{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n C12orf75—also known as OCC‐1 in several studies—has emerged as a potentially important regulatory gene implicated in diverse human diseases. In a large-scale imaging‐genetics study of Alzheimer’s disease, for example, genetic variation in a region spanning NUAK1 and C12orf75 was suggestively associated with quantitative amyloid‐β deposition in the cerebral cortex, hinting at a possible role in neurodegenerative processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In parallel, proteomic and transcriptomic analyses in glioblastoma have included C12orf75 among several markers that are differentially expressed in tumor cells, suggesting that its protein product is detectable in brain malignancies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, independent gene‐expression studies in head and neck squamous cell carcinoma and in myocardial infarction have identified C12orf75 as a component of multi‐gene signatures that correlate with variations in immune cell (especially CD8+ T cell and natural killer cell) infiltration as well as with patient prognosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " These findings indicate that C12orf75 may serve as a useful biomarker for disease progression and therapeutic response in distinct clinical settings."}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, studies originally characterizing OCC‐1 in colon carcinomas have revealed that the transcript—despite lacking a large open reading frame—appears to function in the post‐transcriptional regulation of gene expression. Functional work in colorectal cancer models showed that OCC‐1/C12orf75 can bind to the RNA‐binding protein HuR and facilitate its ubiquitination and degradation, thereby reducing the levels of HuR and its associated oncogenic mRNAs."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": " Such findings support a tumor‐suppressive role for C12orf75 in colorectal cancer by modulating mRNA stability and cell cycle progression.\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Overall, the current body of evidence suggests that C12orf75/OCC‐1 is involved in both neural and oncogenic contexts, acting as a modulator of post‐transcriptional gene regulation and as a component of diagnostic gene signatures. Further investigations into its molecular functions may provide novel insights into its role as a regulator of mRNA turnover and immune responses in diseases ranging from Alzheimer’s to cancer.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "V K Ramanan, S L Risacher, K Nho, et al. "}, {"type": "b", "children": [{"type": "t", "text": "APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2013.19"}], "href": "https://doi.org/10.1038/mp.2013.19"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23419831"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23419831"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Petros Evangelou, Mathias Groll, Henry Oppermann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Assessment of ApoC1, LuzP6, C12orf75 and OCC-1 in cystic glioblastoma using MALDI-TOF mass spectrometry, immunohistochemistry and qRT-PCR."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Mol Morphol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00795-019-00223-8"}], "href": "https://doi.org/10.1007/s00795-019-00223-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31006040"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31006040"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Guangzhen Cai, Guannan Jin, Junnan Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pan-cancer analysis of the prognostic value of C12orf75 based on data mining."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.203081"}], "href": "https://doi.org/10.18632/aging.203081"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34074799"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34074799"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yingning Wu, Lingzhang Meng, Kai Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Tumor-Infiltration CD8+ T Cell-Based Gene Signature for Facilitating the Prognosis and Estimation of Immunization Responses in HPV+ Head and Neck Squamous Cell Cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Oncol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fonc.2021.749398"}], "href": "https://doi.org/10.3389/fonc.2021.749398"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34650931"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34650931"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Xiang Chen, Qian Li, Zhong Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Potential Diagnostic Biomarkers From Circulating Cells During the Course of Sleep Deprivation-Related Myocardial Infarction Based on Bioinformatics Analyses."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Cardiovasc Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fcvm.2022.843426"}], "href": "https://doi.org/10.3389/fcvm.2022.843426"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35369343"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35369343"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Laurence Pibouin, Jacqueline Villaudy, Didier Ferbus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cloning of the mRNA of overexpression in colon carcinoma-1: a sequence overexpressed in a subset of colon carcinomas."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Genet Cytogenet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0165-4608(01)00634-3"}], "href": "https://doi.org/10.1016/s0165-4608(01"}, {"type": "t", "text": "00634-3) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11890990"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11890990"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yang Lan, Xuewei Xiao, Zhengchi He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Long noncoding RNA OCC-1 suppresses cell growth through destabilizing HuR protein in colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gky214"}], "href": "https://doi.org/10.1093/nar/gky214"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29931370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29931370"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "B Chai, J-Y Li, D Fritze, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel transcript is up-regulated by fasting in the hypothalamus and enhances insulin signalling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neuroendocrinol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1365-2826.2012.02378.x"}], "href": "https://doi.org/10.1111/j.1365-2826.2012.02378.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22935015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22935015"}]}]}]}