{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ARL6IP6 is emerging as a multifunctional protein implicated in both vascular and cellular homeostasis. Genetic studies have identified variants in ARL6IP6 that are associated with cerebrovascular phenotypes. For example, a homozygous truncating mutation in ARL6IP6 was implicated in a syndromic form of cutis marmorata telangiectatica congenita featuring major dysmorphism, developmental delay, transient ischemic attacks, and cerebral vascular malformations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, its association with early‐onset ischemic stroke was detected in a genome‐wide association study that identified an intronic SNP in ARL6IP6 as one of the strongest risk factors, suggesting that even subtle changes in ARL6IP6 function may predispose to stroke."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its role in vascular pathophysiology, ARL6IP6 appears to be involved in cellular homeostasis pathways. Its expression is elevated in cumulus cells from older mares compared with those from younger animals, implying that changes in ARL6IP6 levels may be linked to age‐related declines in oocyte quality."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Post‐transcriptional regulation of ARL6IP6 has also been observed during immune challenges; in pigs, ARL6IP6 is a target of miR‐26, hinting at a potential role in modulating inflammatory responses during Salmonella infection."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, proteomic analyses have localized ARL6IP6 to the inner nuclear membrane in mesenchymal cell types such as adipocytes and myocytes, suggesting that it may be involved in nuclear envelope organization and nucleocytoplasmic signaling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Together, these findings indicate that ARL6IP6 may function at the intersection of vascular biology, cellular aging, and immune regulation, although its precise mechanistic roles remain to be fully elucidated.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Iman S Abumansour, Hadia Hijazi, Anas Alazmi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-015-1561-6"}], "href": "https://doi.org/10.1007/s00439-015-1561-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25957586"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25957586"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yu-Ching Cheng, Jeffrey R O'Connell, John W Cole, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association analysis of ischemic stroke in young adults."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "G3 (Bethesda) (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1534/g3.111.001164"}], "href": "https://doi.org/10.1534/g3.111.001164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22384361"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22384361"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lindsay Cox, Dirk K Vanderwall, Kate C Parkinson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression profiles of select genes in cumulus-oocyte complexes from young and aged mares."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Reprod Fertil Dev (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1071/RD14446"}], "href": "https://doi.org/10.1071/RD14446"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25976356"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25976356"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Min Yao, Weihua Gao, Hengxun Tao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation signature of miR-143 and miR-26 in porcine Salmonella infection identified by binding site enrichment analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00438-015-1146-z"}], "href": "https://doi.org/10.1007/s00438-015-1146-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26589421"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26589421"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Li-Chun Cheng, Sabyasachi Baboo, Cory Lindsay, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of new transmembrane proteins concentrated at the nuclear envelope using organellar proteomics of mesenchymal cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleus (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/19491034.2019.1618175"}], "href": "https://doi.org/10.1080/19491034.2019.1618175"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31142202"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31142202"}]}]}]}