Fusion genes gene fusion. Medical search. Frequent questions

Most fusion genes are found from hematological cancers, sarcomas, and prostate cancer.BCAM-AKT2 is a fusion gene that is specific and unique to high-grade serous ovarian cancer. (wikipedia.org)
NEW YORK (April 9, 2009) -- A newly discovered gene fusion is highly expressed in a subset of prostate cancers, according to a study by researchers at Weill Cornell Medical College. (eurekalert.org)
Unlike the gene fusions previously found in cancers, which arise when two chromosomes join together in an abnormal way, the new fusion occurs when the genes are being copied into RNA. (eurekalert.org)
NTRK fusions are rare: A recent sampling of more than 13,000 tumors found the abnormality in just 0.31% of adult cancers and 0.34% of pediatric tumors. (curetoday.com)
NTRK fusions appear in some common cancers, such as non-small cell lung, sarcoma and colon, as well as some rare cancers, including secretary breast carcinoma and cellular or mixed congenital mesoblastic nephroma. (curetoday.com)
However, the prevalence and role of fusion genes in female cancers remain largely unexplored. (broadinstitute.org)
Here, we investigate the fusion gene landscape in triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSOC), two subtypes of female cancers with high molecular similarity but limited treatment options at present. (broadinstitute.org)
Throughout the lifetime of patients with an FA gene mutation, DNA damage increasing accumulates, which would lead to a complex clinically and genetically heterogeneous disorder characterized by developmental abnormalities, bone marrow failure (BMF), immune deficiency, and a high risk of developing various cancers (e.g. (frontiersin.org)
(B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
For example, one study found up to 50% of prostate cancers contain recurrent gene fusions. (pacb.com)
One notable discovered fusion is ASPSCR1-TFE3 , a known marker of sarcomas, and appears in 0.05% of all cancers found in the AACR genomic GENIE database . (pacb.com)
These novel gene fusions occur in the majority of prostate cancers identified by PSA screening and are the driving mechanism for overexpression of the three members of the ETS transcription factor family, either ERG (21q22.3), ETV1 (7p21.2), or ETV4 (17q21). (uni-luebeck.de)
So far, this is the only gene rearrangement in any of the most prevalent cancers. (uni-luebeck.de)
Alterations in the activity (expression) of the SEPTIN9 gene are associated with certain cancers. (medlineplus.gov)
The recent discovery and subsequent characterization of recurrent gene rearrangements of ETS genes - most frequently ERG - in the majority of prostate cancers is a milestone in translational prostate cancer research. (uni-luebeck.de)

The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. (lu.se)
The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)
Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)
A new fusion was observed between the BCL6 co-repressor (BCOR) and the testis specific cyclin B3 (CCNB3) genes on chromosome X. RNA-Seq results were confirmed by RT-PCR and cloning the tumor-specific genomic translocation breakpoints. (refine.bio)
Figure 1A: Genomic rearrangement involving USP16 and RUNX1 genes in a CMML. (atlasgeneticsoncology.org)
Genetic analyses have provided a wealth of information on the genectic constitution of STT, and clearly nonrandom patterns of genetic changes, ranging from point mutations and gene fusions to massive genomic imbalalnces, have been identified in each histological entity studied in sufficient detail. (lu.se)

The Food and Drug Administration approved Vitrakvi in November 2018 to treat adults and children with solid tumors of any type originating anywhere in the body if the patients have fusions in one of three NTRK (neurotrophic receptor tyrosine kinase) genes. (curetoday.com)
It was the first drug on the market to target NTRK fusions and the second FDA approval based on the biological characteristics of tumors rather than their location in the body. (curetoday.com)
In particular, gene fusions can lead to transcriptional dysregulation that drive the development of tumors. (pacb.com)
Another study found gene fusions have also been noted in roughly one third of soft tissue tumors including Ewing's sarcoma - a form of cancer that, while rare, disproportionally affects children and adolescents. (pacb.com)
This fusion involves the androgen-regulated gene TMPRSS2 and so far three members of the ETS family of transcription factors already described as rearranged in the Ewing's family of tumors. (uni-luebeck.de)
By analogy, fusion status in prostate cancer may determine clinical outcome and secondary genetic alterations as witnessed in Ewing's tumors. (uni-luebeck.de)
Mertens F, Antonescu CR, Mitelman F: Gene fusions in soft tissue tumors: recurrent and overlapping pathogenetic themes. (lu.se)

