DNA and cell biologyPub Date : 2023-10-01Epub Date: 2023-10-05DOI: 10.1089/dna.2023.29024.csr
{"title":"A Message from the Editor-in-Chief.","authors":"","doi":"10.1089/dna.2023.29024.csr","DOIUrl":"10.1089/dna.2023.29024.csr","url":null,"abstract":"","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"579"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41169034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yi-Lei Lu, Qin Wang, Min Wang, Si-Hua Chang, Ji-Qiang He, Rong Xiang, Ju-Yu Tang, Jie-Yuan Jin
{"title":"Identification of A Novel Variant of <i>Filamin A</i> Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.","authors":"Yi-Lei Lu, Qin Wang, Min Wang, Si-Hua Chang, Ji-Qiang He, Rong Xiang, Ju-Yu Tang, Jie-Yuan Jin","doi":"10.1089/dna.2023.0159","DOIUrl":"10.1089/dna.2023.0159","url":null,"abstract":"<p><p>Developmental dysplasia of the hip (DDH), characterized by acetabular deformity that manifests from loose ligaments to complete dislocation of the hip, can cause notable pain and dysfunction and lead to hip dislocation, secondary fractures, scoliosis, and osteoarthritis of hip. Variants in <i>FLNA</i> may produce a spectrum of malformations in multiple organs, especially the skeleton. This study aimed to identify the genetic etiologies of DDH patients and provide genetic testing information for further diagnosis and treatment of DDH. We recruited a Chinese woman with DDH and her family members. Whole-exome sequencing was used to identify the patient's genetic etiologies. Protein models were used to analyze the pathogenic mechanism of the identified variants. A novel variant (c.3493T>G, p.C1165G) of <i>FLNA</i> was detected. The structural models of the mutant <i>FLNA</i> protein indicated that the variant would lose its sulfhydryl side chain and destroy the attraction between benzene rings and sulfhydryl. We reported a novel variant (c.3493T>G, p.C1165G) of <i>FLNA</i> in a Chinese woman with DDH. Our research outcome enriches the gene pool for hip dysplasia and emphasizes the pathogenicity of sulfhydryl side chain disruption in <i>FLNA</i>.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":"42 10","pages":"638-644"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41242566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
DNA and cell biologyPub Date : 2019-10-01Epub Date: 2019-08-29DOI: 10.1089/dna.2019.4869
Wenbiao Chen, Jingjing Jiang, Peizhong Peter Wang, Lan Gong, Jianing Chen, Weibo Du, Kefan Bi, Hongyan Diao
{"title":"Identifying Hepatocellular Carcinoma Driver Genes by Integrative Pathway Crosstalk and Protein Interaction Network.","authors":"Wenbiao Chen, Jingjing Jiang, Peizhong Peter Wang, Lan Gong, Jianing Chen, Weibo Du, Kefan Bi, Hongyan Diao","doi":"10.1089/dna.2019.4869","DOIUrl":"https://doi.org/10.1089/dna.2019.4869","url":null,"abstract":"<p><p>In this study, we mined out hepatocellular carcinoma (HCC) driver genes from MEDLINE literatures by bioinformatics methods of pathway crosstalk and protein interaction network. Furthermore, the relationship between driver genes and their clinicopathological characteristics, as well as classification effectiveness was verified in the public databases. We identified 560 human genes reported to be associated with HCC in 1074 published articles. Functional analysis revealed that biological processes and biochemical pathways relating to tumor pathogenesis, cancer disease, tumor cell molecule, and hepatic disease were enriched in these genes. Pathway crosstalk analysis indicated that significant pathways could be divided into three modules: cancer disease, virus infection, and tumor signaling pathway. The HCC-related protein-protein interaction network comprised 10,212 nodes, and 56,400 edges were mined out to identify 18 modules corresponding to 14 driver genes. We verified that these 14 driver genes have high classification effectiveness to distinguish cancer samples from normal samples and the classification effectiveness was better than that of randomly selected genes. Present study provided pathway crosstalk and protein interaction network for understanding potential tumorigenesis genes underlying HCC. The 14 driver genes identified from this study are of great translational value in HCC diagnosis and treatment, as well as in clinical study on the pathogenesis of HCC.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":"38 10","pages":"1112-1124"},"PeriodicalIF":0.0,"publicationDate":"2019-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/dna.2019.4869","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41223907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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