"14110" . . "4"^^ . "RIV/00216224:14110/09:00035139" . "Papillon-Lefevre syndrom (PLS) je vz\u00E1cn\u00E9, autozom\u00E1ln\u011B recesivn\u00ED onemocn\u011Bn\u00ED, u kter\u00E9ho nal\u00E9z\u00E1me z\u00E1va\u017Enou destrukci parodont\u00E1ln\u00EDch tk\u00E1n\u00ED, postihuj\u00EDc\u00ED jak do\u010Dasnou, tak i st\u00E1lou dentici, spolu s ko\u017En\u00EDmi zm\u011Bnami charakteru palmoplant\u00E1rn\u00ED hyperkerat\u00F3zy. V patogenezi PLS se p\u0159edpokl\u00E1d\u00E1 d\u016Fle\u017Eit\u00E1 \u00FAloha mutac\u00ED v genu pro katepsin C (CTSC). C\u00EDlem na\u0161\u00ED pr\u00E1ce bylo analyzovat tento gen u \u010Desk\u00E9ho pacienta s podez\u0159en\u00EDm na onemocn\u011Bn\u00ED PLS a dal\u0161\u00EDch \u010Dlen\u016F jeho rodiny."@cs . "[70EE8A141F58]" . . "Sazmov\u00E1, V\u011Bra" . . "Praktick\u00E9 zubn\u00ED l\u00E9ka\u0159stv\u00ED" . "Papillon-Lefevre syndrome: case report"@en . "Papillon-Lefevre syndrom: kazuistika"@cs . "Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by severe early-onset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). The aim of this study was analyzed the CTST gene in one Czech family with PLS."@en . . . "Izakovi\u010Dov\u00E1-Holl\u00E1, Lydie" . . "Kukletov\u00E1, Martina" . . "RIV/00216224:14110/09:00035139!RIV10-MZ0-14110___" . . . . "Papillon-Lefevre syndrom: kazuistika" . "P(1M0528), P(NR9129)" . "3" . "332603" . "Fassmann, Anton\u00EDn" . "Papillon-Lefevre syndrom: kazuistika"@cs . . . . . "Papillon-Lefevre syndrom (PLS) je vz\u00E1cn\u00E9, autozom\u00E1ln\u011B recesivn\u00ED onemocn\u011Bn\u00ED, u kter\u00E9ho nal\u00E9z\u00E1me z\u00E1va\u017Enou destrukci parodont\u00E1ln\u00EDch tk\u00E1n\u00ED, postihuj\u00EDc\u00ED jak do\u010Dasnou, tak i st\u00E1lou dentici, spolu s ko\u017En\u00EDmi zm\u011Bnami charakteru palmoplant\u00E1rn\u00ED hyperkerat\u00F3zy. V patogenezi PLS se p\u0159edpokl\u00E1d\u00E1 d\u016Fle\u017Eit\u00E1 \u00FAloha mutac\u00ED v genu pro katepsin C (CTSC). C\u00EDlem na\u0161\u00ED pr\u00E1ce bylo analyzovat tento gen u \u010Desk\u00E9ho pacienta s podez\u0159en\u00EDm na onemocn\u011Bn\u00ED PLS a dal\u0161\u00EDch \u010Dlen\u016F jeho rodiny." . . . "Papillon-Lefevre syndrome: case report"@en . "Papillon-Lefevre syndrom: kazuistika" . . . "1213-0613" . . "3"^^ . "Papillon-Lefevre syndrome; hyperkeratosis; periodontitis; gene; mutation; cathepsin C"@en . "CZ - \u010Cesk\u00E1 republika" . "6"^^ . . . "57" .