{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CECR3 is a putative gene localized within the cat eye syndrome critical region on human chromosome 22q11. Comparative genomic analysis between human and mouse sequences led to its identification, together with another candidate (CECR9), by pinpointing solitary amplified exons that were not detected via expressed sequence tag (EST) matches."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Although its precise biological function remains to be elucidated, its location within a dosage‐sensitive region implicated in cat eye syndrome suggests that imbalances in its copy number—as observed in cases with structural rearrangements like the rare ring small supernumerary marker chromosome—might contribute to the diverse clinical manifestations of the syndrome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " While other studies have explored genetic variations in diverse contexts—such as metastasis timing in colorectal cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "and the regulation of endometrial receptivity by long noncoding RNAs"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "—none of these investigations directly address CECR3’s function. Thus, further research is required to define its role and assess whether aberrations in CECR3 dosage contribute to the pathogenesis of cat eye syndrome.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "T K Footz, P Brinkman-Mills, G S Banting, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Res (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gr.154901"}], "href": "https://doi.org/10.1101/gr.154901"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11381032"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11381032"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Irén Haltrich, Henriett Pikó, Eszter Kiss, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cytogenet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1755-8166-7-37"}], "href": "https://doi.org/10.1186/1755-8166-7-37"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24959203"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24959203"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Michelle E Penney, Patrick S Parfrey, Sevtap Savas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cancer (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12885-019-5346-5"}], "href": "https://doi.org/10.1186/s12885-019-5346-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30738427"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30738427"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Chun Feng, Jin-Ming Shen, Ping-Ping Lv, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Construction of implantation failure related lncRNA-mRNA network and identification of lncRNA biomarkers for predicting endometrial receptivity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijbs.25081"}], "href": "https://doi.org/10.7150/ijbs.25081"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30123082"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30123082"}]}]}]}