent condition that significantly impacts canine health, often leading to weight loss, dehydration, and malnutrition. Diagnosing and treating chronic diarrhea is challenging due to its multifactorial nature, necessitating collaboration among veterinarians across various specialties. Measuring cobalamin and folate levels is a crucial diagnostic step for all dogs with chronic diarrhea.
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