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Novel fusion gene
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Intrachromosomal triplications (TRP) can contribute to disease etiology via gene dosage effects, gene disruption, position effects, or fusion gene formation. Recently, post-zygotic de novo triplications adjacent to copynumber neutral genomic intervals with runs of homozygosity (ROH) have been shown to result in uniparental isodisomy (UPD).
14p
vibransone
28-03-2024
6
2
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Tropomyosin receptor kinase (TRK) fusion proteins resulting from neurotrophic tyrosine receptor kinase (NTRK) gene fusions are rare primary oncogenic drivers in a wide array of tumors. Larotrectinib is a first-in-class, highly selective, central nervous system-active TRK inhibitor approved by the US Food and Drug Administration (FDA), European Medicines Agency (EMA), and over 40 countries for the treatment of TRK fusion solid tumors in adult and pediatric patients.
11p
visusanwojcicki
28-06-2022
9
2
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The complex interspersed pattern of segmental duplications in humans is responsible for rearrangements associated with neurodevelopmental disease, including the emergence of novel genes important in human brain evolution.
35p
viarchimedes
26-01-2022
6
0
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Sinonasal Undifferentiated Carcinoma (SNUC) is a rare and aggressive skull base tumor with poor survival and limited treatment options. To date, targeted sequencing studies have identified IDH2 and SMARCB1 as potential driver alterations, but the molecular alterations found in SMARCB1 wild type tumors are unknown.
14p
vimahuateng
26-11-2021
14
1
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Machine learning can effectively nominate novel genes for various research purposes in the laboratory. On a genome-wide scale, we implemented multiple databases and algorithms to predict and prioritize the human aging genes (PPHAGE).
13p
viansan2711
30-07-2021
7
1
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Gene fusions, which result from abnormal chromosome rearrangements, are a pathogenic factor in cancer development. The emerging RNA-Seq technology enables us to detect gene fusions and profile their features.
11p
viwyoming2711
16-12-2020
9
1
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Kinase over-expression and activation as a consequence of gene amplification or gene fusion events is a well-known mechanism of tumorigenesis. The search for novel rearrangements of kinases or other druggable genes may contribute to understanding the biology of cancerogenesis, as well as lead to the identification of new candidate targets for drug discovery.
10p
vioklahoma2711
19-11-2020
6
1
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Latest Next Generation Sequencing technologies opened the way to a novel era of genomic studies, allowing to gain novel insights into multifactorial pathologies as cancer. In particular gene fusion detection and comprehension have been deeply enhanced by these methods.
12p
vioklahoma2711
19-11-2020
10
1
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The EML4–ALK (echinoderm microtubule-associated protein-like 4 gene and the anaplastic lymphoma kinase gene) fusion oncogene represents a novel molecular target in a small subset of non–small–cell lung cancers (NSCLCs). The EML4–ALK fusion gene occurs generally in NSCLC without mutations in epidermal growth factor receptor (EGFR) and KRAS.
5p
vijennie2711
29-09-2020
10
0
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Clear cell sarcoma (CCS) is a therapeutically unresolved, aggressive, soft tissue sarcoma (STS) that predominantly affects young adults. This sarcoma is defined by t(12;22)(q13;q12) translocation, which leads to the fusion of Ewing sarcoma gene (EWS) to activating transcription factor 1 (ATF1) gene, producing a chimeric EWS-ATF1 fusion gene.
12p
virose2711
22-09-2020
13
2
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Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). The patient reported here is only the eighth case of MNTI presenting in an extremity, and the first reported in the fibula.
14p
vimale2711
25-08-2020
7
2
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As hybrid RNAs, transcription-induced chimeras (TICs) may have tumor-promoting properties, and some specific chimeras have become important diagnostic markers and therapeutic targets for cancer.
12p
vibaku2711
22-07-2020
5
2
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In the present study, a novel pre-miniproinsulin analogue was designed to have a short 9 residue sequence replacing the 35 residue C-chain, one lysine and one arginine added to the C-terminus of the B-chain in combination with glycine and arginine substitution at A21 and B29, respectively, and a 16-residue fusion partner comprising the pentapeptide sequence (PSDKP) of the N-terminus of human tumor necrosis factor-a (TNF-a), 6 histidine residues for Ni2+ chelated affinity purification and a pentapeptide ending with methionine for ease of chemical cleavage fused at the N-terminus.
9p
trinhthamhodang1
16-11-2019
23
1
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Next-generation sequencing (NGS) is a high throughput sequencing technology, which has revolutionized both basic and clinical research of the human genetic disorders. This technology is also called massively parallel sequencing (MPS) due to its ability to generate a huge amount of output data in a cost- and time-effective manner. NGS is widely utilized for different sequencing applications such as targeted sequencing (a group of candidate genes), exome sequencing (all coding regions), and whole genome sequencing (the entire human genome).
14p
caygaocaolon1
13-11-2019
26
1
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The transmembrane topology of presenilins is still the subject of debate despite many experimental topology studies using antibodies or gene fusions. The results from these studies are partly contradictory and conse-quently several topology models have been proposed. Studies of preseni-lin-interacting proteins have produced further contradiction, primarily regarding the location of the C-terminus.
0p
awards
06-04-2013
32
2
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In the last section on ‘Other Types of Viral Vector’, chapter sixteen introduces the development of HIV vector pseudotyped with HIV envelope, and applications of these vectors for AIDS or adult T-cell leukemia. Chapter seventeen introduces the development of novel vector system for highly efficient retrograde gene transfer by pseudotyping the HIV-1 vector with fusion glycoprotein B type (FuG-B). Herpes simplex virus type 1 (HSV-1) is a human pathogen associated with keratitis and cold sores....
158p
kmkmkmkmkm
08-09-2012
57
13
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