{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DNAAF9, also known as C20orf194, has emerged in several clinical studies as a gene of potential interest in diverse disease contexts. In one study of spinocerebellar ataxia (SCA36), a missense variant (Phe265Leu) in DNAAF9 was identified in the candidate region but did not segregate with disease, suggesting that although it lies within a locus of interest, its direct contribution to neurodegeneration remains uncertain."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In hepatology research, DNAAF9 polymorphisms have been associated with treatment‐related hematological effects in patients with hepatitis C virus infection; notably, specific variants were found to have a protective role against thrombocytopenia during combination therapy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Furthermore, integrated transcriptomic analysis in intrahepatic cholangiocarcinoma identified DNAAF9 among differentially expressed and alternatively spliced genes, pointing to its potential as a therapeutic target in cancer through involvement in complex gene regulatory networks."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings suggest that while the precise molecular function of DNAAF9 remains to be fully elucidated, its emerging associations with neurodegenerative processes, hematological modulation during antiviral therapy, and oncogenic signaling pathways underscore its potential pleiotropic roles in human disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hatasu Kobayashi, Koji Abe, Tohru Matsuura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.05.015"}], "href": "https://doi.org/10.1016/j.ajhg.2011.05.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21683323"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21683323"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Adina Maria Kamal, Paul MitruŢ, Kamal Constantin Kamal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical importance of pharmacogenetics in the treatment of hepatitis C virus infection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Rom J Morphol Embryol (2016)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27833958"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27833958"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jung Hyun Kwon, Si Hyun Bae, Youn Jae Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The virological response in Koreans infected with HCV genotype 1 did not differ between groups treated with a full dose or reduced dose (≥80 % full dose) of peginterferon alfa-2a: a prospective randomized multicenter trial."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatol Int (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12072-013-9472-x"}], "href": "https://doi.org/10.1007/s12072-013-9472-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26202029"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26202029"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yaqing Chen, Dan Liu, Pengfei Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of biomarkers of intrahepatic cholangiocarcinoma via integrated analysis of mRNA and miRNA microarray data."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2017.6123"}], "href": "https://doi.org/10.3892/mmr.2017.6123"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28098904"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28098904"}]}]}]}