Translocations transcription gene rearrangement. Medical search. Frequent questions

In PITX1 Liebenberg is associated with a translocation or deletions, which cause insert promoter groups into the PITX1 locus. (wikipedia.org)
Screening the CBP gene for larger deletions, by using different cosmid probes in FISH, showed 14/171 microdeletions. (bmj.com)
Translocations, deletions, tandem duplications, and inversions (Fig. 1) are 4 standard forms of chromosomal rearrangement [6]. (calcimimeticagent.com)
The alterations might be the result of chromosomal rearrangements, such as translocations, and deletions, or of other abnormalities, such as read-through transcription and alternative transcriptional initiation sites. (uea.ac.uk)
This mix of DNA and RNA sequencing systems allows someone to become relatively comprehensive based on Allopurinol the mutational surroundings of coding genes including stage mutations indels amplifications deletions gene fusions/translocations and outlier gene appearance. (healthandwellnesssource.org)
The identification of chromosome 1 translocations and deletions is a rare and poorly investigated event in chronic lymphocytic leukemia (CLL). (cancerindex.org)
Lack of ETV6 (TEL) gene rearrangements or p16INK4A/p15INK4B homozygous gene deletions in infant acute lymphoblastic leukemia. (ucdenver.edu)
Different patterns of homozygous p16INK4A and p15INK4B deletions in childhood acute lymphoblastic leukemias containing distinct E2A translocations. (ucdenver.edu)
The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
Most PWS and AS cases (~70%) are due to ~5 Mb de novo deletions spanning a 2 Mb imprinted domain and several adjacent non-imprinted genes [ 1 ]. (biomedcentral.com)

Mutations in this gene have been associated with autism, club foot and polydactyly in humans. (wikipedia.org)
We have previously shown that disruption of the human CREB binding protein ( CREBBP or CBP ) gene, either by these gross chromosomal rearrangements or by point mutations, leads to RTS. (bmj.com)
Analyses of the entire CBP gene by the protein truncation test showed 4/37 truncating mutations. (bmj.com)
At least 85 mutations in the FUS gene have been found to cause amyotrophic lateral sclerosis (ALS), a condition characterized by progressive muscle weakness, a loss of muscle mass, and an inability to control movement. (medlineplus.gov)
People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased life expectancy compared with individuals who have sporadic ALS or ALS caused by mutations in other genes. (medlineplus.gov)
Rarely, people with ALS caused by FUS gene mutations also develop a condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. (medlineplus.gov)
It is unclear why some people with FUS gene mutations develop FTD and others do not. (medlineplus.gov)
Specific mutations involving the FUS gene are involved in several types of cancer. (medlineplus.gov)
Most commonly, mutations in this gene are found in tumors called soft tissue sarcomas, which develop in bones or in soft tissues such as nerves or cartilage. (medlineplus.gov)
FUS gene mutations have also been found in myxoid liposarcomas, which occur in fatty tissues of the body, and in cancer of the blood-forming cells in the bone marrow called acute myeloid leukemia (AML). (medlineplus.gov)
ALS mutations in TLS/FUS disrupt target gene expression. (medlineplus.gov)
Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. (arigobio.com)
Mutations, overexpression, rearrangement and translocation of this MYC gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma.The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (omnimabs.com)
Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). (medlineplus.gov)
The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. (medlineplus.gov)
ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)

Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)
In 2005 it was discovered that over 50% of prostate cancers harbor recurrent gene fusions of the androgen-regulated gene with ETS transcription factors (7) suggesting that gene fusions/translocations may play a significant role in common epithelial tumors Allopurinol similar to hematologic malignancies and sarcomas. (healthandwellnesssource.org)
Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
The applica tion of new genetic tools also led to the discovery of an important familial neuroblastoma cancer gene, ALK , which is mutated in approximately 8% of sporadic tumors, and genome-wide association studies have unveiled loci with risk alleles for neuroblastoma development. (biomedcentral.com)
Thus, V(D)J recombination must be tightly regulated to ensure proper lymphocyte development and avoid chromosomal translocations that cause lymphoid tumors. (wustl.edu)

The genetic changes associated with these cancers are rearrangements (translocations) of genetic material between chromosome 16 (where the FUS gene is located) and other chromosomes. (medlineplus.gov)
Translocations trigger the switch of genetic components amongst distinctive chromosomes. (calcimimeticagent.com)
The toddler was found to have the first reported balanced chromosomal complex rearrangement involving chromosomes 1, 9 and 10, inherited from his partially affected mother. (empiregenomics.com)
We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
For example, growing evidence strongly suggests that transcription can interfere locally with genome duplication by DNA polymerases or with the SMC-driven 3D organization of chromosomes (Fig. 1). (ens-lyon.fr)

