Search Results - "Edwards, Stacey L"
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Beyond GWASs: Illuminating the Dark Road from Association to Function
Published in American journal of human genetics (07-11-2013)“…Genome-wide association studies (GWASs) have enabled the discovery of common genetic variation contributing to normal and pathological traits and clinical drug…”
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Resistance to therapy caused by intragenic deletion in BRCA2
Published in Nature (28-02-2008)“…Cells with loss of BRCA2 function are defective in homologous recombination (HR) and are highly sensitive to inhibitors of poly(ADP-ribose) polymerase (PARP),…”
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Redefining normal breast cell populations using long noncoding RNAs
Published in Nucleic acids research (07-07-2023)“…Abstract Single-cell RNAseq has allowed unprecedented insight into gene expression across different cell populations in normal tissue and disease states…”
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Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage
Published in American journal of human genetics (03-08-2017)“…Breast cancer risk is strongly associated with an intergenic region on 11q13. We have previously shown that the strongest risk-associated SNPs fall within a…”
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CRISPR-Cas13d screens identify KILR, a breast cancer risk-associated lncRNA that regulates DNA replication and repair
Published in Molecular cancer (15-05-2024)“…Long noncoding RNAs (lncRNAs) have surpassed the number of protein-coding genes, yet the majority have no known function. We previously discovered 844 lncRNAs…”
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CRISPR screens identify gene targets at breast cancer risk loci
Published in Genome Biology (29-03-2023)“…Genome-wide association studies (GWAS) have identified > 200 loci associated with breast cancer risk. The majority of candidate causal variants are in…”
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A novel molecular solution for ultraviolet light detection in Caenorhabditis elegans
Published in PLoS biology (01-08-2008)“…For many organisms the ability to transduce light into cellular signals is crucial for survival. Light stimulates DNA repair and metabolism changes in…”
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Chromatin interactome mapping at 139 independent breast cancer risk signals
Published in Genome Biology (07-01-2020)“…Genome-wide association studies have identified 196 high confidence independent signals associated with breast cancer susceptibility. Variants within these…”
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Non-coding RNAs underlie genetic predisposition to breast cancer
Published in Genome Biology (07-01-2020)“…Genetic variants identified through genome-wide association studies (GWAS) are predominantly non-coding and typically attributed to altered regulatory elements…”
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Rapid one-step selection method for generating nucleic acid aptamers: development of a DNA aptamer against α-bungarotoxin
Published in PloS one (30-07-2012)“…Nucleic acids based therapeutic approaches have gained significant interest in recent years towards the development of therapeutics against many diseases…”
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Sentryn and SAD Kinase Link the Guided Transport and Capture of Dense Core Vesicles in Caenorhabditis elegans
Published in Genetics (Austin) (01-11-2018)“…Dense core vesicles (DCVs) can transmit signals by releasing neuropeptides from specialized synaptic regions called active zones. DCVs reach the active zone by…”
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Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants
Published in American journal of human genetics (06-08-2015)“…The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this…”
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Efficient reverse transcription using locked nucleic acid nucleotides towards the evolution of nuclease resistant RNA aptamers
Published in PloS one (25-04-2012)“…Modified nucleotides are increasingly being utilized in the de novo selection of aptamers for enhancing their drug-like character and abolishing the need for…”
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UNC-16 (JIP3) Acts Through Synapse-Assembly Proteins to Inhibit the Active Transport of Cell Soma Organelles to Caenorhabditis elegans Motor Neuron Axons
Published in Genetics (Austin) (01-09-2015)“…The conserved protein UNC-16 (JIP3) inhibits the active transport of some cell soma organelles, such as lysosomes, early endosomes, and Golgi, to the synaptic…”
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Synapse-Assembly Proteins Maintain Synaptic Vesicle Cluster Stability and Regulate Synaptic Vesicle Transport in Caenorhabditis elegans
Published in Genetics (Austin) (01-09-2015)“…The functional integrity of neurons requires the bidirectional active transport of synaptic vesicles (SVs) in axons. The kinesin motor KIF1A transports SVs…”
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Functional dissection of breast cancer risk-associated TERT promoter variants
Published in Oncotarget (15-09-2017)“…The multi-cancer susceptibility locus at 5p15.33 includes , encoding the telomerase catalytic subunit. Genome-wide association studies (GWAS) have identified…”
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A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding
Published in American journal of human genetics (02-06-2016)“…A recent meta-analysis of multiple genome-wide association and follow-up endometrial cancer case-control datasets identified a novel genetic risk locus for…”
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Androgen receptor expression predicts breast cancer survival: the role of genetic and epigenetic events
Published in BMC cancer (02-04-2012)“…Breast cancer outcome, including response to therapy, risk of metastasis and survival, is difficult to predict using currently available methods, highlighting…”
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Impaired dense core vesicle maturation in Caenorhabditis elegans mutants lacking Rab2
Published in The Journal of cell biology (21-09-2009)“…Despite a key role for dense core vesicles (DCVs) in neuronal function, there are major gaps in our understanding of DCV biogenesis. A genetic screen for…”
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Auxin-Inducible Degron System Reveals Temporal-Spatial Roles of HSF-1 and Its Transcriptional Program in Lifespan Assurance
Published in Frontiers in aging (11-07-2022)“…HSF-1 is a key regulator of cellular proteotoxic stress response and is required for animal lifespan. In , HSF-1 mediated heat shock response (HSR) declines…”
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