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...
| Päätekijät: | , , , , , , , , , , , |
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| Aineistotyyppi: | Journal article |
| Kieli: | English |
| Julkaistu: |
1998
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| _version_ | 1826304319053365248 |
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| 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 |
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