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Article

Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.

Human mutation - 1 Jun 2021

Szafranski Przemyslaw, Gambin Tomasz, Karolak Justyna A, Popek Edwina, Stankiewicz Paweł

Abstract excerpt

The FOXF1 gene, causative for a neonatal lethal lung developmental disorder alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), maps 1.7 kb away from the long noncoding RNA gene FENDRR on the opposite strand, suggesting they may be coregulated. Using RNA sequencing in lung tissue from ACDMPV patients with heterozygous deletions of the FOXF1 distant enhancer located 286 kb upstream, leaving...

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Share to Enhancer Elements, Genetic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33739555
DOI: 10.1002/humu.24198
PMCID: PMC8284783

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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