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internal tandem duplication

Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney

Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney

... After quality control, the short reads were processed and mapped on the human reference genome (including alternate loci and ribosomal DNA) by TopHat/BowTie pipeline. Variation calling was performed with SAMtools and ...

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Mutational Analysis of FLT3 Internal Tandem Duplication and D835 in De novo Adult Acute Myeloid Leukemia

Mutational Analysis of FLT3 Internal Tandem Duplication and D835 in De novo Adult Acute Myeloid Leukemia

... Given that the rate of FLT3 mutations varies between AML patients from different ethnic groups [5,7,13], we performed mutational analysis in order to detect the freque[r] ...

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Frequency of FLT3 ITD and FLT3 TKD Mutations in Multiple Myeloma Patients (A Case Control Study)

Frequency of FLT3 ITD and FLT3 TKD Mutations in Multiple Myeloma Patients (A Case Control Study)

... 1) internal tandem duplication (ITD) which is seen in 15- 35% of adult patients with acute myeloid leukemia (AML) and 2) point mutation in tyrosine kinase domain as known D835 or TKD [1, 4, 6, 8, ...

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Efficacy of a Mer and Flt3 tyrosine kinase small molecule inhibitor, UNC1666, in acute myeloid leukemia

Efficacy of a Mer and Flt3 tyrosine kinase small molecule inhibitor, UNC1666, in acute myeloid leukemia

... Flt3 internal tandem duplication (ITD), including decreased phosphorylation of Mer, Flt3 and downstream effectors Stat, Akt and Erk, induction of apoptosis in up to 98% of cells, and reduction of ...

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Mechanisms of drug resistance in acute myeloid leukemia

<p>Mechanisms of drug resistance in acute myeloid leukemia</p>

... Abbreviations: AML, acute myeloid leukemia; FLT3-iTD, Fms-like tyrosine kinase 3-internal tandem duplication; GST, glutathione S-transferase; LRP, lung resistance protein; MAPK, mitogen[r] ...

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BETP degradation simultaneously targets acute myelogenous leukemic stem cells and the microenvironment

BETP degradation simultaneously targets acute myelogenous leukemic stem cells and the microenvironment

... Similar experiments using an AML-PDX model relapsed fms-related tyrosine kinase 3–internal tandem duplication [FLT3ITD], complex cytogenetics confirmed the in vivo antileukemic effects o[r] ...

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Clinical use of FLT3 inhibitors in acute myeloid leukemia

Clinical use of FLT3 inhibitors in acute myeloid leukemia

... with internal tandem duplication of fms-like tyrosine kinase-3 (FLT3-ITD) is one of the two most common driver mutations and the presence of FLT3-ITD delivers poor ...

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Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms

Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms

... FLT3 internal tandem duplication (ITD), additional variant callers were used specifically for the region chr13:28607161–28609590: (1) Pindel [24] ver- sion ...

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PubMedCentral-PMC5030151.pdf

PubMedCentral-PMC5030151.pdf

... The presence of a FLT3 internal tandem duplication in patients with acute myeloid leukemia (AML) adds important prognostic information to cytogenetic risk group and response to the fir[r] ...

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Downstream molecular pathways of FLT3 in the pathogenesis of acute myeloid leukemia: biology and therapeutic implications

Downstream molecular pathways of FLT3 in the pathogenesis of acute myeloid leukemia: biology and therapeutic implications

... FLT3 (Fms-like tyrosine kinase 3) is a member of the class III receptor tyrosine kinase family. Notably, approximately one-third of acute myeloid leukemia (AML) patients have mutations of this gene, and such mutations ...

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Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence

... a duplication of the region encompassing exon 2, but not exon 1 or 3 ...the duplication region, long-range polymerase chain reaction (PCR) was performed based on the array CGH and MLPA ...

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The Molecular Basis of Multiple Vector Insertion by Gene Targeting in Mammalian Cells

The Molecular Basis of Multiple Vector Insertion by Gene Targeting in Mammalian Cells

... Class II recombinants are generated by two vector integration events each occurring by DSBR: As indicated in the Introduction, three distinct mechanisms could explain the tandem Cm triplication in the class II ...

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Resolving complex structural genomic rearrangements using a randomized approach

Resolving complex structural genomic rearrangements using a randomized approach

... The ability to accurately identify CSVs in whole gen- ome sequence data is a significant advancement, as cur- rently many such regions are either missed or identified as individual errant events. For example, in our ...

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Unequal Sister Chromatid and Homolog Recombination at a Tandem Duplication of the a1 Locus in Maize

Unequal Sister Chromatid and Homolog Recombination at a Tandem Duplication of the a1 Locus in Maize

... Evolutionary and breeding implications: This study extends our knowledge of factors that affect unequal recombination between tandemly duplicated genes. Rel- atively high rates of unequal recombination coupled with ...

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Tandem duplication of the proviral DNA in an avian sarcoma virus-transformed quail clone.

Tandem duplication of the proviral DNA in an avian sarcoma virus-transformed quail clone.

... We have observed that after extended tissue culture of the transformed quail clone Q-B77-11 the integrated proviral DNA has changed from one copy to two copies in tandem with only one co[r] ...

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Pax3/7 duplicated and diverged independently in amphioxus, the basal chordate lineage

Pax3/7 duplicated and diverged independently in amphioxus, the basal chordate lineage

... appears in Pax3/7b (N3, Fig. 3f). As the embryo becomes a larva, the two expression patterns converge until both expression patterns are largely restricted to the asymmetrical domain (L1 and 2, Supplementary Fig. S1a–c). ...

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Evolution of Mouse T-box Genes by Tandem Duplication and Cluster Dispersion

Evolution of Mouse T-box Genes by Tandem Duplication and Cluster Dispersion

... Although linkage mapping of the original five mouse T-box genes suggested that members of this gene family might all be dispersed to different chromo- somal locations, the [r] ...

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SPONTANEOUS REVERSION OF THE WHITE-IVORY MUTANT OF DROSOPHILA MELANOGASTER

SPONTANEOUS REVERSION OF THE WHITE-IVORY MUTANT OF DROSOPHILA MELANOGASTER

... The properties of the mutant and of the reversion event are consistent with the hypothesis that ivory is a serial tandem duplication of a portion of the white region and reverts[r] ...

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Structural and functional Alterations of FLT3 in 
Acute Myeloid Leukemia

Structural and functional Alterations of FLT3 in Acute Myeloid Leukemia

... segmental duplication of the JM domain may disrupt steric hindrance that normally prevent auto-dimerization, allowing receptor-receptor interaction to take ...

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FLT3 Mutations: Significance in Paediatric AML

FLT3 Mutations: Significance in Paediatric AML

... As previously mentioned, FLT3 mutations are the most common and clinically relevant mutations in AML, contributing to around one-third of the mutations. The next common mutations are those involving the MLL gene. Even ...

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