Search Results - "Downes, Damien"
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Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus
Published in Nature genetics (01-11-2021)“…The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19) pandemic has caused millions of deaths worldwide. Genome-wide association…”
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Tissue-specific CTCF–cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo
Published in Nature cell biology (01-08-2017)“…The genome is organized via CTCF–cohesin-binding sites, which partition chromosomes into 1–5 megabase (Mb) topologically associated domains (TADs), and further…”
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Hypoxia Induces Transcriptional and Translational Downregulation of the Type I IFN Pathway in Multiple Cancer Cell Types
Published in Cancer research (Chicago, Ill.) (01-12-2020)“…Hypoxia is a common phenomenon in solid tumors and is strongly linked to hallmarks of cancer. Recent evidence has shown that hypoxia promotes local immune…”
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DOT1L inhibition reveals a distinct subset of enhancers dependent on H3K79 methylation
Published in Nature communications (26-06-2019)“…Enhancer elements are a key regulatory feature of many important genes. Several general features including the presence of specific histone modifications are…”
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Defining genome architecture at base-pair resolution
Published in Nature (London) (01-07-2021)“…In higher eukaryotes, many genes are regulated by enhancers that are 10 4 –10 6 base pairs (bp) away from the promoter. Enhancers contain…”
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Natural and Experimental Rewiring of Gene Regulatory Regions
Published in Annual review of genomics and human genetics (31-08-2022)“…The successful development and ongoing functioning of complex organisms depend on the faithful execution of the genetic code. A critical step in this process…”
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Absolute Quantification of Transcription Factors Reveals Principles of Gene Regulation in Erythropoiesis
Published in Molecular cell (04-06-2020)“…Dynamic cellular processes such as differentiation are driven by changes in the abundances of transcription factors (TFs). However, despite years of studies,…”
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Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains
Published in Nature genetics (01-12-2018)“…The promoters of mammalian genes are commonly regulated by multiple distal enhancers, which physically interact within discrete chromatin domains. How such…”
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LanceOtron: a deep learning peak caller for genome sequencing experiments
Published in Bioinformatics (15-09-2022)“…Abstract Motivation Genome sequencing experiments have revolutionized molecular biology by allowing researchers to identify important DNA-encoded elements…”
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The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin
Published in Nature communications (17-06-2022)“…The chromatin remodeller ATRX interacts with the histone chaperone DAXX to deposit the histone variant H3.3 at sites of nucleosome turnover. ATRX is known to…”
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A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker
Published in Nature communications (21-06-2021)“…Many single nucleotide variants (SNVs) associated with human traits and genetic diseases are thought to alter the activity of existing regulatory elements…”
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Comparing the two leading erythroid lines BEL-A and HUDEP-2
Published in Haematologica (Roma) (01-08-2020)Get full text
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Enhancers predominantly regulate gene expression during differentiation via transcription initiation
Published in Molecular cell (04-03-2021)“…Gene transcription occurs via a cycle of linked events, including initiation, promoter-proximal pausing, and elongation of RNA polymerase II (Pol II). A key…”
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Capture-C: a modular and flexible approach for high-resolution chromosome conformation capture
Published in Nature protocols (01-02-2022)“…Chromosome conformation capture (3C) methods measure the spatial proximity between DNA elements in the cell nucleus. Many methods have been developed to sample…”
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High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale
Published in Nature communications (22-01-2021)“…Chromosome conformation capture (3C) provides an adaptable tool for studying diverse biological questions. Current 3C methods generally provide either…”
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Erratum to: Comparing the two leading erythroid lines BEL-A and HUDEP-2
Published in Haematologica (Roma) (01-01-2024)Get full text
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Dynamic Runx1 chromatin boundaries affect gene expression in hematopoietic development
Published in Nature communications (09-02-2022)“…The transcription factor RUNX1 is a critical regulator of developmental hematopoiesis and is frequently disrupted in leukemia. Runx1 is a large, complex gene…”
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Impaired DNA demethylation of C/EBP sites causes premature aging
Published in Genes & development (01-06-2018)“…Changes in DNA methylation are among the best-documented epigenetic alterations accompanying organismal aging. However, whether and how altered DNA methylation…”
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Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia
Published in Nature communications (04-09-2017)“…β-Thalassemia is one of the most common inherited anemias, with no effective cure for most patients. The pathophysiology reflects an imbalance between α- and…”
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Reactivation of a developmentally silenced embryonic globin gene
Published in Nature communications (21-07-2021)“…The α- and β-globin loci harbor developmentally expressed genes, which are silenced throughout post-natal life. Reactivation of these genes may offer…”
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