ArticleClinical and experimental dental research2021
A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.
Article in Clinical and experimental dental research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases.Cell and tissue research · 2026Review
- Cathepsin C in health and disease: from structural insights to therapeutic prospects.Journal of translational medicine · 2024Review
- Potential correlation between chronic periodontitis and Parkinson's disease.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2024Article
- The first case report of Haim Munk disease with neurological manifestations and literature review.Clinical case reports · 2021Article
- A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.Clinical and experimental dental research · 2021Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesIn this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. MATERIALS AND
methodsGenomic 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-Prot server. The results were also analyzed for to verify its validity.
resultsThe 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.
conclusionsThe structural analysis of the mutated protein model identifies changes in the stereo-chemical 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.
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