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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.
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Simon, M P (author)
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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)
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- Springer Science and Business Media LLC, 1997
- 1997
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 15:1, s. 95-8
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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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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show more...
-
Terrier-Lacombe, ...
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Mandahl, N
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Craver, R D
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Blin, N
-
Sozzi, G
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Turc-Carel, C
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O'Brien, K P
-
Kedra, D
-
Fransson, I
-
Guilbaud, C
-
Dumanski, J P
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show less...
- About the subject
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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
- Articles in the publication
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Nature Genetics
- By the university
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Uppsala University