{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Chromosome 22 open reading frame 34 (C22orf34) is a protein‐coding gene whose precise biological function remains to be fully characterized. Although several studies have primarily focused on other aspects of stem cell reprogramming, neurodevelopmental disorders, endometrial receptivity, and cancer risk (e.g"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": ", genetic association studies have recently implicated C22orf34 in modulating disease susceptibility. In one study examining drug‐induced interstitial lung disease (DIILD), a single nucleotide variant (SNV) located in intron 1 of C22orf34 was identified as a candidate marker associated with an increased risk of DIILD in cancer patients undergoing chemotherapy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In another investigation using a genome‐wide association approach to assess intestinal permeability in healthy individuals, a top association was mapped to C22orf34, where the presence of a minor allele was linked to decreased lactulose mannitol ratios, suggesting a potential role for this gene in regulating epithelial barrier function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, given that deletions in the distal region of chromosome 22 (22q13.3) are known to contribute to neurodevelopmental and somatic phenotypes in syndromes such as Phelan McDermid syndrome"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", it is plausible that loss or disruption of C22orf34 in this region might also be associated with aspects of the diverse clinical manifestations observed in these disorders. Although its mechanistic role has yet to be established, the emerging associations with both epithelial barrier regulation and adverse drug effects underscore the potential importance of C22orf34 in modulating susceptibility to complex conditions.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while C22orf34 has not been functionally characterized in depth, current genetic association data suggest that variations in this gene may contribute to the risk of DIILD and influence intestinal barrier integrity. Further functional studies are warranted to elucidate the exact mechanisms by which C22orf34 affects these diverse biological processes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Aline C Planello, Junfeng Ji, Vivek Sharma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant DNA methylation reprogramming during induced pluripotent stem cell generation is dependent on the choice of reprogramming factors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Regen (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/2045-9769-3-4"}], "href": "https://doi.org/10.1186/2045-9769-3-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25408883"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25408883"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "I Görker, H Gürkan, S Demir Ulusal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Balkan J Med Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1515/bjmg-2016-0041"}], "href": "https://doi.org/10.1515/bjmg-2016-0041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28289594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28289594"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Andrew R Mitz, Travis J Philyaw, Luigi Boccuto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41431-017-0042-x"}], "href": "https://doi.org/10.1038/s41431-017-0042-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29358616"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29358616"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Chun Feng, Jin-Ming Shen, Ping-Ping Lv, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Construction of implantation failure related lncRNA-mRNA network and identification of lncRNA biomarkers for predicting endometrial receptivity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijbs.25081"}], "href": "https://doi.org/10.7150/ijbs.25081"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30123082"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30123082"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Alice Blandino, Dominique Scherer, Trine B Rounge, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of Circulating lncRNAs Associated with Gallbladder Cancer Risk by Tissue-Based Preselection, Cis-eQTL Validation, and Analysis of Association with Genotype-Based Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancers (Basel) (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/cancers14030634"}], "href": "https://doi.org/10.3390/cancers14030634"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35158906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35158906"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Chihiro Udagawa, Hidehito Horinouchi, Kouya Shiraishi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole genome sequencing to identify predictive markers for the risk of drug-induced interstitial lung disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0223371"}], "href": "https://doi.org/10.1371/journal.pone.0223371"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31584970"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31584970"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Williams Turpin, Osvaldo Espin-Garcia, Larbi Bedrani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of Genetic Association of Intestinal Permeability in Healthy First-degree Relatives of Patients with Crohn's Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Inflamm Bowel Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/ibd/izz116"}], "href": "https://doi.org/10.1093/ibd/izz116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31251335"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31251335"}]}]}]}