{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n LINC01081 is a lung‐specific long noncoding RNA that forms part of a distal regulatory enhancer upstream of the FOXF1 gene, a crucial transcription factor for lung development. Studies in patients with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) have shown that deletions disrupting regions encompassing LINC01081 are associated with a marked reduction in FOXF1 transcript levels, highlighting its role as a positive regulator of FOXF1 expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, functional experiments using RNA interference in normal fetal lung fibroblasts further corroborate that diminished LINC01081 levels lead to corresponding decreases in FOXF1 expression. This regulatory relationship underscores the importance of LINC01081 in the enhancer network that governs alveolar and vascular development in the lung, and suggests that loss or perturbation of its function may contribute to the pathogenesis of ACDMPV, possibly in the context of genomic imprinting at the FOXF1 locus."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-016-1655-9"}], "href": "https://doi.org/10.1007/s00439-016-1655-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27071622"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27071622"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Przemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.36606"}], "href": "https://doi.org/10.1002/ajmg.a.36606"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24842713"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24842713"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Avinash V Dharmadhikari, Przemyslaw Szafranski, Vladimir V Kalinichenko, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Genomics (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2174/1389202916666150122223252"}], "href": "https://doi.org/10.2174/1389202916666150122223252"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26085809"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26085809"}]}]}]}