Search Results - "Bell, Robert J.A."
-
1
DNA Methylation and Somatic Mutations Converge on the Cell Cycle and Define Similar Evolutionary Histories in Brain Tumors
Published in Cancer cell (14-09-2015)“…The evolutionary history of tumor cell populations can be reconstructed from patterns of genetic alterations. In contrast to stable genetic events, epigenetic…”
Get full text
Journal Article -
2
Understanding TERT Promoter Mutations: A Common Path to Immortality
Published in Molecular cancer research (01-04-2016)“…Telomerase (TERT) activation is a fundamental step in tumorigenesis. By maintaining telomere length, telomerase relieves a main barrier on cellular lifespan,…”
Get full text
Journal Article -
3
Disruption of the β1L Isoform of GABP Reverses Glioblastoma Replicative Immortality in a TERT Promoter Mutation-Dependent Manner
Published in Cancer cell (10-09-2018)“…TERT promoter mutations reactivate telomerase, allowing for indefinite telomere maintenance and enabling cellular immortalization. These mutations specifically…”
Get full text
Journal Article -
4
Mutant IDH1 Expression Drives TERT Promoter Reactivation as Part of the Cellular Transformation Process
Published in Cancer research (Chicago, Ill.) (15-11-2016)“…Mutations in the isocitrate dehydrogenase gene IDH1 are common in low-grade glioma, where they result in the production of 2-hydroxyglutarate (2HG), disrupted…”
Get full text
Journal Article -
5
Intermediate DNA methylation is a conserved signature of genome regulation
Published in Nature communications (18-02-2015)“…The role of intermediate methylation states in DNA is unclear. Here, to comprehensively identify regions of intermediate methylation and their quantitative…”
Get full text
Journal Article -
6
YY1 regulates melanocyte development and function by cooperating with MITF
Published in PLoS genetics (01-05-2012)“…Studies of coat color mutants have greatly contributed to the discovery of genes that regulate melanocyte development and function. Here, we generated Yy1…”
Get full text
Journal Article -
7
Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation
Published in PLoS genetics (01-10-2014)“…In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both…”
Get full text
Journal Article -
8
The genetics of splicing in neuroblastoma
Published in Cancer discovery (01-04-2015)“…Regulation of mRNA splicing, a critical and tightly regulated cellular function, underlies the majority of proteomic diversity and is frequently disrupted in…”
Get more information
Journal Article -
9
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
Published in Nature communications (08-08-2019)“…The majority of common variants associated with common diseases, as well as an unknown proportion of causal mutations for rare diseases, fall in noncoding…”
Get full text
Journal Article -
10
The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer
Published in Science (American Association for the Advancement of Science) (29-05-2015)“…Reactivation of telomerase reverse transcriptase (TERT) expression enables cells to overcome replicative senescence and escape apoptosis, which are fundamental…”
Get full text
Journal Article -
11
Recurrent epimutations activate gene body promoters in primary glioblastoma
Published in Genome research (01-05-2014)“…Aberrant DNA hypomethylation may play an important role in the growth rate of glioblastoma (GBM), but the functional impact on transcription remains poorly…”
Get full text
Journal Article -
12
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element
Published in PloS one (19-08-2013)“…Psoriasis is an immune-mediated skin disorder that is inherited as a complex genetic trait. Although genome-wide association scans (GWAS) have identified 36…”
Get full text
Journal Article -
13
Abstract B12: GABP selectively binds and activates the mutant TERT promoter across multiple cancer types
Published in Cancer research (Chicago, Ill.) (01-12-2015)“…Abstract Reactivation of telomerase reverse transcriptase (TERT) expression enables cells to overcome replicative senescence and escape apoptosis, fundamental…”
Get full text
Journal Article -
14
A mathematical model for the determination of steady-state cardiolipin remodeling mechanisms using lipidomic data
Published in PloS one (10-06-2011)“…Technical advances in lipidomic analysis have generated tremendous amounts of quantitative lipid molecular species data, whose value has not been fully…”
Get full text
Journal Article -
15
EG-07CELL CYCLE SIGNATURE AND TUMOR PHYLOGENY ARE ENCODED IN THE EVOLUTIONARY DYNAMICS OF DNA METHYLATION IN GLIOMA
Published in Neuro-oncology (Charlottesville, Va.) (01-11-2014)“…The clonal evolution of tumor cell populations can be reconstructed from patterns of genetic alterations. In contrast, tumor epigenetic states, including DNA…”
Get full text
Journal Article -
16
Methods for cancer epigenome analysis
Published in Advances in experimental medicine and biology (2013)“…Accurate detection of epimutations in tumor cells is crucial for -understanding the molecular pathogenesis of cancer. Alterations in DNA methylation in cancer…”
Get more information
Journal Article -
17
CLONAL EVOLUTION OF GLIOMAS IS ENCODED IN THE EVOLUTIONARY DYNAMICS OF DNA METHYLATION
Published in Neuro-oncology (Charlottesville, Va.) (01-07-2014)“…BACKGROUND: The clonal evolution of tumor cell populations can be reconstructed from patterns of genetic alterations. In contrast, tumor epigenetic states are…”
Get full text
Journal Article