Gene fusions are chimeric genes that combine at least two parental genes. (biomedcentral.com)
Here, using Next Generation Sequencing we identified a novel gene fusion event between DAXX and the kinesin motor protein, KIFC3, leading to the translation of a chimeric DAXX-KIFC3 fusion protein. (oncotarget.com)
Sequence analysis showed that the result of the inversion/fusion generated a chimeric USP16-RUNX1 transcript. (atlasgeneticsoncology.org)

Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma. (lu.se)
Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma. (lu.se)

The first fusion gene was described in cancer cells in the early 1980s. (wikipedia.org)
In the case of TMPRSS2-ERG, by disrupting androgen receptor (AR) signaling and inhibiting AR expression by oncogenic ETS transcription factor, the fusion product regulates the prostate cancer. (wikipedia.org)
Since chromosomal translocations play such a significant role in neoplasia, a specialized database of chromosomal aberrations and gene fusions in cancer has been created. (wikipedia.org)
This database is called Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. (wikipedia.org)
Presence of certain chromosomal aberrations and their resulting fusion genes is commonly used within cancer diagnostics in order to set a precise diagnosis. (wikipedia.org)
The gene fusion biomarker is also a different type of fusion than researchers have found in cancer previously and may represent an entirely new mechanism that cancer cells use to outgrow their healthy neighbors. (eurekalert.org)
The SLC45A3-ELK4 gene fusion is detectable at high levels in the urine of some men at risk for prostate cancer. (eurekalert.org)
Dr. Rubin's team is already working with a company to develop a urine test for prostate cancer using a chromosome-based gene fusion called TMPRSS2-ERG that the team discovered previously while working with members of Dr. Arul Chinnaiyan's research group at the University of Michigan. (eurekalert.org)
The two genes, SLC45A3 and ELK4, reside next to one another on the chromosome in normal and prostate cancer cells. (eurekalert.org)
However, when the genes are copied into RNA in the prostate cancer cells, they frequently generate a single RNA message that fuses information from both genes. (eurekalert.org)
We think this type of gene fusion might be a common mechanism in cancer," Dr. Rubin says. (eurekalert.org)
A new drug can break the circuit of cancer-causing effects that develop when certain genes fuse. (curetoday.com)
The testing that detected the NTRK gene fusion is what really made the difference between life and death," says Miller, 45, a mother of three teenagers who now travels throughout the country telling her story at cancer-related conferences. (curetoday.com)
NTRK fusions in cancer were discovered in the 1980s, and at first, oncology researchers feared they couldn't be targeted with drugs. (curetoday.com)
Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
She developed ovarian cancer, and then the altered FA pathway plus exposure to cytotoxic drugs promoted the emergence of acquired somatic mutations and the NUP98-HOXC11 fusion, all of which contributed to the development of secondary t-CMML. (frontiersin.org)
Following detection, we annotated the gene fusions using published databases for gene fusions in cancer. (biomedcentral.com)
log2(52/5264*10)=-3.33957596070679 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). (uth.edu)
log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). (uth.edu)
Because cancer-driven by a single oncogene, such as leukemia driven by the BCR-ABL fusion gene, is amenable to treatment with inhibitors that target that very single causative agent, there is a lot of interest to develop therapies to treat the EHE. (oist.jp)
Considering the high incidence of prostate cancer and the high frequency of this gene fusion, the TMPRSS2-ETS gene fusion is the most common genetic aberration so far described in human malignancies. (uni-luebeck.de)
Also similar to the Philadelphia chromosome in chronic myelogenous leukemia (CML), the gene fusion in prostate cancer has potential as an important candidate for the development of targeted therapy. (uni-luebeck.de)
The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)
Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)
Mitelman F. Cancer gene fusions detected by massive parallel sequencing. (lu.se)
Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)
Mertens F, Johansson B, Fioretos T, Mitelman F. The emerging complexity of gene fusions in cancer. (lu.se)
The altered gene expression may enhance several cancer-related events such as cell division (proliferation), cell movement, and the development of new blood vessels (angiogenesis) that nourish a growing tumor. (medlineplus.gov)
Although multiple molecular alterations have been detected in prostate cancer, a detailed understanding of gene fusion in prostate cancer should help explain the clinical and biologic diversity in addition to providing a rationale for a molecular sub-classification of the disease. (uni-luebeck.de)
This review describes the path from the identification of common ETS gene rearrangements in prostate cancer to possible applications in the treatment of patients, on to the potential scientific implications arising from their discovery. (uni-luebeck.de)
Genes, Chromosomes and Cancer. (lu.se)

