. "Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations."@en . "Juvenile polyposis syndrome"@en . . "RIV/00209805:_____/12:#0000320" . . . "Juveniln\u00FD polyp\u00F3zny syndr\u00F3m" . "Juveniln\u00FD polyp\u00F3zny syndr\u00F3m (JPS) je autozom\u00E1lne dominantn\u00E9 ochorenie, charakterizovan\u00E9 v\u00FDskytom juveniln\u00FDch polypov a predispoz\u00EDciou k n\u00E1dorom gastrointestin\u00E1lneho traktu (GIT). Typick\u00FDm znakom juveniln\u00FDch polypov, ktor\u00FD absentuje u in\u00FDch syndr\u00F3mov s predispoz\u00EDciou ku kolorekt\u00E1lnym karcin\u00F3mom, s\u00FA cysticky dilatovan\u00E9 \u017Eliazky vyplnen\u00E9 mucin\u00F3znym sekr\u00E9tom. Kauz\u00E1lnou pr\u00ED\u010Dinou vzniku tohto ochorenia s\u00FA z\u00E1rodo\u010Dn\u00E9 mut\u00E1cie g\u00E9nov SMAD4 a BMPR1A, ktor\u00E9 mo\u017Eno n\u00E1js\u0165 a\u017E u 40 % pacientov s JPS. Heredit\u00E1rna hemoragick\u00E1 teleangiekt\u00E1zia (HHT) a vy\u0161\u0161ia frekvencia polypov v \u017Eal\u00FAdku je sp\u00E1jan\u00E1 hlavne s mut\u00E1ciami g\u00E9nu SMAD4." . . "Klinick\u00E1 onkologie" . "2"^^ . . . . "RIV/00209805:_____/12:#0000320!RIV13-MSM-00209805" . "4"^^ . . "juvenile polyp; GIT tumors; hereditary hemorrhagic telangiectasia; SMAD4; BMPR1A"@en . . "CZ - \u010Cesk\u00E1 republika" . . . "25" . . "1"^^ . "Juvenile polyposis syndrome"@en . . "http://www.linkos.cz/files/klinicka-onkologie/172/4048.pdf" . "supplementum" . "Foretov\u00E1, Lenka" . . "I, P(ED2.1.00/03.0101)" . "0862-495X" . "143980" . . "Juveniln\u00FD polyp\u00F3zny syndr\u00F3m" . . "[FC2F4D7E59BB]" . . "Vasov\u010D\u00E1k, Peter" . .