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. (wikipedia.org)
The FUS protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. (medlineplus.gov)
Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
ETS proteins act as transcriptional repressors or activators to modulate the expression of target genes. (bvsalud.org)
Two bladder cancer cell lines that harbor FGFR3 fusion proteins exhibited enhanced susceptibility to pharmacologic inhibition and Due to the combinatorial possibilities of FGFR family fusion to a variety of oligomerization partners clinical sequencing efforts which incorporate transcriptome analysis for gene fusions are poised to identify rare targetable FGFR fusions across diverse cancer types. (healthandwellnesssource.org)
Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
Our data are consistent with the idea that above a certain density threshold, tightly-bound proteins can impede the translocation of condensin on chromatin. (ens-lyon.fr)
Previously, the genome of the cereal pathogen Fg was sequenced and shown to encode a larger number of proteins in pathogenicity related protein families compared to non-pathogenic fungi, including predicted transcription factors, hydrolytic enzymes, and transmembrane transporters 5 . (nature.com)
Specialized cell structures called ribosomes are the cellular organelles that actually synthesize the proteins (RNA transcription). (cdc.gov)

In the t(8;21) translocation associated with acute myeloid leukemia (AML), the AML1(CBFA2/PEBP2alphaB) gene is juxtaposed to the MTG8(ETO/CDR) gene. (embl-heidelberg.de)
Translocations involving TCF3 are some of the most common rearrangements in childhood B-cell acute lymphoblastic leukaemia (ALL) 1,2 . (ogt.com)
We report the case of a child with acute promyelocytic leukemia (APL) who had characteristic chromosome translocation t(15;17) and rare PML-RARA gene mutation. (neoplasiaresearch.com)
De Braekeleer E, Douet-Guilbert N, De Braekeleer M. RARA fusion genes in acute promyelocytic leukemia: a review. (neoplasiaresearch.com)
Avgerinou G, Katsibardi Κ, Filippidou M, Tzanoudaki M, Papadhimitriou SI, Kattamis A. Cytogenetically cryptic and fish negative PML/RARA rearrangement in acute promyelocytic leukemia detected by RT-PCR. (neoplasiaresearch.com)
T-cell acute lymphoblastic leukemia (T-ALL) is characterized by translocations of oncogenic transcription factor genes and T-cell receptor loci. (empiregenomics.com)
Deregulation of the epigenome is an important pathogenetic mechanism in acute lymphoblastic leukemia (ALL) with lysine (K)-specific methyltransferase 2A rearrangement (KMT2Ar). (scilifelab.se)
A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia. (cancerindex.org)
A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). (medlineplus.gov)
Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. (medlineplus.gov)
Translocations between MLL (a human trithorax -related gene) and AF4 or AF5q31 are involved in acute lymphoblastic leukemia (Wittwer, 2001, Tang, 2001 and Su, 2001). (sdbonline.org)

CBP is a large nuclear protein involved in transcription regulation, chromatin remodelling, and the integration of several different signal transduction pathways. (bmj.com)
Chromatin immunoprecipitation (ChIP) and dual luciferase reporter assays were conducted to determine the transcription regulation of GALNT7 by SPDEF. (bvsalud.org)
methylates H3, including histones in the HOX area for allowing chromatin to be open to transcription. (atlasgeneticsoncology.org)
The specificity of V(D)J recombination is due, in large part, to changes in the accessibility of chromatin at target gene segments, which either permits or restricts access to recombinase. (wustl.edu)
These ACE-mediated alterations are critical for activation of gene segment transcription and for opening chromatin associated with recombinase target sequences. (wustl.edu)

In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)

In the first part of this study, using data from exon microarrays, we developed a novel method that can identify transcriptional alterations within genes. (uea.ac.uk)
6 ] studied the evolution of lncRNAs and their role in transcriptional regulation and epigenetic gene regulation. (biomedcentral.com)
MKL1 and MKL2 ), or robust SRF transcriptional coactivators, have been reported to organize actin cytoskeletal rearrangement and regulate cell motility by controlling the expression of dozens of cytoskeletal/adhesion genes ( 4-6 ). (aacrjournals.org)
Transcriptional elongation is a generic function, but is also regulated to allow rapid transcription responses. (sdbonline.org)
These results suggest that transcriptional elongation control is especially important for rapidly expressed genes to support digestion and metabolism, many of which have sex-biased function. (sdbonline.org)
This dissertation also clarified the Peromyscus melanophrys sex determining system and in doing so, identified an unusual late-replicating XY to autosome translocation with potential transcriptional activity. (uconn.edu)
Using gene expression, non-coding conserved sequence (NCCS) and synteny data, we have genetically mapped a putative Luzp2 neuronal enhancer responsible for ~33% of allelic transcriptional activity. (biomedcentral.com)
The mapping of a putative Chrna7 neuronal enhancer inside the deletion has significant implications for understanding the transcriptional regulation of this schizophrenia-susceptibility candidate gene. (biomedcentral.com)

