{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CFAP276 (previously annotated as C1orf194) appears to be a multifunctional protein with important roles in several biological systems. In the peripheral nervous system, mutations in CFAP276 can disturb intracellular Ca²⁺ homeostasis in neurons and Schwann cells, leading to aberrant myelination, axonal atrophy, and neuromuscular impairments characteristic of Charcot‐Marie‐Tooth disease, as demonstrated by both in vitro studies and knockout mouse models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its role in peripheral nerve integrity, CFAP276 has been identified as a fusion partner in central nervous system tumors, implicating it in the oncogenic rearrangements observed in ependymomas."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Furthermore, its dysregulated expression contributes to a gene signature associated with tyrosine kinase inhibitor resistance in clear cell renal cell carcinoma, suggesting that CFAP276 may influence cellular stress responses in tumor biology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, integrative single‐cell transcriptomic analyses of spermatogenesis have identified CFAP276 as a “bridge” gene linking major stages of sperm development, proposing a role in the regulation of male fertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Collectively, these findings indicate that CFAP276 is involved in regulating calcium dynamics in neural tissues, may participate in oncogenic fusion events and cellular resistance pathways, and could also have a key role in reproductive processes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Shun-Chang Sun, Di Ma, Mei-Yi Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awz151"}], "href": "https://doi.org/10.1093/brain/awz151"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31199454"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31199454"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Cheng Huang, Zong Rui Shen, Jin Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddaa129"}], "href": "https://doi.org/10.1093/hmg/ddaa129"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32592472"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32592472"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Thale Kristin Olsen, Ioannis Panagopoulos, Ludmila Gorunova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel fusion genes and chimeric transcripts in ependymal tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.22392"}], "href": "https://doi.org/10.1002/gcc.22392"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27401149"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27401149"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Qinke Li, Wenbo Yang, Maoqing Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a 6-Gene Signature Associated with Resistance to Tyrosine Kinase Inhibitors: Prognosis for Clear Cell Renal Cell Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Monit (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.12659/MSM.927078"}], "href": "https://doi.org/10.12659/MSM.927078"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33296352"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33296352"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Najmeh Salehi, Mohammad Hossein Karimi-Jafari, Mehdi Totonchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Integration and gene co-expression network analysis of scRNA-seq transcriptomes reveal heterogeneity and key functional genes in human spermatogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-021-98267-3"}], "href": "https://doi.org/10.1038/s41598-021-98267-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34580317"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34580317"}]}]}]}