ABL1 fusion gene, composed of the 3' part of the ABL1 gene in the breakpoint on chromosome 9 and the 5' part of a gene called BCR in the breakpoint in chromosome 22. (wikipedia.org)
An NTRK fusion occurs when a piece of the chromosome that contains a coding part of an NTRK gene splits off and connects to an unrelated gene on a different chromosome. (curetoday.com)

Ideogram of gene fusions in twelve sarcoma samples. (pacb.com)
A rare sarcoma of soft tissues, known as the EHE - Epithelial Hemangio-Endothelioma is driven by the mutated versions of YAP or TAZ genes. (oist.jp)
Gene profiling experiments indicate that BCOR-CCNB3-positive cases are biologically distinct from other sarcomas, particularly Ewings sarcoma. (refine.bio)
Thus the intrachromosomal X fusion described here represents a new subtype of bone sarcoma caused by a novel gene fusion mechanism. (refine.bio)

Such gene fusions are almost exclusively between genes that encode enzymes that perform sequential steps in the biosynthetic pathway. (wikipedia.org)
Tumor suppressor genes encode proteins that normally provide negative control of cell proliferation. (medscape.com)

However, none of the prognostic models incorporates parameters reflecting the status of chromosomal rearrangements and transcriptional disorganization in a patient sample, even though gene fusions are known to drive PCa development and progression [ 8 ]. (biomedcentral.com)

Fusion genes can contribute to tumor formation because fusion genes can produce much more active abnormal protein than non-fusion genes. (wikipedia.org)
If it happens in coding sequences, gene fusion cause the assembly of a new gene, then it allows the appearance of new functions by adding peptide modules into a multi-domain protein. (wikipedia.org)
TLR1-GFP fusion gene was generated by fusing the green fluorescent protein (GFP) gene to the C terminus of human Toll-like receptor 1 (TLR1) gene. (invivogen.com)
This fusion protein can be used to study the localization of TLR1. (invivogen.com)
Most human genes go through alternative splicing to create different transcript isoforms that impact the functional protein. (pacb.com)
Main function of each fusion partner protein. (uth.edu)
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. (uth.edu)
As well as providing fundamental insights into how the retina develops, discovering how the protein encoded by the strip1 gene keeps retinal ganglion cells alive also opens promising new avenues into treating diseases like glaucoma. (sciencedaily.com)
The SEPTIN9 gene provides instructions for making a protein called septin-9, which is part of a group of proteins called septins. (medlineplus.gov)
Approximately 15 slightly different versions (isoforms) of the septin-9 protein may be produced from this gene. (medlineplus.gov)
We report here that SRE1, a gene encoding a GATA-type protein, bound to promoter sequences of genes involved in siderophore biosynthesis. (nih.gov)
RB1 encodes the protein pRB and was the first tumor suppressor gene to be molecularly defined. (medscape.com)
The neuraminidase (NA) gene encodes the other surface protein of the virus. (cdc.gov)