Background: Approximately half of the prostate carcinomas are characterized by a chromosomal rearrangement fusing the androgen-regulated gene TMPRSS2 to the oncogenic ETS transcription factor ERG. (usuhs.edu)

These translocations break chromosome 16 in the middle of the FUS gene and fuse it with another gene on a different chromosome, creating a fusion gene. (medlineplus.gov)
Fusion genes usually have partial function of both genes involved. (medlineplus.gov)
These become fused to TCF3 as a result of the t(1;19)(q23;p13) and t(17;19)(q22;p13) translocations, forming the TCF3-PBX1 and TCF3- HLF fusion genes, respectively. (ogt.com)
A rare cryptic inversion, inv(19)(p13;q13), has been reported to fuse TCF3 to TFPT ( TCF3 fusion partner ) resulting in the TCF3-TFPT fusion gene 1 . (ogt.com)
The functional fusion gene resides at chromosome 19. (ogt.com)
Throughout the similar period, some other fusion genes had also been discovered in B cell lymphomas, like IGH?MYC, IGL YC and IGK YC. (calcimimeticagent.com)
Formation of Fusion Genes Different fusion genes can lead to cancers, so it is extremely required to comprehend their causes. (calcimimeticagent.com)
Fusion genes are mainly generated from chromosomal rearrangements and abnormal transcription, however the former 1 is a lot more prevalent. (calcimimeticagent.com)
A lot of fusion genes are generated via translocation,?017 Bentham Science Publishers1389-2029/17 58.00+.Recurrent Fusion Genes in LeukemiaCurrent Genomics, 2017, Vol. 18, No.Fig. (1). (calcimimeticagent.com)
The formation of fusion genes via chromosomal rearrangement. (calcimimeticagent.com)
The massive blue arrows indicate the resulting fusion genes. (calcimimeticagent.com)
At times a fusion gene is brought on by deletion, which only entails 1 chromosome. (calcimimeticagent.com)
By way of example, in prostate cancer, the TMPRSS2-ERG fusion genes are generated from interstitial deletion of chromosome 21q22 [8]. (calcimimeticagent.com)
Dihydroxyacetone phosphate hemimagnesium Autophagy Furthermore towards the above two mechanisms, fusion genes also can arise through tandem duplications or inversions. (calcimimeticagent.com)
For example, the FGFR3-TACC3 fusion genes in glioblastoma outcome from tandem duplication on 4p16.three [9]. (calcimimeticagent.com)
Fusion genes can also arise by means of transcription-induced chimeras, that is unrelated to chromosomal rearrangements. (calcimimeticagent.com)
2. Research Techniques OF FUSION GENES Historically, the exploration of chimeric genes started with all the observation on chromosomal rearrangement by means of chromosome banding analysis (karyotyping). (calcimimeticagent.com)
At the genetic level, APL is featured by a unique chromosome translocation t(15;17) which results in the PML-RARA gene fusion. (neoplasiaresearch.com)
Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. (lu.se)
On the basis of a novel FOS-LMNA gene fusion identified by RNA sequencing in an index case of a skeletal EH with typical morphology, we sought to investigate the prevalence of FOS rearrangement in a large cohort of EHs. (tmu.edu.tw)
gene fusion which characterizes chronic myeloid leukemia (CML) (5). (healthandwellnesssource.org)
Of these the kinase gene Allopurinol fusion which characterizes 1-5% of lung adenocarcinomas has gained the most traction in the context of precision therapy- as patients with this gene fusion respond to the kinase inhibitor crizotinib (13 14 Recently and fusions with and fusions were identified in a subset of bladder carcinomas (16). (healthandwellnesssource.org)
However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
This translocation seems to create nonfunctional fusion genes. (atlasgeneticsoncology.org)
This translocation produced an in-frame fusion gene consisting of exons 1-6 of ESR1 and the C-terminus of the Hippo pathway coactivator gene, YAP1 , thereby generating a stable ESR1 fusion protein that was a highly active constitutive transcription factor. (healthyhormonesclub.com)
Our group more recently discovered another in-frame ESR1 fusion gene involving the protocadherin 11 X-linked gene, PCDH11X provided by inter-chromosomal translocation that also produced stable ESR1 fusion protein identified in a patient with endocrine-refractory, metastatic ER+ breast cancer. (healthyhormonesclub.com)
Results: Nearly half of the PC tissue specimens (HN: 38%, CR: 46%) harbored a TMPRSS2-ERG gene fusion. (usuhs.edu)
An interstitial deletion del(4)(q12q12) generating a FIP1L1-PDGFRA fusion gene is observed in diverse eosinophilia-associated hematologic disorders like hyperseosinophilic syndrome (HES), systemic mastocytosis (SM) and chronic eosinophilic leukemia (CEL). (atlasgeneticsoncology.org)
The cryptic interstitial deletion on chromosome band 4q12 leading to FIP1L1-PDGFRA fusion is quite unique as it is generated by a cryptic chromosomal deletion, rather than a translocation (Gotlib and Cools, 2008). (atlasgeneticsoncology.org)
Occasional patients have had a chromosomal rearrangement with a 4q12 breakpoint, such as t(1;4)(q44;q12), which ultimately led to the identification of the fusion gene or t(4;10)(q12;p11) (Cools et al. (atlasgeneticsoncology.org)
One of the best techniques to detect the presence of the FIP1L1-PDGFRA fusion gene is using triple-color FISH probes hybridizing to the region between the FIP1L1 and PDGFRA genes incorporating the CHIC2 (cysteine-rich hydrophobic domain 2) gene. (atlasgeneticsoncology.org)

