Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Introduction</b>: Sickle cell disease (SCD) is caused by a mutation in the HBB gene which is key for making a component of hemoglobin.
|
31847604 |
2020 |
Malignant neoplasm of mouth
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Thus in the current study, we assessed the association of thirteen SNPs in seven transcription factor genes along with HBB (a control SNP) to identify high-risk genotypes associated with increased oral cancer risk in an Indian cohort of tobacco habitués.
|
31452252 |
2020 |
Lip and Oral Cavity Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Thus in the current study, we assessed the association of thirteen SNPs in seven transcription factor genes along with HBB (a control SNP) to identify high-risk genotypes associated with increased oral cancer risk in an Indian cohort of tobacco habitués.
|
31452252 |
2020 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used prime editing in human cells to correct, efficiently and with few byproducts, the primary genetic causes of sickle cell disease (requiring a transversion in HBB) and Tay-Sachs disease (requiring a deletion in HEXA); to install a protective transversion in PRNP; and to insert various tags and epitopes precisely into target loci.
|
31634902 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS).
|
30843001 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a group of inherited blood disorders caused by mutations in the human β-globin gene, leading to the synthesis of abnormal hemoglobin S, chronic hemolysis, and oxidative stress.
|
30674214 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For over 100 years, clinicians and scientists have been unravelling the consequences of the A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the systemic manifestations of sickle cell disease (SCD), including vaso-occlusion, anaemia, haemolysis, organ injury and pain.
|
30514970 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell anemia (SCA) is caused by a point mutation in the β-globin gene that leads to devastating downstream consequences including chronic hemolytic anemia, episodic vascular occlusion, and cumulative organ damage resulting in death.
|
31076408 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic lesions of the β-globin gene result in haemoglobinopathies such as β-thalassemia and sickle cell disease.
|
30616747 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The main genetic modifier loci for HbF persistence, HBS1L-MYB, BCL11A and the β-globin gene cluster in adults also act in SCD patients.
|
30478714 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To develop a high throughput DNA based confirmatory assay for SCD and to detect mutations in the HBB gene.
|
31830127 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is caused by a monogenic mutation of the β-globin gene and affects millions of people worldwide.
|
31015205 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For optimal benefit, reversion of the point mutation in HBB leading to sickle cell disease (SCD) would permit precise homology-directed repair (HDR) while concurrently limiting on-target non-homologous end joining (NHEJ)-based HBB disruption.
|
31279229 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is an autosomal recessive disorder caused by a mutation in β-globin (HBB) gene.
|
31255831 |
2019 |
Anemia, Sickle Cell
|
0.800 |
Biomarker
|
disease |
BEFREE |
Highly efficient editing of the β-globin gene in patient-derived hematopoietic stem and progenitor cells to treat sickle cell disease.
|
31147717 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease is one of the most common severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes.
|
31684693 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is an inherited hemoglobinopathy caused by a single point mutation in the β-globin gene.
|
31506286 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell anaemia (SCA) is the consequence of abnormal haemoglobin production due to an inherited point mutation in the β-globin gene.
|
30664257 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hemoglobinopathies such as beta-thalassemia and sickle cell disease (SCD) are inherited disorders that are caused by mutations in beta-globin chain.
|
30124006 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia.
|
31762599 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a common monogenic disorder that is characterized by an A to T substitution in the β-globin gene that leads to the production of hemoglobin S (HbS).
|
31483336 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a genetic disorder characterised by a single mutation of the beta globin gene, causing the production of an abnormal haemoglobin called sickle haemoglobin (HbS).
|
30879904 |
2019 |
Anemia, Sickle Cell
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sickle cell disease (SCD) is a group of inherited disorders affecting red blood cells, which is caused by a single mutation that results in substitution of the amino acid valine for glutamic acid in the sixth position of the β-globin chain of hemoglobin.
|
31842406 |
2019 |
beta Thalassemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta thalassemias (βth) are the result of mutations in the β-globin gene.
|
30716678 |
2019 |
beta Thalassemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
β-Thalassemia (BT) is a hereditary disorder characterized by altered hemoglobin beta-chain synthesis amenable to allogeneic HSC transplantation and HSC gene therapy.
|
30830876 |
2019 |