Comprehensive genetic testing showed that many molecular variations (including FA gene germline mutations, RAS and epigenetic pathway somatic mutations, and NUP98-HOXC11 fusion) were highly linked to her serious and complex medical history ( Figures 1A, B ). (frontiersin.org)
NEW YORK (GenomeWeb News) - Genetic testing laboratory Pathway Genomics today announced a partnership with Practice Fusion to offer its services to Practice Fusion's network of more than 150,000 medical professionals. (genomeweb.com)
Duplication of genetic material within the SEPTIN9 gene has also been identified in affected individuals. (medlineplus.gov)
Genetic drivers are mutations or fusions that confer a survival advantage to "drive" malignant proliferation. (medscape.com)
Translocations and fusion genes are frequent, and type-specific genetic alterations are detected in these tumours. (bvsalud.org)

RNA-seq was utilized to identify fusion genes in a cohort of 18 TNBC and HGSOC patients treated with the PI3K inhibitor buparlisib and the PARP inhibitor olaparib in a phase I clinical trial (NCT01623349). (broadinstitute.org)
So far, researchers have mostly relied on short-read sequencing technology to identify fusion genes. (pacb.com)

This expands our understanding of how tumor cells may hijack androgen-regulated genes with neighboring genes and effectively alter its regulation. (eurekalert.org)

They discovered that her tumor had a rare mutation called NTRK gene fusion - and told her about a clinical trial opening in Denver for a drug targeting that abnormality. (curetoday.com)
Here we propose comprehensive response criteria based on the heterogenous clinical presentations of patients with MLN with eosinophilia and tyrosine kinase gene fusions. (nature.com)
Transcriptome analysis reveals overlap in fusion genes in a phase I clinical cohort of TNBC and HGSOC patients treated with buparlisib and olaparib. (broadinstitute.org)
From a clinical perspective, FOXP1 fusions were associated with a favorable overall survival. (broadinstitute.org)
The datasets included transcriptome-wide expression and matched clinical follow-up data to detect and characterize gene fusions in PCa. (biomedcentral.com)
The Clinical Associations Searcher searches studies pertaining to clinical associations of cytogenetic aberrations and/or gene rearrangements. (isb-cgc.org)
Emerging data suggest that gene fusion PCa demonstrates a distinct clinical course and thus support its use as a diagnostic test and prognostic biomarker. (uni-luebeck.de)
We found the number of identified gene fusions was increased from clinical the low-risk stage to the high-risk stage. (figshare.com)

The latter is common in lymphomas, where oncogenes are juxtaposed to the promoters of the immunoglobulin genes. (wikipedia.org)
In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)

We can observe its effect if gene fusion occurs in coding sequences. (wikipedia.org)
In this study, our objective was to analyze the fusion (F) gene sequences of a large set of HMPV strains collected from various countries over several years and to identify sequence signatures in different HMPV subtypes. (cdc.gov)
For phylogenetic studies, nucleotide sequences were obtained from amplified HMPV F-gene products as previously described ( 6 ). (cdc.gov)
Identical F-gene sequences (648 nt) were found for some strains isolated in the same year from the same country (CAN-1998-5/7, CAN-2000-11/14, CAN-2001-18/19/20) but also for strains isolated in different years from different countries (ISRAEL-2002-4 and CAN-1999-9, FRA-2001-5 and CAN-2002-23/25/27/28/29/32/33/34). (cdc.gov)
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (uth.edu)
Fusion amino acid sequences. (uth.edu)
Fusion transcript sequences (only coding sequence (CDS) region). (uth.edu)
Fusion transcript sequences (Full-length transcript). (uth.edu)

