ReviewMolecular genetics & genomic medicine2014
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
Review in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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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.
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Who cites it
24 citing papers in PubMed, 57 citations in OpenAlex.
- Epithelial desquamation observed in a phase I study of an oral cathepsin C inhibitor (GSK2793660).British journal of clinical pharmacology · 2017Trial
- A pan-cancer analysis of CTSC as a candidate prognostic and immune-related biomarker.Discover oncology · 2025Article
- Broadening Horizons: Exploring the Cathepsin Family as Therapeutic Targets for Alzheimer's Disease.Aging and disease · 2024Review
- The oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members.BMC oral health · 2024Article
- Subsiding of Periodontitis in the Permanent Dentition in Individuals with Papillon-Lefèvre Syndrome through Specific Periodontal Treatment: A Systematic Review.Healthcare (Basel, Switzerland) · 2022Article
- A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.Clinical and experimental dental research · 2021Article
- Novel Compound Heterozygous Mutations inAnnals of dermatology · 2021Article
- Oral rehabilitation of Papillon-Lefèvre syndrome patients by dental implants: a systematic review.Journal of the Korean Association of Oral and Maxillofacial Surgeons · 2020Review
- Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.Molecular biology reports · 2020Article
- Missense Mutations in theAnnals of dermatology · 2020Article
- Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.Frontiers in immunology · 2020Review
- Processing and Maturation of Cathepsin C Zymogen: A Biochemical and Molecular Modeling Analysis.International journal of molecular sciences · 2019Article
- Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.Journal of human genetics · 2019Article
- Clipped histone H3 is integrated into nucleosomes of DNA replication genes in the human malaria parasiteEMBO reports · 2019Article
- Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.Molecular genetics & genomic medicine · 2019Article
- [Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2019Article
- Cathepsins: Proteases that are vital for survival but can also be fatal.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2018Review
- Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.The Journal of biological chemistry · 2018Article
- Salivary Tick Cystatin OmC2 Targets Lysosomal Cathepsins S and C in Human Dendritic Cells.Frontiers in cellular and infection microbiology · 2017Article
- Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.Saudi journal of biological sciences · 2016Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Papillon-Lefèvre syndrome (PLS; OMIM 245000) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. In 1997, the gene locus for PLS was mapped to 11q14-21, and in 1999, variants in the cathepsin C gene (CTSC) were identified as causing PLS. To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A summary of recurrent mutations identified in Hungarian patients and a review of published mutations is presented in this update. Comparison of clinical features in affected families with the same mutation strongly confirm that identical mutations of the CTSC gene can give rise to multiple different phenotypes, making genotype-phenotype correlations difficult. Variable expression of the phenotype associated with the same CTSC mutation may reflect the influence of other genetic and/or environmental factors. Most mutations are missense (53%), nonsense (23%), or frameshift (17%); however, in-frame deletions, one splicing variant, and one 5' untranslated region (UTR) mutation have also been reported. The majority of the mutations are located in exons 5-7, which encodes the heavy chain of the cathepsin C protein, suggesting that tetramerization is important for cathepsin C enzymatic activity. All the data reviewed here have been submitted to the CTSC base, a mutation registry for PLS at http://bioinf.uta.fi/CTSCbase/.
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