{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T16:27:08Z","timestamp":1773073628449,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,4,15]],"date-time":"2019-04-15T00:00:00Z","timestamp":1555286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2017R1D1A1B03031750"],"award-info":[{"award-number":["2017R1D1A1B03031750"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2018R1A2B6002657"],"award-info":[{"award-number":["2018R1A2B6002657"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Hereditary gingival fibromatosis (HGF) is a rare oral disease characterized by either localized or generalized gradual, benign, non\u2010hemorrhagic enlargement of gingivae. Although several genetic causes of HGF are known, the genetic etiology of HGF as a non\u2010syndromic and idiopathic entity remains uncertain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and methods<\/jats:title><jats:p>We performed exome and RNA\u2010seq of idiopathic HGF patients and controls, and then devised a computational framework that specifies exomic\/transcriptomic alterations interconnected by a regulatory network to unravel genetic etiology of HGF. Moreover, given the lack of animal model or large\u2010scale cohort data of HGF, we developed a strategy to cross\u2010check their clinical relevance through in silico gene\u2013phenotype mapping with biomedical literature mining and semantic analysis of disease phenotype similarities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exomic variants and differentially expressed genes of HGF were connected by members of TGF\u2010\u03b2\/SMAD signaling pathway and craniofacial development processes, accounting for the molecular mechanism of fibroblast overgrowth mimicking HGF. Our cross\u2010check supports that genes derived from the regulatory network analysis have pathogenic roles in fibromatosis\u2010related diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The computational approach of connecting exomic and transcriptomic alterations through regulatory networks is applicable in the clinical interpretation of genetic variants in HGF patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.13093","type":"journal-article","created":{"date-parts":[[2019,3,25]],"date-time":"2019-03-25T11:50:22Z","timestamp":1553514622000},"page":"1374-1383","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Exomic and transcriptomic alterations of hereditary gingival fibromatosis"],"prefix":"10.1111","volume":"25","author":[{"given":"Seong Kyu","family":"Han","sequence":"first","affiliation":[{"name":"Department of Life Sciences Pohang University of Science and Technology Pohang Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jungho","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Life Sciences Pohang University of Science and Technology Pohang Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanguk","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Life Sciences Pohang University of Science and Technology Pohang Korea"},{"name":"Department of Prosthodontics, College of Dentistry Yonsei University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2281-8885","authenticated-orcid":false,"given":"Jae\u2010Hoon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, College of Dentistry Yonsei University Seoul 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