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...
| Autors principals: | , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Idioma: | English |
| Publicat: |
1998
|
| _version_ | 1826304319053365248 |
|---|---|
| author | Howe, JR Roth, S Ringold, J Summers, R Järvinen, H Sistonen, P Tomlinson, I Houlston, R Bevan, S Mitros, F Stone, E Aaltonen, L |
| author_facet | Howe, JR Roth, S Ringold, J Summers, R Järvinen, H Sistonen, P Tomlinson, I Houlston, R Bevan, S Mitros, F Stone, E Aaltonen, L |
| author_sort | Howe, JR |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T06:16:01Z |
| format | Journal article |
| id | oxford-uuid:f11a8696-e98a-47d3-b38d-c57efcbc637b |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T06:16:01Z |
| publishDate | 1998 |
| record_format | dspace |
| spelling | oxford-uuid:f11a8696-e98a-47d3-b38d-c57efcbc637b2022-03-27T11:53:24ZMutations in the SMAD4/DPC4 gene in juvenile polyposis.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f11a8696-e98a-47d3-b38d-c57efcbc637bEnglishSymplectic Elements at Oxford1998Howe, JRRoth, SRingold, JSummers, RJärvinen, HSistonen, PTomlinson, IHoulston, RBevan, SMitros, FStone, EAaltonen, LFamilial 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. |
| spellingShingle | Howe, JR Roth, S Ringold, J Summers, R Järvinen, H Sistonen, P Tomlinson, I Houlston, R Bevan, S Mitros, F Stone, E Aaltonen, L Mutations in the SMAD4/DPC4 gene in juvenile polyposis. |
| title | Mutations in the SMAD4/DPC4 gene in juvenile polyposis. |
| title_full | Mutations in the SMAD4/DPC4 gene in juvenile polyposis. |
| title_fullStr | Mutations in the SMAD4/DPC4 gene in juvenile polyposis. |
| title_full_unstemmed | Mutations in the SMAD4/DPC4 gene in juvenile polyposis. |
| title_short | Mutations in the SMAD4/DPC4 gene in juvenile polyposis. |
| title_sort | mutations in the smad4 dpc4 gene in juvenile polyposis |
| work_keys_str_mv | AT howejr mutationsinthesmad4dpc4geneinjuvenilepolyposis AT roths mutationsinthesmad4dpc4geneinjuvenilepolyposis AT ringoldj mutationsinthesmad4dpc4geneinjuvenilepolyposis AT summersr mutationsinthesmad4dpc4geneinjuvenilepolyposis AT jarvinenh mutationsinthesmad4dpc4geneinjuvenilepolyposis AT sistonenp mutationsinthesmad4dpc4geneinjuvenilepolyposis AT tomlinsoni mutationsinthesmad4dpc4geneinjuvenilepolyposis AT houlstonr mutationsinthesmad4dpc4geneinjuvenilepolyposis AT bevans mutationsinthesmad4dpc4geneinjuvenilepolyposis AT mitrosf mutationsinthesmad4dpc4geneinjuvenilepolyposis AT stonee mutationsinthesmad4dpc4geneinjuvenilepolyposis AT aaltonenl mutationsinthesmad4dpc4geneinjuvenilepolyposis |