Sickle cellSri LankaBackground: Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of this "rare" group of patients. Results: All accessible ...
Sickle cell disease: old discoveries, new concepts, and future promise The discovery of the molecular basis of sickle cell disease was an important landmark in molecular medicine. The modern tools of molecular and cellular bio... PS Frenette,GF Atweh - 《Journal of Clinical Investigation》 被引...
Structure of sickle cell hemoglobin and molecular mechanism of the sickling phenomenon Clin. Chem., 14 (1967), p. 578 CrossrefView in ScopusGoogle Scholar 3 McCurdy P.R., Mahmood L. Intravenous urea treatment of the painful crisis of sickle cell disease. A preliminary report New Eng. J....
This is no less the case for sickle cell disease (SCD), a monogenic disorder of Mendelian inheritance, both clinical course, severity, and treatment response, is variable amongst affected individuals. New insight and discovery often lie between the intersection of seemingly disparate disciplines. Rece...
Genetic and molecular basis of sickle cell disease. SCD is caused by mutations in the β globin gene, located on the β globin locus found on the short arm of chromosome 11. The homozygous inheritance of Hb S or co-inheritance of Hb S with the β0 thalassemia mutation results in the mos...
1) What is the molecular basis of the Long Q-T syndrome disease? (What is abnormal at the cellular, biochemical, or molecular level)? 2) What is the genetic basis of Long Q-T syndrome? The disease sickle cell anemia is an example of what ...
Sickle cell disease (SCD) patients often exhibit a dyslipidemic sub-phenotype. Paraoxonase 1 (PON 1) is a serum glycoprotein associated with the high-density lipoproteins cholesterol (HDL-C), and variability in PON1 activity depends on the PON1 
Mild-phenotype of sickle cell disease: molecular basis, clinical presentation and management recommendations. Curr Pediatr. 2005;15(1):57–61. doi:10.1016/j.cupe.2004.10.009 International Journal of General Medicine Dovepress Publish your work in this journal The International Journal of General ...
1 Although Vernon Ingram's demonstration of the amino acid substitution in the beta-hemoglobin chain defined the molecular basis of sickle cell disease, 2 Pauling's study elucidated the nature of the disorder. His finding of a physicochemical abnormality in the hemoglobin molecules of sickle cell ...
Were you aware that sickle cell disease was the first disorder shown to be caused by a defective protein (Pauling and Itano, 1948) and also the first genetic disorder whose molecular basis was known (Ingram and Hunt, 1956)? These are just two tiny tidbits out of a mountain of information...