{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Long non‐coding RNAs (lncRNAs) have emerged as important regulators across a wide spectrum of biological processes—including ocular function, metabolic regulation, and tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": " In contrast to these broader roles, recent positional cloning in a patient with macrosomia, obesity, macrocephaly, and ocular abnormalities (MOMO syndrome) has specifically implicated the novel lncRNA LINC00237 in disease pathogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In this study, a homozygous balanced reciprocal translocation disrupting LINC00237 was identified in a child with MOMO syndrome. Normally, LINC00237 transcripts are detected in lymphocytes of healthy individuals and show particularly high expression in the brain. In the affected patient, the absence of normal LINC00237 expression suggests that the loss of this lncRNA contributes to the constellation of clinical features observed – including hyperphagia-related obesity, abnormal somatic growth, and neurodevelopmental deficits. These findings support an autosomal recessive mode of inheritance for MOMO syndrome, and they highlight a potential role for LINC00237 in regulating neural and metabolic pathways critical to normal development.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Fang Li, Xuyang Wen, He Zhang, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Construction of a Competitive Endogenous RNA Network in Uterine Corpus Endometrial Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Monit (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.12659/MSM.915798"}], "href": "https://doi.org/10.12659/MSM.915798"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31650984"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31650984"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Cai Han, Lin-Yu Sun, Wen-Tao Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Non-coding RNAs in cancers with chromosomal rearrangements: the signatures, causes, functions and implications."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Cell Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jmcb/mjz080"}], "href": "https://doi.org/10.1093/jmcb/mjz080"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31361891"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31361891"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Na Li, Peng Mi, Yuanjing Hu "}, {"type": "b", "children": [{"type": "t", "text": "Construction of dysregulated long non-coding RNA-associated competing endogenous RNA network in uterine corpus endometrial carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Cancer Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.21037/tcr.2019.11.44"}], "href": "https://doi.org/10.21037/tcr.2019.11.44"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35117412"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35117412"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Phi Yen Vu, Jérôme Toutain, David Cappellen, et al. 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