DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
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Summary
Genotyping additional BCL11A SNPs, HBS1L-MYB SNPs and an SNP upstream of Gγ-globin (HBG2; the XmnI polymorphism) provided a clear example of inherited common sequence variants modifying the severity of a monogenic disease.
- Type
- dissertation
- Published
- 2008-08-19
- Cited by
- 579
- References
- 33
- OpenAlex
- https://openalex.org/W18667698
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:23066171
Keywords
Cronbach's alpha, Information and Communications Technology, Medical education, Psychology, Reliability (semiconductor)
References
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- Linear Models With R
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- Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.
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- Association Studies of BMI and Type 2 Diabetes in the Neuropeptide Y Pathway
- Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
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Cited by
- The prevention of thalassemia.
- Genetic association studies in β-hemoglobinopathies.
- Sickle Cell Disease: New Opportunities and Challenges in Africa
- The effect of hematocrit and hemoglobin on the risk of ischemic heart disease: A Mendelian randomization study.
- Studies of novel variants associated with Hb F in Sardinians and Tanzanians in sickle cell disease patients from Cameroon
- Study on Hydroxyurea Response in Hemoglobinopathies Patients Using Genetic Markers and Liquid Erythroid Cultures
- INTEGRATING BIOMEDICAL AND PSYCHOSOCIAL APPROACHES TO STUDY PAIN IN PEDIATRIC SICKLE CELL DISEASE
- Genetic predisposition to β-thalassemia and sickle cell anemia in Turkey: a molecular diagnostic approach.
- ROLES OF KRÜPPEL LIKE FACTORS KLF1, KLF2, AND KLF4 IN EMBRYONIC BETA-GLOBIN GENE EXPRESSION
- A spectrum of gene regulatory phenomena at mammalian beta-globin gene loci.
- How I treat …
- Genetic determinants of clinical heterogeneity in sickle cell disease
- Variation in Gamma-Globin Expression before and after Induction with Hydroxyurea Associated with BCL11A, KLF1 and TAL1
- Structural and Functional Characterization of the MBD2-NuRD Co-Repressor Complex
- Functional investigation of the HBS1L-MYB intergenic region on chromosome 6q
- Cellular and biomolecular technologies for stratification of β thalassemia patients: applications in theranostics
- The Influence of Polymorphisms in Disease Severity in β-Thalassemia
- Genomic architecture of sickle cell disease clinical variation in children from West Africa : a case-control study design
- A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia
- rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients
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