{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Among the diverse proteins and pathways studied in these abstracts, one investigation specifically identified a novel vascular susceptibility gene: CBY2 (Chibby family member 2). In a study of a Japanese pedigree with highly aggregated intracranial aneurysms, CBY2 was implicated when a missense variant (p.P83T) was found to co‐segregate with the disease. Overexpression studies of the mutant CBY2 protein revealed a tendency for cytoplasmic aggregation, and further expression analyses demonstrated that CBY2 is localized in cerebrovascular smooth muscle cells in an isoform2‐specific manner. In addition, targeted re‐sequencing identified other deleterious rare variants in CBY2 that were significantly enriched in patients compared to controls, suggesting that CBY2 normally plays a critical role in vascular integrity or related signaling pathways, and that its impaired function may predispose to intracranial aneurysm formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Tatsuya Maegawa, Hiroyuki Akagawa, Hideaki Onda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0265359"}], "href": "https://doi.org/10.1371/journal.pone.0265359"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35299232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35299232"}]}]}]}