{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BPESC1 has emerged in several independent studies as a gene of interest with diverse potential roles in human disease. In a genome‐wide association study of systolic blood pressure, variants in an intergenic region encompassing BPESC1 were significantly associated with blood pressure regulation, suggesting a possible regulatory function in cardiovascular physiology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, BPESC1 was identified among differentially expressed long noncoding RNAs in a competing endogenous RNA network in stage I hepatocellular carcinoma, where its altered expression correlated with overall patient survival."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In a separate study focused on triple‐negative breast cancer, BPESC1 contributed to a compact RNA signature that robustly predicted pathological complete response after neoadjuvant chemotherapy, further highlighting its potential as a biomarker."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In investigations addressing disorders of sex development, molecular analyses of BPESC1 revealed normal coding sequences in affected individuals, indicating that while BPESC1 is evolutionarily conserved, it is unlikely to be directly causative in such sex‐determination anomalies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Comparative genomic studies in goats and mice confirmed the presence of BPESC1 orthologues, yet without clear functional attribution, and initial mapping in a patient with blepharophimosis syndrome (BPES) led to the identification of BPESC1—although further mutation screening demonstrated that it does not play a major pathogenic role in BPES."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yan Yan Wu, Laurent Briollais "}, {"type": "b", "children": [{"type": "t", "text": "Mixed-effects models for joint modeling of sequence data in longitudinal studies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Proc (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1753-6561-8-S1-S92"}], "href": "https://doi.org/10.1186/1753-6561-8-S1-S92"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25519347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25519347"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xuefeng Gu, Hongbo Li, Ling Sha, et al. 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