| Attributes | Values |
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| rdf:type
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| rdfs:seeAlso
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| Description
| - Background. The TEL/AML1 fusion gene which represents the most frequent genetic abnormality in childhood ALL, usually results from genomic breakpoints in TEL intron 5 and AML1 intron 1 or 2. At the protein level, the helix loop helix domain and exon 5-coded central region of TEL are typically fused to almost entire AML1 including DNA-binding domain. Procedure. We identified two ALL patients with genomic breakpoints within TEL intron 4 resulting in variant TEL/AML1 fusion lacking the TEL exon 5-coded central region. This region was supposed to play an important role in TEL/AML1 function, particularly in TEL/AML1-mediated transcriptional repression of AML1 targets. We aimed at investigating the impact of the loss of this region on disease behavior and TEL/AML1 function. We compared clinical and biological characteristics, treatment response, and outcome of the variant versus classical TEL/AML1 cases, analyzed genome wide gene expression profiles and performed reporter gene assay. Results. No distinct differences between variant and classical TEL/AML1 cases were observed including gene expression profiling and detailed immunophenotyping. By using reporter gene assay, we showed that the loss of the central region does not influence the TEL/AML1-mediated transcriptional repression. Conclusions. The deletion of the central region did not affect the TEL/AML1-specific phenotype; we did not find any relevant differences in clinical and biological features when variant versus classical TEL/AML1-positive cases were compared. Thus, our data does not support hypothesis that the central region of TEL is indispensable for TEL/AML1 driven leukemogenesis. Pediatr Blood Cancer. 2011;56:217-225. (C) 2010 Wiley-Liss, Inc.
- Background. The TEL/AML1 fusion gene which represents the most frequent genetic abnormality in childhood ALL, usually results from genomic breakpoints in TEL intron 5 and AML1 intron 1 or 2. At the protein level, the helix loop helix domain and exon 5-coded central region of TEL are typically fused to almost entire AML1 including DNA-binding domain. Procedure. We identified two ALL patients with genomic breakpoints within TEL intron 4 resulting in variant TEL/AML1 fusion lacking the TEL exon 5-coded central region. This region was supposed to play an important role in TEL/AML1 function, particularly in TEL/AML1-mediated transcriptional repression of AML1 targets. We aimed at investigating the impact of the loss of this region on disease behavior and TEL/AML1 function. We compared clinical and biological characteristics, treatment response, and outcome of the variant versus classical TEL/AML1 cases, analyzed genome wide gene expression profiles and performed reporter gene assay. Results. No distinct differences between variant and classical TEL/AML1 cases were observed including gene expression profiling and detailed immunophenotyping. By using reporter gene assay, we showed that the loss of the central region does not influence the TEL/AML1-mediated transcriptional repression. Conclusions. The deletion of the central region did not affect the TEL/AML1-specific phenotype; we did not find any relevant differences in clinical and biological features when variant versus classical TEL/AML1-positive cases were compared. Thus, our data does not support hypothesis that the central region of TEL is indispensable for TEL/AML1 driven leukemogenesis. Pediatr Blood Cancer. 2011;56:217-225. (C) 2010 Wiley-Liss, Inc. (en)
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| Title
| - TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases
- TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases (en)
|
| skos:prefLabel
| - TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases
- TEL/AML1-Positive Patients Lacking TEL Exon 5 Resemble Canonical TEL/AML1 Cases (en)
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| skos:notation
| - RIV/00064203:_____/11:6967!RIV12-MZ0-00064203
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
| - Z(MSM0021620813), Z(MZ0FNM2005)
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
| |
| http://linked.open...ai/riv/idVysledku
| - RIV/00064203:_____/11:6967
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| http://linked.open...riv/jazykVysledku
| |
| http://linked.open.../riv/klicovaSlova
| - acute lymphoblastic leukemia; childhood leukemia; TEL/AML1; acute lymphoblastic-leukemia; fusion protein; chromosomal translocations; transcriptional repression; tel-aml1 translocation; preleukemic activity; expression patterns; tumor-suppressor; bone-marrow; stem-cells (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| |
| http://linked.open...in/vavai/riv/obor
| |
| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
| |
| http://linked.open...UplatneniVysledku
| |
| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Starý, Jan
- Trka, Jan
- Zuna, Jan
- Marschalek, R.
- Meyer, C.
- Cario, G.
- Žaliová, Markéta
- Vášková, Martina
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| http://linked.open...ain/vavai/riv/wos
| |
| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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