{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T17:02:40Z","timestamp":1778605360857,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,22]],"date-time":"2017-05-22T00:00:00Z","timestamp":1495411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2012\/07\/B\/NZ6\/03524"],"award-info":[{"award-number":["2012\/07\/B\/NZ6\/03524"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE 022597"],"award-info":[{"award-number":["DE 022597"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004569","name":"Ministerstwo Nauki i Szkolnictwa Wy\u017cszego","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004569","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>To establish whether two families from Malopolska and Mazovia provinces in Poland are affected by hereditary gingival fibromatosis type 1, caused by a single\u2010cytosine insertion in exon 21 of the <jats:italic>Son\u2010of\u2010Sevenless\u20101<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and Methods<\/jats:title><jats:p>Six subjects with hereditary gingival fibromatosis and five healthy subjects were enrolled in the study. Gingival biopsies were collected during gingivectomy or tooth extraction and used for histopathological evaluation. Total <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> and genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> were purified from cultured gingival fibroblasts followed by <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> and genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing and analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Hereditary gingival fibromatosis was confirmed by periodontal examination, X\u2010ray, and laboratory tests. Histopathological evaluation showed hyperplastic epithelium, numerous collagen bundles, and abundant\u2010to\u2010moderate fibroblasts in subepithelial and connective tissue. Sequencing of exons 19\u201022 of the <jats:italic>Son\u2010of\u2010Sevenless\u20101<\/jats:italic> gene did not reveal a single\u2010cytosine insertion nor other mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients from two Polish families under study had not been affected by hereditary gingival fibromatosis type 1, caused by a single\u2010cytosine insertion in exon 21 of the <jats:italic>Son\u2010of\u2010Sevenless\u20101<\/jats:italic> gene. Further studies of the remaining regions of this gene as well as of other genes are needed to identify disease\u2010related mutations in these patients. This will help to unravel the pathogenic mechanism of gingival overgrowth.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12684","type":"journal-article","created":{"date-parts":[[2017,4,20]],"date-time":"2017-04-20T09:15:44Z","timestamp":1492679744000},"page":"983-989","source":"Crossref","is-referenced-by-count":13,"title":["Analysis of mutations in the <i><scp>SOS<\/scp>\u20101<\/i> gene in two Polish families with hereditary gingival fibromatosis"],"prefix":"10.1111","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3430-6270","authenticated-orcid":false,"given":"K","family":"Gawron","sequence":"first","affiliation":[{"name":"Department of Microbiology Faculty of Biochemistry Biophysics and Biotechnology Jagiellonian University  Krakow Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Bereta","sequence":"additional","affiliation":[{"name":"Department of Microbiology Faculty of Biochemistry Biophysics and Biotechnology Jagiellonian 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