"Brazilsk\u00FD p\u0159\u00EDb\u011Bh mutace p53 R337H"@cs . "RIV/00216224:14110/14:00077499" . . "Kopt\u00EDkov\u00E1, Jana" . "0862-495X" . "Brazilian Story of the R337H p53 Mutation"@en . "5783" . "14110" . "\u0160mardov\u00E1, Jana" . "Brazilsk\u00FD p\u0159\u00EDb\u011Bh mutace p53 R337H" . . . "CZ - \u010Cesk\u00E1 republika" . . "8"^^ . "Brazilian Story of the R337H p53 Mutation"@en . . "[FC49AAEA9E1F]" . . "Brazilsk\u00FD p\u0159\u00EDb\u011Bh mutace p53 R337H"@cs . "N\u00E1dorov\u00FD supresor p53 pat\u0159\u00ED k \u201Eevergreen\u016Fm\u201C molekul\u00E1rn\u00ED onkologie. Byl objeven v roce 1979 a od t\u00E9 doby je intenzivn\u011B zkoum\u00E1n. Protein p53 m\u00E1 \u201Epouh\u00FDch\u201C 393 aminokyselinov\u00FDch zbytk\u016F a funkce t\u00E9m\u011B\u0159 ka\u017Ed\u00E9ho jednoho z nich je pe\u010Dliv\u011B prozkouman\u00E1 a zn\u00E1m\u00E1. Somatick\u00E9 mutace se vyskytuj\u00ED v t\u00E9m\u011B\u0159 v\u0161ech kodonech p53, jsou extr\u00E9mn\u011B \u010Dast\u00E9 a vyskytuj\u00ED se t\u00E9m\u011B\u0159 ve v\u0161ech typech n\u00E1dor\u016F. Vrozen\u00E9 mutace p53 jsou vz\u00E1cn\u00E9, ale v\u00FDrazn\u011B penetrantn\u00ED a jsou typicky spojeny s rozvojem \u0161irok\u00E9ho spektra n\u00E1dor\u016F. V roce 2001 v\u0161ak v oblasti v\u00FDzkumu p53 do\u0161lo k ne\u010Dekan\u00E9mu objevu: v ji\u017En\u00ED Braz\u00EDlii byla objevena alela R337H, kter\u00E1 byla zcela netypicky spojena s jedin\u00FDm typem n\u00E1doru \u2013 d\u011Btsk\u00FDm adrenokortik\u00E1ln\u00EDm karcinomem \u2013 a vyzna\u010Dovala se n\u00EDzkou penetranc\u00ED. Nastala doslova honba za dal\u0161\u00EDmi informacemi o fungov\u00E1n\u00ED a d\u016Fsledc\u00EDch mutace R337H. Ta b\u011Bhem n\u011Bkolika m\u00E1lo let p\u0159inesla nejenom spoustu poznatk\u016F o vlastnostech t\u00E9to konkr\u00E9tn\u00ED varianty p53, ale i o obecn\u011Bj\u0161\u00EDch principech fungov\u00E1n\u00ED mutovan\u00FDch variant p53." . . "RIV/00216224:14110/14:00077499!RIV15-MSM-14110___" . . "The p53 tumor suppressor is an evergreen of molecular oncology. Since its discovery in 1979, it has been subjected to intensive investigation. The p53 protein is composed of \u201Eonly\u201C 393 amino acid residues, and function of almost each of them has been addressed in detail. Somatic mutations are extremely frequent, they can be found almost in each of the p53 codons and in all types of tumors. Inherited p53 mutations are rare but very penetrant, and they are typically associated with development of a broad spectrum of tumors. However, in 2001, the p53 research provided an unexpected discovery: the R337H allele was found in southern Brazil. This allele was atypically associated with only one type of tumor \u2013 childhood adrenocortical carcinoma and it exhibited low penetrance. Therefore, new data on functioning and impact of the R337H mutation were highly desired."@en . . "27" . "4" . . . . "Li-Fraumeni syndrome; adrenocortical carcinoma; p53 gene; R337H"@en . "2"^^ . "Brazilsk\u00FD p\u0159\u00EDb\u011Bh mutace p53 R337H" . . "I" . "Klinick\u00E1 onkologie" . . . "N\u00E1dorov\u00FD supresor p53 pat\u0159\u00ED k \u201Eevergreen\u016Fm\u201C molekul\u00E1rn\u00ED onkologie. Byl objeven v roce 1979 a od t\u00E9 doby je intenzivn\u011B zkoum\u00E1n. Protein p53 m\u00E1 \u201Epouh\u00FDch\u201C 393 aminokyselinov\u00FDch zbytk\u016F a funkce t\u00E9m\u011B\u0159 ka\u017Ed\u00E9ho jednoho z nich je pe\u010Dliv\u011B prozkouman\u00E1 a zn\u00E1m\u00E1. Somatick\u00E9 mutace se vyskytuj\u00ED v t\u00E9m\u011B\u0159 v\u0161ech kodonech p53, jsou extr\u00E9mn\u011B \u010Dast\u00E9 a vyskytuj\u00ED se t\u00E9m\u011B\u0159 ve v\u0161ech typech n\u00E1dor\u016F. Vrozen\u00E9 mutace p53 jsou vz\u00E1cn\u00E9, ale v\u00FDrazn\u011B penetrantn\u00ED a jsou typicky spojeny s rozvojem \u0161irok\u00E9ho spektra n\u00E1dor\u016F. V roce 2001 v\u0161ak v oblasti v\u00FDzkumu p53 do\u0161lo k ne\u010Dekan\u00E9mu objevu: v ji\u017En\u00ED Braz\u00EDlii byla objevena alela R337H, kter\u00E1 byla zcela netypicky spojena s jedin\u00FDm typem n\u00E1doru \u2013 d\u011Btsk\u00FDm adrenokortik\u00E1ln\u00EDm karcinomem \u2013 a vyzna\u010Dovala se n\u00EDzkou penetranc\u00ED. Nastala doslova honba za dal\u0161\u00EDmi informacemi o fungov\u00E1n\u00ED a d\u016Fsledc\u00EDch mutace R337H. Ta b\u011Bhem n\u011Bkolika m\u00E1lo let p\u0159inesla nejenom spoustu poznatk\u016F o vlastnostech t\u00E9to konkr\u00E9tn\u00ED varianty p53, ale i o obecn\u011Bj\u0161\u00EDch principech fungov\u00E1n\u00ED mutovan\u00FDch variant p53."@cs . . "2"^^ .