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Abstract. Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
29 Αυγ 2024 · Sickle cell anemia (SCA) is caused by homozygosity of hemoglobin S, a result of a missense mutation in the β-globin gene that substitutes valine for glutamine at the sixth amino acid in...
25 Σεπ 2007 · The crucial role of the mutation to valine is that in the fibres, hydrophobic contacts are formed between valine of one HbS molecule and alanine, phenylalanine and leucine from an adjacent HbS molecule ( Wishner et al, 1975; Fronticelli & Gold, 1976; Dykes et al, 1979; Carrager et al, 1988 ).
A cross-sectional clinic-based study exploring whether variants within genes coding for enzymes of the transmethylation and trans-sulphuration pathways are associated with inter-individual phenotypic variation in sickle cell anaemia in Jamaica.
21 Ιουν 2023 · Sickle cell disease (SCD) is a hemoglobinopathy characterized by mutation of the beta-globin chain caused by glutamic acid substituted by valine in the sixth codon, which results in the formation of the mutant sickle cell hemoglobin (HbS) allele ßs.
11 Φεβ 2022 · Sickle cell disease is a single-cell mutation gene disorder with a substitution of glutamine to valine at the sixth amino acid position in the beta chain hemoglobin. The mutation causes the body to make abnormal hemoglobin that causes the red blood cells to form a crescent shape that is rigid, sticky, and has a lack of iron and oxygen to carry ...
17 Μαρ 2022 · The SOD2 amino acid valine-to-alanine substitution at position 16 (V16A) in the mitochondrial leader sequence is a common genetic variant among patients with sickle cell disease (SCD). However, little is known about the cardiovascular consequences of SOD2 V16A in SCD patients or its impact on endothelial cell function.
