Evidence map›Paper›PMID 28425619›Full record

ArticleOral diseases2017

Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.

K Gawron, G Bereta, Z Nowakowska, K Łazarz-Bartyzel, J Potempa, M Chomyszyn-Gajewska, R Górska, P Plakwicz

Open access · greenAbstract read
In one paragraph

Article in Oral diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
4.6field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Pathogenicity ofFrontiers in cellular and infection microbiology · 2026
    Article
  3. Gene-repaired iPS cells as novel approach for patient withFrontiers in bioengineering and biotechnology · 2023
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Journal of Indian Society of Periodontology
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 2 countries.

K GawronDepartment of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.ORCID http://orcid.org/0000-0003-3430-6270
G BeretaDepartment of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.
Z NowakowskaDepartment of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.
K Łazarz-BartyzelDepartment of Periodontology and Oral Medicine, Medical College, Institute of Dentistry, Jagiellonian University, Krakow, Poland.
J PotempaDepartment of Microbiology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.
M Chomyszyn-GajewskaDepartment of Periodontology and Oral Medicine, Medical College, Institute of Dentistry, Jagiellonian University, Krakow, Poland.
R GórskaDepartment of Periodontology, Medical University of Warsaw, Warsaw, Poland.
P PlakwiczDepartment of Periodontology, Medical University of Warsaw, Warsaw, Poland.
Jagiellonian University · PLMedical University of Warsaw · PL

Funding

Bacterial peptidylarginine deiminase, a link between gums and joint diseaseR01DE022597 · NIDCR · UNIVERSITY OF LOUISVILLE · PI POTEMPA, JAN S · 2013 to 2023
$3.7M
NIDCR NIH HHS R01 DE022597
6 · The paper itself

Abstract

objectivesTo establish whether two families from Malopolska and Mazovia provinces in Poland are affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. MATERIAL AND

methodsSix 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 RNA and genomic DNA were purified from cultured gingival fibroblasts followed by cDNA and genomic DNA sequencing and analysis.

resultsHereditary gingival fibromatosis was confirmed by periodontal examination, X-ray, and laboratory tests. Histopathological evaluation showed hyperplastic epithelium, numerous collagen bundles, and abundant-to-moderate fibroblasts in subepithelial and connective tissue. Sequencing of exons 19-22 of the Son-of-Sevenless-1 gene did not reveal a single-cytosine insertion nor other mutations.

conclusionsPatients from two Polish families under study had not been affected by hereditary gingival fibromatosis type 1, caused by a single-cytosine insertion in exon 21 of the Son-of-Sevenless-1 gene. Further studies of the remaining regions of this gene as well as of other genes are needed to identify disease-related mutations in these patients. This will help to unravel the pathogenic mechanism of gingival overgrowth.

Indexed as

AdolescentAdultChildDNA Mutational AnalysisExonsFemaleFibromatosis, GingivalHumansMaleMutationPedigreePolandSOS1 ProteinSOS1 Proteinhereditary gingival fibromatosisheterogeneitymutationpedigreeSOS-1

Identifiers

PMID28425619
PMCPMC5591049
OpenAlexW2606525925

What OpenQuestion holds

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LicenceTDM
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.