{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T04:12:14Z","timestamp":1744863134006,"version":"3.40.4"},"reference-count":56,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,8,4]],"date-time":"2018-08-04T00:00:00Z","timestamp":1533340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001845","name":"Science for Equity, Empowerment and Development Division","doi-asserted-by":"publisher","award":["12927\/2018"],"award-info":[{"award-number":["12927\/2018"]}],"id":[{"id":"10.13039\/501100001845","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gene polymorphism among humans is one of the factors governing individual\u2019s susceptibility and resistance to various diseases including cancer. DNA repair enzymes play an important role in protecting our genome from various mutagens and preventing cancer. The role of DNA repair enzyme Apurinic\/Apyrimidinic endodeoxyribonuclease 1 (<jats:italic>Apex 1)<\/jats:italic> in cancer has been very well documented. Using genomic DNA, <jats:italic>Apex 1<\/jats:italic> coding region of 76 patients (n\u2009=\u200976) with head and neck cancer were amplified and sequenced to detect variations in the sequence. Of 76 patients, 1 patient with heterozygous novel <jats:italic>Apex 1<\/jats:italic> variant (Glu87Gln) was identified. A comparative analysis of wild type and variant protein using in silico approach was performed to understand the difference in the structure and the function. This further revealed that the variant had a slight impact on the structure, which affected the stability and function of the protein. Using the state\u2010of\u2010the\u2010art Molecular dynamic simulation analysis, we observed a loss in number of hydrogen bonds and salt bridge with a substitution of Gln for Glu at Position 87. This could be a possible reason behind the loss of stability\/function of the protein. This study revealed a new variant of the <jats:italic>Apex 1<\/jats:italic> gene; further studies will lead to the novel roles played by the variant <jats:italic>Apex 1<\/jats:italic> protein in cause, disease progression, and response to the treatment in patients with cancer with Glu87Gln variant.<\/jats:p>","DOI":"10.1002\/jcb.27138","type":"journal-article","created":{"date-parts":[[2018,8,7]],"date-time":"2018-08-07T06:36:23Z","timestamp":1533623783000},"page":"8851-8861","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of novel heterozygous <i>Apex 1<\/i> gene variant (Glu87Gln) in patients with\u00a0head and neck cancer of Indian origin"],"prefix":"10.1002","volume":"119","author":[{"given":"R","family":"Abarna","sequence":"first","affiliation":[{"name":"School of Biosciences Vellore Institute of Technology (VIT)  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debnarayan","family":"Dutta","sequence":"additional","affiliation":[{"name":"Radiation Oncology Apollo Hospitals  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Sneha","sequence":"additional","affiliation":[{"name":"School of Biosciences Vellore Institute of Technology (VIT)  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"George Priya Doss","sequence":"additional","affiliation":[{"name":"School of Biosciences Vellore Institute of Technology (VIT)  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8997-8093","authenticated-orcid":false,"given":"M","family":"Anbalagan","sequence":"additional","affiliation":[{"name":"School of Biosciences Vellore Institute of Technology (VIT)  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,4]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_1_2_1","DOI":"10.1007\/BF02705154"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_3_1","DOI":"10.3322\/canjclin.57.1.43"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_4_1","DOI":"10.1002\/ijc.2910410205"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_5_1","DOI":"10.5041\/RMMJ.10143"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_6_1","DOI":"10.5005\/jp-journals-10001-1132"},{"key":"e_1_2_8_1_7_1","first-page":"845","article-title":"Prevalence of oral cancer in India","volume":"7","author":"Varshitha A","year":"2015","journal-title":"Pharm Sci Res"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_8_1","DOI":"10.3389\/fgene.2015.00157"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_9_1","DOI":"10.1667\/RR13515.1"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_10_1","DOI":"10.1534\/genetics.112.145219"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_11_1","DOI":"10.1093\/nar\/gki266"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_12_1","DOI":"10.1016\/j.jmb.2011.06.050"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_13_1","DOI":"10.1016\/S0921\u20108777(00)00046\u2010X"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_14_1","DOI":"10.1128\/MCB.00244\u201008"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_15_1","DOI":"10.1089\/ars.2009.2698"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_16_1","DOI":"10.1158\/1535-7163.679.3.6"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_17_1","DOI":"10.1007\/s12041-012-0193-z"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_18_1","DOI":"10.1093\/carcin\/bgh058"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_19_1","DOI":"10.1002\/ijc.21117"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_20_1","DOI":"10.1093\/mutage\/17.6.463"},{"key":"e_1_2_8_1_21_1","first-page":"217","article-title":"Polymorphisms