2024年4月27日 · ENSEMBL lists exon 2 only in two full-length transcripts of KMT2A (ENST00000531904 and ENST00000649666). In addition to the discrepancies concerning KMT2A exon 2, a recent experimental analysis...

1998年2月22日 · Using a sensitive reverse transcriptase-polymerase chain reaction (RT-PCR) assay, we identified several abnormally spliced transcripts in which MLL exons were joined in an order different from the genomic orientation (scrambled exons). Mis-splicing of MLL was present in both normal and malignant tissues.

2020年7月1日 · The MLL gene exhibits 37 exons with a full coding potential of 4005 amino acids. Be aware that exon 2, coding for 33 amino acids, is not presented in the NCBI database gene structure for MLL (nowadays termed KMT2A). Moreover, MLL exon 2 is present only in about 30% of transcripts [29].

Partial tandem duplication (PTD) of the KMT2A (MLL) gene is detected in approximately 5-10% of cases of acute myeloid leukemia (AML) 1–5 and within cases showing normal karyotype, confers a worse prognosis. 2,6,7 In these patients, the duplications are variable in size and most commonly involve exons 2 or 3, spanning through exon 6 or exons 8 ...

2011年11月13日 · Sequence of MLL PTD from sequencing, showing a break in exon8/exon2 (exon3/exon11). Previous studies have associated an MLL gene PTD with AML subtypes M1 and M2.

2016年3月5日 · In the majority of MLL-ELL fusion transcripts, exon 9, 10, 11 or 12 of MLL is fused to exon 2 of ELL [3, 8–13]. A variant form of MLL-ELL fusion transcript has been reported in chronic myelomonocytic leukemia in which MLL exon 9 (exon 10 according to Nilson et al. ) was fused to ELL exon 3 .

2019年3月21日 · In diagnostic fluorescence in situ hybridization analyses, these MLL–USP2 cases revealed two major patterns: (1) loss of the 3′-MLL probe signal, and (2) a normal pattern typical for MLL wild...

MLL translocation junction break sites (der-11) found in individual acute leukaemia (AL) cases fall within an 8.3 kb breakpoint cluster region (BCR), spanning intron 8 to exon 12 of the MLL gene (figure 2a).

对 MLL2 野生型与 MLL2 缺失等基因细胞系中 MLL2 结合谱和基因表达的组合分析确定了直接转录靶基因，并揭示了 MLL2 与多种细胞信号通路的联系，包括 p53 通路、cAMP 介导的信号通路、和胆汁淤积信号。 特别是，我们证明 MLL2 通过促进视黄酸响应基因转录参与视黄酸受体信号传导。 我们的结果展示了对 MLL2 靶位点的全基因组综合分析，并提出了由 MLL2 改变驱动的潜在肿瘤发生机制。 Global identification of MLL2-targeted loci reveals MLL2's role in diverse signaling …

2017年7月1日 · We report the case of a 10-year-old female with acute myeloid leukemia (AML) FAB M0 carrying a novel t (11;19) (q23;p13.1) MLL – ELL variant, in which intron 8 of MLL is fused to exon 6 of ELL. Complete remission, judged by morphology and cytogenetic analysis, was achieved after the conventional chemotherapy.