Epigenome editing of the CFTR-locus for treatment of cystic fibrosis

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A complex intronic enhancer regulates expression of the CFTR gene by direct interaction with the promoter.

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Targeted activation of cystic fibrosis transmembrane conductance regulator.

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Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers.

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Highly specific epigenome editing by CRISPR-Cas9 repressors for silencing of distal regulatory elements.

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Secretory cells dominate airway CFTR expression and function in human airway superficial epithelia.

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A revised airway epithelial hierarchy includes CFTR-expressing ionocytes.

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The genetic and mechanistic basis for variation in gene regulation.

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CRISPR-Cas9 epigenome editing enables high-throughput screening for functional regulatory elements in the human genome.

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Compact and highly active next-generation libraries for CRISPR-mediated gene repression and activation.

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Single-cell proteomic and transcriptomic analysis of macrophage heterogeneity using SCoPE2.

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R117H-CFTR function and response to VX-770 correlate with mRNA and protein expression in intestinal organoids.

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The cystic fibrosis gene has a "housekeeping"-type promoter and is expressed at low levels in cells of epithelial origin.

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A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte.

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Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation.

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Correctors and potentiators rescue function of the truncated W1282X-cystic fibrosis transmembrane regulator (CFTR) translation product.

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