In summary, this study provides the first characterization of fusion genes in a cohort of TNBC and HGSOC patients. (broadinstitute.org)
Our gene fusion characterization workflow revealed two potential novel fusions specific for PCa. (biomedcentral.com)

Oncogenic fusion transcripts may also be caused by trans-splicing or read-through events. (wikipedia.org)
PacBio full-length RNA isoform sequencing (Iso-Seq method) resolves complex fusions , providing more accurate breakpoints, and a complete sequence readout of associated fusion transcripts. (pacb.com)
The top two panels contain the annotated transcripts for each gene, with ASPSCR1 in orange and TFE3 in blue. (pacb.com)
Specifically, three state-of-the-art gene fusion detection algorithms, including ChimeraScan, SOAPfuse, and TopHat-Fusion, were employed to identify the fusion transcripts in a RNA-seq data set of 498 neuroblastoma patients. (figshare.com)

In this study, we investigated gene fusions in PCa, characterized potential novel candidates, and explored their role as prognostic markers for PCa progression. (biomedcentral.com)

Given mapped Iso-Seq reads and a reference annotation, pbfusion flags reads that span two or more genes as putative gene fusion breakpoints, which are then clustered into fusion calls. (pacb.com)
A cryptic inv(21)(q21q22) associated with a microdeletion at one of the breakpoints, and a fusion involving RUNX1 and USP16 (encoding a de-ubiquitinating enzyme). (atlasgeneticsoncology.org)

The testing that detected the NTRK gene fusion is what really made the difference between life and death," says survivor Nichol Miller. (curetoday.com)
That's because three NTRK genes play critical roles in the development and survival of nerve cells, raising the possibility that altering the genes could cause dangerous neurological side effects. (curetoday.com)

But as researchers continued to study gene fusions, they realized those fears were unfounded. (curetoday.com)
To date, researchers have already identified germline mutations in 22 specific genes associated with the FA pathway, each accounting for an individual FA complementation group ( 2 ). (frontiersin.org)
And while several published studies show how long-read sequencing is more effective at discovering gene fusions accurately, researchers need a fusion calling tool to help them quantify and annotate fusions found in their Iso-Seq data. (pacb.com)
Researchers have identified a gene necessary for the survival of retinal ganglion cells -- a class of neurons located in the retina that are critical for vision. (sciencedaily.com)

The detecting methods to inventory gene fusion events on a large biological scale can provide insights about the multi modular architecture of proteins. (wikipedia.org)

Although the technical concordance of fusion detection algorithms was suboptimal, they have a similar biological relevance concerning perturbed pathways and regulated DEGs. (figshare.com)
Computational forecast of disease genes are inexpensive and also easier compared to biological experiments. (thesai.org)

A major distinctive feature of the purine biosynthetic pathways in Bacteria is the prevalence of gene fusions where two or more purine biosynthetic enzymes are encoded by a single gene. (wikipedia.org)
The long non-coding RNA MALAT1 was involved in 97/156 (62%) fusion genes, followed in prevalence by MUC16, FOXP1, WWOX and XIST. (broadinstitute.org)

Fusion genes can be therapeutically relevant if they result in constitutive activation of oncogenes or repression of tumor suppressors. (broadinstitute.org)
Driver events in pediatric malignancies can occur through loss of function in tumor suppressor genes or gain of function in proto-oncogenes. (medscape.com)

Targeted next-generation sequencing (NGS) of a panel of 80 genes was performed on her initial bone marrow aspirate sample and identified PTPN11, NRAS , and DNMT3A somatic mutations. (frontiersin.org)
Here, we present the case of a 54-year-old female patient with multiple FA gene mutations. (frontiersin.org)
A few SEPTIN9 gene mutations have been identified in individuals with hereditary neuralgic amyotrophy, a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in the shoulders and arms. (medlineplus.gov)
However, the relation between SEPTIN9 gene mutations and immune function is unclear. (medlineplus.gov)
[ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)

