{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T11:38:04Z","timestamp":1772624284782,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T00:00:00Z","timestamp":1613260800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical &amp; Exp Dental Res"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for homology modeling. The homology modeling of the novel mutation was then performed using the online Swiss\u2010Prot server. The results were also analyzed for to verify its validity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The analysis of CTSC gene elucidated a novel insertion GAC. The novel mutation was proved by analyzing 50 healthy control volunteers. Modeling of the novel found mutation in CTSC gene revealed structural defects that may have caused the functional abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The structural analysis of the mutated protein model identifies changes in the stereo\u2010chemical and the energy level of the mutated protein. Since this protein play a role in the activation of granule serine proteases from cytotoxic T lymphocytes, natural killer cells, mast cells, such structural defects may lead to its malfunction causing dysfunctioning of immune defense mechanisms.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cre2.387","type":"journal-article","created":{"date-parts":[[2021,2,17]],"date-time":"2021-02-17T14:01:41Z","timestamp":1613570501000},"page":"568-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel mutation in the cathepsin C (<scp>CTSC)<\/scp>gene in Iranian family with<scp>Papillon\u2010Lefevre<\/scp>syndrome"],"prefix":"10.1002","volume":"7","author":[{"given":"Mahmoud","family":"Ghanei","sequence":"first","affiliation":[{"name":"Medical Genetics and Molecular Medicine Department Medical school, Mashhad University of Medical Sciences Mashhad Iran"},{"name":"Medical Genetics Research Center, Medical School Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad R.","family":"Abbaszadegan","sequence":"additional","affiliation":[{"name":"Medical Genetics and Molecular Medicine Department Medical school, Mashhad University of Medical Sciences Mashhad Iran"},{"name":"Medical Genetics Research Center, Medical School Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad M.","family":"Forghanifard","sequence":"additional","affiliation":[{"name":"Department of Biology, Damghan Branch Islamic Azad University Damghan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azadeh","family":"Aarabi","sequence":"additional","affiliation":[{"name":"Human Genetics Division Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0910-3201","authenticated-orcid":false,"given":"Hamidreza","family":"Arab","sequence":"additional","affiliation":[{"name":"Dental Research Center, School of Dentistry Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.1.e85"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti770"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku340"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000249491"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1902\/jop.2002.73.3.307"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9243"},{"issue":"4","key":"e_1_2_9_8_1","first-page":"241","article-title":"HLA class I gene polymorphism in Iranian patients with Papillon\u2010Lefevre syndrome","volume":"4","author":"Farjadian S.","year":"2007","journal-title":"Iranian Journal of Immunology"},{"issue":"3","key":"e_1_2_9_9_1","first-page":"171","article-title":"Analysis of human leukocyte antigen class II gene polymorphism in Iranian patients with Papillon\u2010Lefevre syndrome: A family study","volume":"5","author":"Farjadian S.","year":"2008","journal-title":"Iranian Journal of Immunology"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-013-1323-z"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80014-7"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.2.81"},{"key":"e_1_2_9_13_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin R. 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