Juvenile polyposis syndrome
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.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2012 |
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| Erschienen: |
2012 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:25 Suppl |
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| Enthalten in: |
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti - 25 Suppl(2012) vom: 26., Seite S16-7 |
| Sprache: |
Slowakisch |
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| Weiterer Titel: |
Juvenilný polypózny syndróm |
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| Beteiligte Personen: |
Vasovčák, P [VerfasserIn] |
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| Themen: |
BMPR1A protein, human |
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| Anmerkungen: |
Date Completed 16.10.2012 Date Revised 15.11.2012 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM220481563 |
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| 245 | 1 | 0 | |a Juvenile polyposis syndrome |
| 246 | 3 | 3 | |a Juvenilný polypózny syndróm |
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| 500 | |a Date Revised 15.11.2012 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Smad4 Protein |2 NLM | |
| 650 | 7 | |a BMPR1A protein, human |2 NLM | |
| 650 | 7 | |a EC 2.7.11.30 |2 NLM | |
| 650 | 7 | |a Bone Morphogenetic Protein Receptors, Type I |2 NLM | |
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| 700 | 1 | |a Foretová, L |e verfasserin |4 aut | |
| 700 | 1 | |a Puchmajerová, A |e verfasserin |4 aut | |
| 700 | 1 | |a Křepelová, A |e verfasserin |4 aut | |
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