Die Entdeckung und Charakterisierung von rekurrierenden Rearrangements der ETS-Gene - wobei es sich am h{\"a}ufigsten um ein Rearrangement des ERG-Gens handelt - war ein Meilenstein der translationalen Prostatakarzinomforschung. (uni-luebeck.de)

Fusion genes aiding the diagnosis of soft tissue tumours of the oral cavity: From bench to bedside. (bvsalud.org)

Duplication, sequence divergence, and recombination are the major contributors at work in gene evolution. (wikipedia.org)
When gene fusion happens in non-coding sequence region, it can lead to the misregulation of the expression of a gene now under the control of the cis-regulatory sequence of another gene. (wikipedia.org)
The sequence region comprising nucleotides 60-708 of the F gene was entered into a multiple alignment generated by Clustal-W and corrected through final visual inspection with the SeqLab application (Wisconsin package version 10.3, Accelrys Inc., San Diego, CA). Phylogenetic analysis was performed by using distance methods with the PAUP 4.0b10 program (Sinauer Associates, Inc., Sunderland, MA) for the Macintosh. (cdc.gov)
Changes in the SEPTIN9 gene may alter the sequence of amino acids in certain septin-9 isoforms in ways that interfere with their function. (medlineplus.gov)

Τhis Hematology/Fusion/Expression Profile provides clinically relevant information on Fusion/translocations and expression of various genes that are relevant in hematologic neoplasms. (genomictestingcooperative.com)

Using a novel bioinformatics approach, our group recently described a novel gene fusion in PCa. (uni-luebeck.de)

With short reads, you cannot reveal full-length transcript structures of fusions. (pacb.com)
Accurate and sensitive detection of fusion genes and their transcript structures is needed to interpret functional consequences, understand tumor biology and evolution, and identify potential therapeutic targets. (pacb.com)
The USP16-RUNX1 fusion transcript did not have an open reading frame using the canonical start codons of USP16 or RUNX1. (atlasgeneticsoncology.org)
The break/fusion was not present in the germline since we did not find the USP16-RUNX1 transcript in buccal smear cells of the patient. (atlasgeneticsoncology.org)

Fanconi anemia (FA) genes play critical roles in the repair of DNA lesions. (frontiersin.org)

To relate the occurrence of gene fusions to Gleason Grading Groups and disease prognosis, we performed survival analyses using the Kaplan-Meier estimator, log-rank test, and Cox regression. (biomedcentral.com)
Structural variants such as gene fusions have shown an initial promise in enhancing mechanistic understanding of NB and improving survival rates. (figshare.com)
Furthermore, Kaplan-Meier survival analysis was performed, and differentially expressed genes (DEGs) for the redefined high-risk group were extracted and functionally analyzed. (figshare.com)
The gene fusion profiles could be utilized to redefine high-risk patient subgroups with significant onset age of NB, which yielded the improved survival curves (Log-rank p value ≤ 0.05). (figshare.com)

Abstract: A key step to apprehend the mechanisms of cells related to a particular disease is the disease gene identification. (thesai.org)
Basic concepts regarding mechanisms of fusion genes formation are presented to clarify this information for surgical pathologists . (bvsalud.org)

In a collaboration between University of Calgary and PacBio, a new fusion gene detection software has been created - pbfusion. (pacb.com)

In the recent fifth edition of the World Health Organization classification, similar to the recent update to the International Consensus Classification, the category was renamed to "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions" and both classifications added novel subtypes with new JAK2 rearrangements (e.g. (nature.com)

Differential gene expression analysis was performed to assess the function of fusion genes in silico. (broadinstitute.org)
In this study, we performed a comprehensive in silico investigation on the translational ability of gene fusions for patient stratification and treatment development for high-risk NB patients. (figshare.com)

