{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent studies have highlighted a potential role for the long non‐coding RNA FLJ33360, which is located on the short arm of chromosome 5. In one line of investigation into Cri‐du‐chat syndrome—a condition caused by deletions spanning regions from 5p15.2 to 5p13—delineation of these breakpoints has underscored the importance of regulatory elements in determining the syndrome’s phenotypic presentation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Furthermore, a genome‐wide association study aimed at understanding the complex genetic architecture underlying atrioventricular septal defects in Down syndrome identified disomic regions on chromosome 5, including 5p15.31, among others. Although no single variant of large effect was found, this study adds to the evidence that multiple low-to-moderate effect variants in these regions may be significant, suggesting that genes located in these areas (potentially including FLJ33360) could contribute in a regulatory capacity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In a more direct investigation of FLJ33360’s function, research in hepatocellular carcinoma (HCC) demonstrated that FLJ33360 is upregulated in tumor tissues compared to adjacent non-tumor tissues. Functional assays in HCC cell lines (Bel-7402 and HepG2) revealed that knockdown of FLJ33360 significantly attenuated cell migration and invasion. Mechanistically, FLJ33360 appears to act by binding to miRNA-140, thereby reducing its levels; this downregulation of miRNA-140 leads to increased expression of MMP9, facilitating enhanced metastatic capability of HCC cells. Rescue experiments further supported the notion that the FLJ33360/miRNA-140/MMP9 axis plays a critical role in promoting HCC progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while genetic studies in chromosomal deletion syndromes and congenital heart defects underscore the importance of regulatory elements in the 5p region, direct functional analyses in HCC have identified FLJ33360 as a pro-metastatic lncRNA that exerts its effects through a miRNA-140 dependent mechanism. This multifaceted involvement suggests that FLJ33360 may be a key regulatory element whose altered expression contributes to disease phenotypes across different clinical contexts.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Layla Damasceno Espirito Santo, Lília Maria Azevedo Moreira, Mariluce Riegel "}, {"type": "b", "children": [{"type": "t", "text": "Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Res Int (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2016/5467083"}], "href": "https://doi.org/10.1155/2016/5467083"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27144168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27144168"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Dhanya Ramachandran, Zhen Zeng, Adam E Locke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "G3 (Bethesda) (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1534/g3.115.019943"}], "href": "https://doi.org/10.1534/g3.115.019943"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26194203"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26194203"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Zhenhui Lu, Yingzi Yu, Xiangchun Ding, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LncRNA FLJ33360 accelerates the metastasis in hepatocellular carcinoma by targeting miRNA-140/MMP9 axis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Transl Res (2020)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32194906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32194906"}]}]}]}