in the DNA repair gene XRCC1 and breast cancer","volume":"10","author":"Duell EJ","year":"2001","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_22_1","DOI":"10.1371\/journal.pone.0083527"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_23_1","DOI":"10.1007\/s11011-017-0090-5"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_24_1","DOI":"10.1007\/s11011-016-9796-z"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_25_1","DOI":"10.1007\/s11011-016-9896-9"},{"issue":"16","key":"e_1_2_8_1_26_1","first-page":"3105","article-title":"Genotype\u2013phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants","volume":"26","author":"Zaki OK","year":"2017","journal-title":"Hum Mol Gen"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_27_1","DOI":"10.1016\/j.gene.2015.02.009"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_28_1","DOI":"10.1371\/journal.pone.0188143"},{"issue":"5","key":"e_1_2_8_1_29_1","doi-asserted-by":"crossref","first-page":"e0153999","DOI":"10.1371\/journal.pone.0153999","article-title":"A comprehensive In Silico analysis on the structural and functional impact of SNPs in the congenital heart defects associated with NKX2\u20105 gene\u2014A molecular dynamic simulation approach","volume":"11","author":"Samad FA","year":"2016","journal-title":"PLoS One"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_30_1","DOI":"10.1093\/nar\/25.22.4692"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_31_1","DOI":"10.1002\/0471142905.hg0720s76"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_32_1","DOI":"10.1093\/nar\/gki372"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_33_1","DOI":"10.1093\/nar\/gki375"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_34_1","DOI":"10.1093\/nar\/gkl190"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_35_1","DOI":"10.1186\/1471\u20102164\u201011\u2010S2\u2010S5"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_36_1","DOI":"10.1038\/35000249"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_37_1","DOI":"10.1002\/elps.1150181505"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_38_1","DOI":"10.1093\/bioinformatics\/btt055"},{"unstructured":"2005 Oregon Graduate Institute of Science and Technology Beaverton OR PJ Turner XMGRACE (version 5.1.19). Beaverton: Center for Coastal and Land\u2010margin Research","key":"e_1_2_8_1_39_1"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_40_1","DOI":"10.7555\/JBR.27.20130034"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_41_1","DOI":"10.1093\/carcin\/bgh153"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_42_1","DOI":"10.1007\/s12032-013-0505-z"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_43_1","DOI":"10.1155\/2015\/869512"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_44_1","DOI":"10.1590\/1678-4685-gmb-2017-0039"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_45_1","DOI":"10.1089\/dna.2009.0969"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_46_1","DOI":"10.1007\/s13277-015-3472-5"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_47_1","DOI":"10.1007\/s11011-017-0121-2"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_48_1","DOI":"10.1007\/s11011-017-0006-4"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_49_1","DOI":"10.1007\/s11011-016-9879-x"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_50_1","DOI":"10.1016\/bs.apcsb.2015.09.004."},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_51_1","DOI":"10.1016\/j.jmgm.2010.12.002"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_52_1","DOI":"10.1134\/S0026893308040195"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_53_1","DOI":"10.1002\/pro.2449"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_54_1","DOI":"10.1016\/S0014-5793(02)02639-X"},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_55_1","DOI":"10.1038\/srep37284."},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_56_1","DOI":"10.1016\/bs.apcsb.2017.08.002."},{"doi-asserted-by":"publisher","key":"e_1_2_8_1_57_1","DOI":"10.1080\/07391102.2016.1229634."}],"container-title":["Journal of Cellular Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcb.27138","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcb.27138","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcb.27138","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcb.27138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T15:56:51Z","timestamp":1744819011000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcb.27138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,4]]},"references-count":56,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/jcb.27138"],"URL":"https:\/\/doi.org\/10.1002\/jcb.27138","archive":["Portico"],"relation":{},"ISSN":["0730-2312","1097-4644"],"issn-type":[{"type":"print","value":"0730-2312"},{"type":"electronic","value":"1097-4644"}],"subject":[],"published":{"date-parts":[[2018,8,4]]},"assertion":[{"value":"2017-11-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}