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Tandem duplications
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The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygotic mutational event, previously reported to be seen once in every 12,000 individuals referred for genome-wide chromosomal microarray analysis due to congenital abnormalities.
21p
viellison
28-03-2024
3
2
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In this study, 23 GASA genes in common bean were identified and detailed bioinformatics analyzes were conducted at both gene and protein levels. Pvul-GASA proteins were categorized into three clusters, and a total of 13 duplication events (12 segmental and one tandem) were shown to play a role in the expansion of the GASA gene family in Phaseolus vulgaris L. The identified Pvul-GASAs have been shown to be linked to stress and hormone signaling pathways.
36p
lyhuyenthu
31-01-2023
4
2
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To discover driver fusions beyond canonical exon-to-exon chimeric transcripts, we develop CICERO, a local assembly-based algorithm that integrates RNA-seq read support with extensive annotation for candidate ranking. CICERO outperforms commonly used methods, achieving a 95% detection rate for 184 independently validated driver fusions including internal tandem duplications and other noncanonical events in 170 pediatric cancer transcriptomes.
18p
viarchimedes
26-01-2022
11
0
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The mixed-lineage leukemia (MLL) gene is located on chromosome 11q23. The MLL gene can be rear‑ ranged to generate partial tandem duplications (MLL-PTD), which occurs in about 5-10% of acute myeloid leukemia (AML) with a normal karyotype and in 5-6% of myelodysplastic syndrome (MDS) patients. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is currently one of the curative therapies available for AML and MDS with excess blasts (MDS-EB).
11p
vielonmusk
21-01-2022
9
0
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Heterodera glycines, commonly referred to as the soybean cyst nematode (SCN), is an obligatory and sedentary plant parasite that causes over a billion-dollar yield loss to soybean production annually.
14p
vigiselle2711
30-08-2021
7
1
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Mycobacterium bovis bacillus Calmette-Guérin (M. bovis BCG) is the only vaccine available against tuberculosis (TB). In an effort to standardize the vaccine production, three substrains, i.e. BCG Danish 1331, Tokyo 172–1 and Russia BCG-1 were established as the WHO reference strains. Both for BCG Tokyo 172–1 as Russia BCG-1, reference genomes exist, not for BCG Danish.
14p
visilicon2711
20-08-2021
6
1
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The recently published complete mitogenome of the European lobster (Homarus gammarus) that was generated using long-range PCR exhibits unusual gene composition (missing nad2) and gene rearrangements among decapod crustaceans with strong implications in crustacean phylogenetics.
11p
visilicon2711
20-08-2021
20
1
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Nicotinic acetylcholine receptors (nAChRs) are among the oldest and most conserved transmembrane receptors involved in signal transduction. Despite the prevalence and significance of cholinergic signaling, the diversity and evolution of nAChRs are not fully understood.
15p
viansan2711
30-07-2021
7
1
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Bowman-Birk inhibitors (BBI) are a family of serine-type protease inhibitors that modulate endogenous plant proteolytic activities during different phases of development. They also inhibit exogenous proteases as a component of plant defense mechanisms, and their overexpression can confer resistance to phytophagous herbivores and multiple fungal and bacterial pathogens.
21p
vilichoo2711
23-06-2021
11
1
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Sugarcane is capable to store large amounts of sucrose in the culm at maturity hence it became a major source of sucrose for the food and the renewable energy industries. Sucrose, the main disaccharide produced by photosynthesis, is mainly stored in the vacuole of the cells of non-photosynthetic tissues.
13p
vijichea2711
28-05-2021
15
1
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SWEETs play important roles in various biological processes, including plant growth, development, and response to environmental stimuli. Previously, we comprehensively found a total of 28 members of MeSWEET gene family in cassava (Manihot esculenta Crantz). Most of MeSWEET genes had 6 exons and 5 introns. In this study, 6 MeSWEET duplicated pairs, including 5 segmental and 1 tandem duplication events were manually predicted in cassava genome.
9p
tamynhan9
02-12-2020
9
1
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Extant genomes share regions where genes have the same order and orientation, which are thought to arise from the conservation of an ancestral order of genes during evolution. Such regions of so-called conserved synteny, or synteny blocks, must be precisely identified and quantified, as a prerequisite to better understand the evolutionary history of genomes.
15p
vikentucky2711
26-11-2020
8
2
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To study the differences between two unichromosomal circular genomes, e.g., mitochondrial genomes, under the tandem duplication random loss (TDRL) rearrangement it is important to consider the whole set of potential TDRL rearrangement events that could have taken place.
10p
viconnecticut2711
28-10-2020
19
1
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Tandem repeat sequences are common in the genomes of many organisms and are known to cause important phenomena such as gene silencing and rapid morphological changes. Due to the presence of multiple copies of the same pattern in tandem repeats and their high variability, they contain a wealth of information about the mutations that have led to their formation.
11p
vicoachella2711
27-10-2020
7
0
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Quizartinib, an inhibitor of class III receptor tyrosine kinases (RTKs), is currently in phase 3 development for the treatment of acute myeloid leukemia (AML) bearing internal tandem duplications in the FLT3 gene.
7p
vimanila2711
29-06-2020
6
1
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Expansins are plant cell wall loosening proteins that are involved in cell enlargement and a variety of other developmental processes. The expansin superfamily contains four subfamilies; namely, α-expansin (EXPA), β-expansin (EXPB), expansin-like A (EXLA), and expansin-like B (EXLB).
19p
viminato2711
22-05-2020
14
0
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Multidrug and toxic compound extrusion (MATE) transporter proteins are present in all organisms. Although the functions of some MATE gene family members have been studied in plants, few studies have investigated the gene expansion patterns, functional divergence, or the effects of positive selection.
19p
vihashirama2711
21-05-2020
12
2
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As a multigene family, plant aquaporins function not only in water transport but also in transport of small elements that are important for vegetative and reproductive growth of plants. Increasing evidence exhibits the relevance of aquaporins to tolerance against abiotic and biotic stresses such as drought, nutrient deficiency, and herbivore attack.
8p
vikimsa
22-02-2019
14
1
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Molecular phylogeny among catalase–peroxidases, cyto-chromecperoxidases, and ascorbate peroxidases was ana-lysed. Sixty representative sequences covering all known subgroups of class I of the superfamily of bacterial, fungal, and plant heme peroxidases were selected. Each sequence analysed contained the typical peroxidase motifs evolved to bind effectively the prosthetic heme group, enabling per-oxidatic activity.
13p
awards
05-04-2013
56
4
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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Detection of NPM1 exon 12 mutations and FLT3 – internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia
5p
toshiba24
06-12-2011
42
3
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