Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18...

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Bibliografske podrobnosti
Main Authors: Howe, JR, Roth, S, Ringold, J, Summers, R, Järvinen, H, Sistonen, P, Tomlinson, I, Houlston, R, Bevan, S, Mitros, F, Stone, E, Aaltonen, L
Format: Journal article
Jezik:English
Izdano: 1998
Opis
Izvleček:Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway. The mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and lack sequences required for normal function. These results confirm an important role for SMAD4 in the development of gastrointestinal tumors.

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