IndraLab

Statements

USP6 binds COL1A1. 21 / 21
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"In 6/7 cases RNASeq showed a COL1A1-USP6 fusion."
32157177
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"A molecular analysis performed on the FNAB sample confirmed the presence of COL1A1::USP6 fusion, which is considered diagnostic for MO in the appropriate clinical context."
40260834
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"Previous cytogenetic with subsequent RNA sequencing studies xref , xref in two STABCs showed COL1A1-USP6 fusion involving exon 1 of COL1A1 and a splicing variant of USP6 exon 1 or exon 2."
32157177
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"Majority of cases show COL1A1–USP6 fusion and herein we have described an additional case with ANGPTL2 gene as a novel fusion partner with USP6 ."
32157177
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"We detected a MYH9-USP6 fusion in the two hip cases and a COL1A1-USP6 fusion in the shoulder case."
33404853
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"Among 11 IMTs with no kinase gene rearrangement identified, one tumour demonstrated ALK activation via gene amplification and overexpression, and another neoplasm carried COL1A1::USP6 translocation."
37071060
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"Sharing COL1A1-USP6 fusion, FO and FOPD exhibited similar central or haphazard bone matrix deposition."
33000481
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"Here, we report a new case of a bone lesion of uncertain histogenesis with a t(17;17) translocation resulting in a COL1A1–USP6 chimeric transcript."
18068538
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"The reaction was performed at 37°C for 60 minutes, heated for 10 minutes at 65°C, and then kept at 4°C. A one-step polymerase chain reaction (PCR) was performed for amplification of the COL1A1–USP6 fu[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
18068538
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"To verify the presence of a COL1A1–USP6 fusion transcript, the 330-bp fragment was analyzed by direct sequencing, which showed that nucleotide 222 of COL1A (NM_000088) was fused with nucleotide 1696 o[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
18068538
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"Pathology revealed the presence of muscular tissue mixed with fibroblastic/myofibroblastic proliferation and ossification areas consistent with myositis ossificans (Fig.  xref ); COL1A1-USP6 fusion transcript upon molecular investigation by RT-PCR method was found."
35434525
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"In addition to histological features consistent with MOC, PCR analysis identified the transcript COL1A1-USP6 , recently reported in some cases of MOC [ xref ]."
35434525
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"Herein, we present a patient with surface myositis ossificans confirmed genetically by the presence of COL1A1::USP6 gene fusion, along with a literature review."
38741286
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"We have reported a second case of a bone lesion carrying a chromosomal aberration t(17;17) resulting in a COL1A1–USP6 chimeric gene."
18068538
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"Despite the finding of a breakpoint seemingly far from the COL1A1 locus, the cytogenetic similarity with the two cases already mentioned make it tempting to speculate that the COL1A1–USP6 is the chime[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
18068538
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"RNASeq further detected COL1A1-USP6 fusion in six cases and a novel ANGPTL2-USP6 fusion in one case."
32157177
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"In the appropriate clinicopathological context, molecular studies used to detect USP6 rearrangements, specifically COL1A1::USP6 fusion, can aid in the diagnosis of MO, as demonstrated in our case."
40260834
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"Thirteen cases showed COL1A1::USP6 fusion, one showed MYH9::USP6 fusion, and 4 were negative for common fusion types."
36727055
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"Notably, we believed that FO may demonstrate more similar clinicopathologic and genetic manifestations with MO/FOPD and ST-ABC instead of nodular fasciitis for involving lower limbs most frequently and showing recurrent COL1A1::USP6 fusion."
36727055
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"Next-generation sequencing revealed COL1A1-USP6 fusion in 2 tumors and COL3A1-USP6 fusion in the third tumor."
32583473
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"COL1A1-USP6 fusion was predominant in ossifying lesions, including all FOs, MOs, ST-ABCs, and FOPDs with identified partner genes, and also present in non-ossifying head and neck NFs (HN-NFs) and C-FTSs in 2 cases each."
33000481