ArticleMolecular pathology : MP2003
Molecular detection of the G(-248)A BAX promoter nucleotide change in B cell chronic lymphocytic leukaemia.
Article in Molecular pathology : MP, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Pooled it
- HDAC Class I Inhibitor Domatinostat Induces Apoptosis Preferentially in Glioma Stem Cells Through p53-Dependent and -Independent Activation of BAX Expression.International journal of molecular sciences · 2025Article
- Evaluation ofArchives of Razi Institute · 2022Article
- Bax/Bcl-2 Cascade Is Regulated by the EGFR Pathway: Therapeutic Targeting of Non-Small Cell Lung Cancer.Frontiers in oncology · 2022Review
- BAX and SMAC regulate bistable properties of the apoptotic caspase system.Scientific reports · 2021Article
- BCL-2 (-938C>A), BAX (-248G>A), and HER2 Ile655Val Polymorphisms and Breast Cancer Risk in Indian Population.Journal of oncology · 2021Article
- Mechanisms of Apoptosis Resistance to NK Cell-Mediated Cytotoxicity in Cancer.International journal of molecular sciences · 2020Review
- The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2019Article
- BAX and CDKN1A polymorphisms correlated with clinical outcomes of gastric cancer patients treated with postoperative chemotherapy.Medical oncology (Northwood, London, England) · 2014Article
- Evaluation of Bax and Bak gene mutations and expression in breast cancer.BioMed research international · 2014Article
- Identification of functional DNA variants in the constitutive promoter region of MDM2.Human genomics · 2012Article
- The apoptotic response in HCT116BAX-/- cancer cells becomes rapidly saturated with increasing expression of a GFP-BAX fusion protein.BMC cancer · 2010Article
- The BCL-2 promoter (-938C>A) polymorphism does not predict clinical outcome in chronic lymphocytic leukemia.Leukemia · 2008Article
- Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage.PLoS genetics · 2005Article
- G125A single-nucleotide polymorphism in the human BAX promoter affects gene expression.Oncogene · 2005Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA novel single nucleotide polymorphism (SNP), G(-248)A, in the 5' untranslated region of the BAX promoter and its association with reduced protein expression, progression beyond Rai stage 0, and treatment resistance in chronic lymphocytic leukaemia (CLL) has been reported previously.
aimTo develop a restriction enzyme analysis (REA) based method for routine detection of BAX promoter SNP in a clinical laboratory.
methodsThe BAX promoter was analysed in duplicate by REA and sequencing in 90 samples (from 45 patients with CLL, 43 controls, and two cell lines). The promoter region was amplified, digested with restriction endonucleases (Aci I and Tau I), and separated by gel electrophoresis.
resultsAfter digestion, the normal GG genotype samples produced three distinct bands. The homozygous AA replacement abolished the cleavage site, resulting in a single band. Although the heterozygous samples produced three bands, the two smaller visible bands were reduced in intensity (> 50%). The test characteristics of Aci I REA were better than those of Tau I REA, in terms of sensitivity (100% v 77.8%), specificity (98.6% v 92.3%), positive predictive value (95.03% v 87.4%), and negative predictive value (100% v 85.83%).
conclusionsREA using Aci I is a highly sensitive and specific method for detecting the BAX G(-248)A SNP in CLL.
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