Matches in UGent Biblio for { <https://biblio.ugent.be/publication/5825364#aggregation> ?p ?o. }
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- aggregation classification "A1".
- aggregation creator B1033137.
- aggregation creator B1033138.
- aggregation creator B1033139.
- aggregation creator B1033140.
- aggregation creator B1033141.
- aggregation creator B1033142.
- aggregation creator B1033143.
- aggregation creator person.
- aggregation date "2014".
- aggregation format "application/pdf".
- aggregation hasFormat 5825364.bibtex.
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- aggregation isPartOf urn:issn:1059-7794.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Biology and Life Sciences".
- aggregation title "Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene".
- aggregation abstract "Palindromic sequences can form hairpin structures or cruciform extrusions, which render them susceptible to genomic rearrangements. A 197-bp long palindromic AT-rich repeat (PATRR17) is located within intron 40 of the neurofibromatosis type 1 (NF1) gene (17q11.2). Through comprehensive NF1 analysis, we identified six unrelated patients with a rearrangement involving intron 40 (five deletions and one reciprocal translocation t(14;17)(q32;q11.2)). We hypothesized that PATRR17 may be involved in these rearrangements thereby causing NF1. Breakpoint cloning revealed that PATRR17 was indeed involved in all of the rearrangements. As microhomology was present at all breakpoint junctions of the deletions identified, and PATRR17 partner breakpoints were located within 7.1kb upstream of PATRR17, fork stalling and template switching/microhomology-mediated break-induced replication was the most likely rearrangement mechanism. For the reciprocal translocation case, a 51bp insertion at the translocation breakpoints mapped to a short sequence within PATRR17, proximal to the breakpoint, suggesting a multiple stalling and rereplication process, in contrast to previous studies indicating a purely replication-independent mechanism for PATRR-mediated translocations. In conclusion, we show evidence that PATRR17 is a hotspot for pathogenic intragenic deletions within the NF1 gene and suggest a novel replication-dependent mechanism for PATRR-mediated translocation.".
- aggregation authorList BK1453117.
- aggregation endPage "898".
- aggregation issue "7".
- aggregation startPage "891".
- aggregation volume "35".
- aggregation aggregates 5825409.
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