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Deregulation of the...
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.
- Article/chapterEnglish1997
Publisher, publication year, extent ...
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Springer Science and Business Media LLC,1997
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printrdacarrier
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LIBRIS-ID:oai:DiVA.org:uu-199997
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-199997URI
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https://doi.org/10.1038/ng0197-95DOI
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from the t(17;22). In this report, the breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF), were characterised on the genomic and RNA level. These rearrangements fuse the platelet-derived growth factor B-chain (PDGFB, c-sis proto-oncogene) and the collagen type I alpha 1 (COL1A1) genes. PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes is not fully understood. COL1A1 is a major constituent of the connective tissue matrix. Neither PDGFB nor COL1A1 have so far been implicated in any tumour translocations. These gene fusions delete exon 1 of PDGFB, and release this growth factor from its normal regulation.
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Pedeutour, F
(author)
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Sirvent, N
(author)
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Grosgeorge, J
(author)
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Minoletti, F
(author)
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Coindre, J M
(author)
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Terrier-Lacombe, M J
(author)
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Mandahl, N
(author)
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Craver, R D
(author)
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Blin, N
(author)
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Sozzi, G
(author)
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Turc-Carel, C
(author)
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O'Brien, K P
(author)
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Kedra, D
(author)
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Fransson, I
(author)
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Guilbaud, C
(author)
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Dumanski, J P
(author)
Related titles
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In:Nature Genetics: Springer Science and Business Media LLC15:1, s. 95-81061-40361546-1718
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Simon, M P
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Pedeutour, F
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Sirvent, N
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Grosgeorge, J
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Minoletti, F
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Coindre, J M
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Terrier-Lacombe, ...
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Mandahl, N
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Craver, R D
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Blin, N
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Sozzi, G
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Turc-Carel, C
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O'Brien, K P
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Kedra, D
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Fransson, I
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Guilbaud, C
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Dumanski, J P
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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Nature Genetics
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Uppsala University