<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome"^^ . "Papillon–Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients."^^ . "2016" . . . "283" . "3" . . "FEBS Journal"^^ . . . "1742464X" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "Peter"^^ . "Eickholz"^^ . "Peter Eickholz"^^ . . "Shivanna"^^ . "Ragunatha"^^ . "Shivanna Ragunatha"^^ . . "Brice"^^ . "Korkmaz"^^ . "Brice Korkmaz"^^ . . "Ali"^^ . "Kord Valeshabad"^^ . "Ali Kord Valeshabad"^^ . . "Salih"^^ . "Kavukcu"^^ . "Salih Kavukcu"^^ . . "Karina"^^ . "Acrich"^^ . "Karina Acrich"^^ . . "Yang"^^ . "Liu"^^ . "Yang Liu"^^ . . "Celia"^^ . "Moss"^^ . "Celia Moss"^^ . . "Lise"^^ . "Vanderlynden"^^ . "Lise Vanderlynden"^^ . . "Patricia"^^ . "Fergelot"^^ . "Patricia Fergelot"^^ . . "Maurizio"^^ . "Battino"^^ . "Maurizio Battino"^^ . . "Elodie"^^ . "Kara"^^ . "Elodie Kara"^^ . . "Katalin"^^ . "Farkas"^^ . "Katalin Farkas"^^ . . "Xinwen"^^ . "Wang"^^ . "Xinwen Wang"^^ . . "Fanny"^^ . "Morice-Picard"^^ . "Fanny Morice-Picard"^^ . . "Monika"^^ . "Legowska"^^ . "Monika Legowska"^^ . . "Dieter E."^^ . "Jenne"^^ . "Dieter E. Jenne"^^ . . "Francis"^^ . "Gauthier"^^ . "Francis Gauthier"^^ . . "Charalampos"^^ . "Tsamakis"^^ . "Charalampos Tsamakis"^^ . . "Nikoletta"^^ . "Nagy"^^ . "Nikoletta Nagy"^^ . . "Sevil"^^ . "Korkmaz-Icöz"^^ . "Sevil Korkmaz-Icöz"^^ . . "Yveline"^^ . "Hamon"^^ . "Yveline Hamon"^^ . . "Louise"^^ . "Newell"^^ . "Louise Newell"^^ . . "Sylvain"^^ . "Marchand-Adam"^^ . "Sylvain Marchand-Adam"^^ . . "Antonia"^^ . "Vlahou"^^ . "Antonia Vlahou"^^ . . "Cyril"^^ . "Goizet"^^ . "Cyril Goizet"^^ . . "Alain"^^ . "Taieb"^^ . "Alain Taieb"^^ . . "Márta"^^ . "Széll"^^ . "Márta Széll"^^ . . "Beate"^^ . "Schacher"^^ . "Beate Schacher"^^ . . "Adam"^^ . "Lesner"^^ . "Adam Lesner"^^ . . "Karen"^^ . "David"^^ . "Karen David"^^ . . "Ian"^^ . "Surplice"^^ . "Ian Surplice"^^ . . "Jerome"^^ . "Zoidakis"^^ . "Jerome Zoidakis"^^ . . "Sandrine"^^ . "Dallet-Choisy"^^ . "Sandrine Dallet-Choisy"^^ . . "Abdullah"^^ . "Al Farraj Aldosari"^^ . "Abdullah Al Farraj Aldosari"^^ . . "Hadi"^^ . "Kord"^^ . "Hadi Kord"^^ . . . . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome (Texto)"^^ . . . . . "The FEBS Journal - 2015 - Hamon - Analysis of urinary cathepsin C for diagnosing Papillon Lef vre syndrome.pdf"^^ . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome (Otro)"^^ . . . . . . "indexcodes.txt"^^ . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome (Otro)"^^ . . . . . . "lightbox.jpg"^^ . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome (Otro)"^^ . . . . . . "preview.jpg"^^ . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome (Otro)"^^ . . . . . . "medium.jpg"^^ . . . "Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome (Otro)"^^ . . . . . . "small.jpg"^^ . . "HTML Summary of #579 \n\nAnalysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome\n\n" . "text/html" . . . "Biomedicine"@en . "Biomedicina"@es . .