ArticleScientific reports2015
Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- LCCC 1025: a phase II study of everolimus, trastuzumab, and vinorelbine to treat progressive HER2-positive breast cancer brain metastases.Breast cancer research and treatment · 2018Trial
- NF-κB RelA regulates temporal oligodendrocyte differentiation in the postnatal brains.Frontiers in cellular neuroscience · 2025Article
- Copper induces neuron-sparing, ferredoxin 1-independent astrocyte toxicity mediated by oxidative stress.Journal of neurochemistry · 2023Article
- A defined roadmap of radial glia and astrocyte differentiation from human pluripotent stem cells.Stem cell reports · 2023Article
- DEAD-box RNA helicases with special reference to p68: Unwinding their biology, versatility, and therapeutic opportunity in cancer.Genes & diseases · 2023Review
- Proteomics separates adult-type diffuse high-grade gliomas in metabolic subgroups independent of 1p/19q codeletion and across IDH mutational status.Cell reports. Medicine · 2023Article
- Astrocyte Control of Zika Infection Is Independent of Interferon Type I and Type III Expression.Biology · 2022Article
- A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of CDKN2B-AS1.Human mutation · 2021Article
- Functional analysis of low-grade glioma genetic variants predicts key target genes and transcription factors.Neuro-oncology · 2021Article
- A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes.Human mutation · 2021Article
- Three-dimensional genome: developmental technologies and applications in precision medicine.Journal of human genetics · 2020Article
- The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes.Cancers · 2019Review
- Cancer the'RBP'eutics-RNA-binding proteins as therapeutic targets for cancer.Pharmacology & therapeutics · 2019Review
- ENvironmental Dynamics Underlying Responsive Extreme Survivors (ENDURES) of Glioblastoma: A Multidisciplinary Team-based, Multifactorial Analytical Approach.American journal of clinical oncology · 2019Review
- A transcriptome-wide association study of high-grade serous epithelial ovarian cancer identifies new susceptibility genes and splice variants.Nature genetics · 2019Article
- Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.Cancer research · 2019Article
- Novel insights into chromosomal conformations in cancer.Molecular cancer · 2017Review
- "Stealth dissemination" of macrophage-tumor cell fusions cultured from blood of patients with pancreatic ductal adenocarcinoma.PloS one · 2017Article
- Pleckstrin homology domain-containing protein PHLDB3 supports cancer growth via a negative feedback loop involving p53.Nature communications · 2016Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Glioma is the most common malignant primary brain tumor and is associated with poor prognosis. Genetic factors contributing to glioma risk have recently been investigated through genome-wide association studies (GWAS), implicating seven independent glioma risk loci in six chromosomal regions. Here, we performed an in-depth functional analysis of the risk locus proximal to the PHLDB1 gene on 11q23.3. We retrieved all SNPs in linkage disequilibrium (r(2) ≥ 0.2) with the glioma-associated SNP (rs498872) and performed a comprehensive bioinformatics and experimental functional analysis for the region. After testing candidate SNPs for allele-specific activity in a luciferase-based enhancer scanning assay, we established a subset of 10 functional SNPs in the promoters of PHLDB1 and DDX6, and in a putative enhancer element. Chromatin conformation capture (3C) identified a physical interaction between the enhancer element containing a functional SNP (rs73001406) and the promoter of the DDX6 gene. Knockdown experiments in cell culture and 3D assays to evaluate the role of PHLDB1 and DDX6 suggest that both genes may contribute to the phenotype. These studies reveal the functional landscape of the 11q23.3 glioma susceptibility locus and identify a network of functional SNPs in regulatory elements and two target genes as a possible mechanism driving glioma risk association.
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