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Article

SMAD genes in juvenile polyposis.

Genes, chromosomes & cancer - 1 Sept 1999

Roth S, Sistonen P, Salovaara R, Hemminki A, Loukola A, Johansson M, Avizienyte E, Cleary K A, Lynch P, Amos C I, Kristo P, Mecklin J P, Kellokumpu I, Järvinen H, Aaltonen L A

Abstract excerpt

Juvenile polyposis (JP) is a dominantly inherited condition characterized by the development of multiple hamartomatous tumors, juvenile polyps, in the gastrointestinal tract. The aim of this study was to clarify the role of SMAD4 in JP. DNA from four unrelated JP kindreds and three sporadic JP cases was available for mutation screening. Two truncating defects (one in a familial and one in a sporadic case) and one...

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Source

Identifiers

PMID: 10441006
DOI: 10.1002/(sici)1098-2264(199909)26:1<54::aid-gcc8>3.0.co;2-d

Genes

SMAD2
SMAD3
SMAD4
SMAD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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SMAD genes in juvenile polyposis.PMID 10441006Read ↗

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SMAD4 Immunohistochemistry Reflects Genetic Status in Juvenile Polyposis SyndromeSemantic proximity Read ↗

SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.Semantic proximity Read ↗

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