Analysis of the N1 NA gene from the Chile specimen showed that it did not have any known or suspected markers of reduced susceptibility to this class of antivirals (i.e., oseltamivir). (cdc.gov)

pbfusion is a new software tool for detecting gene fusions and other transcriptional abnormalities in PacBio Iso-Seq data. (pacb.com)
A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma. (lu.se)

Therefore, it is important for the oral and head and neck pathologists to familiarise with the signature rearrangements and fusion genes for each tumour. (bvsalud.org)

It has been known for 30 years that the corresponding gene fusion plays an important role in tumorigenesis. (wikipedia.org)

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. (uth.edu)

An improved mechanistic understanding of fusion genes will support the future identification of innovative therapeutic approaches for these challenging diseases. (broadinstitute.org)

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (nih.gov)

Additionally, even when fusions are detected by short reads, they can only reveal gene-level information. (pacb.com)
Additionally, this paper proposes an effectual classifier, namely Levy Flight Krill herd (LFKH) based Adaptive Neuros-Fuzzy Inferences System (ANFIS), for the prediction of eye disease that are brought about by the human disease genes. (thesai.org)

Na(+) influx via Orai1 inhibits intracellular ATP-induced mTORC2 signaling to disrupt CD4 T cell gene expression and differentiation. (nih.gov)
Gene expression of FOXP1 was significantly elevated in patients with vs. without FOXP1 fusion (P= 0.02). (broadinstitute.org)
refine.bio: a resource of uniformly processed publicly available gene expression datasets. (refine.bio)
Expression of SRE1 was reduced under iron-starving conditions, underscoring its role as a negative regulator of genes involved in iron uptake. (nih.gov)
The responses attributed to TNFa are not a direct result of TNFa, but rather its ability to regulate the expression of TNFa responsive genes whose products directly mediate the response. (cdc.gov)
DNA array or real-time PCR techniques were used to evaluate gene expression induced by TNFa in myoblast cultures. (cdc.gov)
Myoblasts from TNFR1 and TNFR2 deficient mice demonstrated that TNFa induced gene expression in primary myoblasts is dependent on both receptors. (cdc.gov)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

Yes, in addition to designing panels for fusions and SNPs, Twist can also design panels for viruses, MSIs (microsatellite instabilities), structural variants, copy number variants (CNVs), and InDels (insertion/deletions). (twistbioscience.com)

Fusion genes have been found to be prevalent in all main types of human neoplasia. (wikipedia.org)
The defining cytogenetic abnormality, a translocation at the 8p11 locus, was found to involve the FGFR1 gene [ 14 ]. (nature.com)
We found evidence that the number of gene fusions was associated with the prognosis of PCa. (biomedcentral.com)
But the limitation in read length means that many fusions can be missed, especially in repeat-rich regions of the genome as found in this paper. (pacb.com)
Reporting in elife on March 22, 2022, the scientists found that when zebrafish embryos developed without a working version of a gene called strip1 , most retinal ganglion cells died, and inner retinal layers formed abnormally. (sciencedaily.com)

YAP and TAZ are fused to other genes that code for transcription factors that activate YAP and TAZ constitutively. (oist.jp)
As confirmed by other groups, we demonstrated that, within the group of ETS transcription factors, ERG is the most common fusion partner of the ETS genes with TMPRSS2. (uni-luebeck.de)

Customers should verify that the version of a gene sold by InvivoGen is suitable for the customer needs. (invivogen.com)

Genome browser shot of TFE3-ASPSCR1 fusion reads annotated by pbfusion. (pacb.com)
Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. (uth.edu)
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. (atlasgeneticsoncology.org)

The loss of iron led to a approximately 2.5-fold decrease in DNA-binding affinity, indicating that iron was directly involved in SRE1 regulation of iron-uptake genes. (nih.gov)

This narrative review aims to review fusion genes reported for STT that affect the oral cavity and their use in diagnostic molecular pathology . (bvsalud.org)

Anatomy26

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