{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n In a recent targeted array comparative genomic hybridization study of congenital diaphragmatic hernia (CDH) cases, copy number variants (CNVs) within several candidate regions were evaluated in patients and healthy controls, leading to the identification of high‐priority candidate genes. Among these candidates, HLX-AS1—a long noncoding RNA transcript positioned antisense to the HLX gene—was highlighted as potentially significant. Although its precise function remains to be fully elucidated, HLX-AS1 is hypothesized to play a regulatory role in gene expression, likely modulating HLX activity during embryonic development. Given that HLX is involved in tissue differentiation and organogenesis, particularly in diaphragm and lung development, CNVs affecting HLX-AS1 may disrupt these critical developmental pathways and contribute to the etiology of CDH. Further functional studies are warranted to clarify the mechanisms by which HLX-AS1 influences HLX expression and to delineate its overall impact on the morphogenesis of the diaphragm and lungs."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Qihui Zhu, Frances A High, Chengsheng Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic analysis of copy number variation associated with congenital diaphragmatic hernia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1714885115"}], "href": "https://doi.org/10.1073/pnas.1714885115"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29712845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29712845"}]}]}]}