The next step to discover much more in regards to the rearrangement is fluorescence in situ hybridization (FISH), utilizing probes which span the chromosomal breakpoints, to ensure that it might locate the breakpoints380 Current Genomics, 2017, Vol. 18, No.Wa. (calcimimeticagent.com)
Most patients can be diagnosed by traditional karyotype analysis, Fluorescence-In-Situ Hybridization (FISH), or Reverse Transcription-Polymerase Chain Reaction (RT-PCR). (neoplasiaresearch.com)
A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT-PCR), and fluorescence in situ hybridization. (lu.se)
Thus 57 additional EH cases lacking FOSB rearrangements were studied for FOS gene abnormalities by fluorescence in situ hybridization, and results were correlated with morphologic appearance and clinical presentation. (tmu.edu.tw)
We analyzed the ERG rearrangement status by fluorescence in situ hybridization and the expression profiles of ERG, androgen receptor (AR) and the proliferation marker Ki67 by immunohistochemistry. (usuhs.edu)

ETS transcription factor ELK3 (ELK3), as a type of ETS protein, was shown to enhance in various cancers, suggesting that it may have an oncogenic role. (bvsalud.org)
Despite the differences in their normal roles, these genes all contribute to unregulated cell division if they are present in a mutant (oncogenic) form. (cancerquest.org)

Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. (atlasgeneticsoncology.org)

One basic problem is how a decrease in tRNA levels, by downregulating Pol III efficiency, influences the expression pattern of protein-coding genes. (mdpi.com)
We aimed to evaluate quantitative real-time PCR (qPCR) targeting three protein-coding genes of Histoplasma capsulatum (100-kDa, H and M antigens) for detection of this fungus in formalin-fixed paraffin-embedded (FFPE) samples from patients with proven histoplasmosis. (cdc.gov)

For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
This gene encodes a protein with protease activity and is expressed in the placenta. (cancerindex.org)
HER2/neu (also called ERB B2 ) is the gene that encodes the human epidermal growth factor receptor type 2. (cancerquest.org)
The lilli gene encodes a nuclear protein related to the AF4/FMR2 family. (sdbonline.org)

DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites. (scilifelab.se)

TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
Depending on the type of mutation, these conditions can be related to impaired regulation of gene activity or loss of normal gene function. (medlineplus.gov)

Loss of FMR2 gene transcription causes mental retardation. (sdbonline.org)

Cancers assigned to this subtype (designated DESNT cancers) are characterized by low expression of a core set of 45 genes. (uea.ac.uk)
The DESNT cancers are not linked with the presence of any particular class of genetic mutation, including ETS gene status. (uea.ac.uk)
Through a potential clinical sequencing program for advanced cancers four index cases were identified which harbor gene rearrangements of including patients with cholangiocarcinoma breast cancer and prostate cancer. (healthandwellnesssource.org)
A diagram showing the major cancer genes for some cancers. (cancerquest.org)
In multiple human cancers, Tβ4 levels correlate positively with TGFβ1 and the tumor-associated gene expression levels through processes that respectively depend on TGFβ receptor 1 (TGFBR1) and MRTF expression. (aacrjournals.org)

FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. (lu.se)
The results indicate an absolute requirement for the rearrangement of the RARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation. (lu.se)

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome. (wikipedia.org)
This study reported the first case of T-ALL with TCR alpha/delta (TRA/D) locus rearrangements associated with t(11;14)(p13;q11.2), inv(14)(q11.2q32), and clonal evolution of JAK2 rearrangement. (empiregenomics.com)
Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)

The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. (arigobio.com)
The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. (abcam.com)

As a transcription factor whose expression is increased by DNA damage, p53 blocks cell division at the G1 phase of the cell cycle to allow DNA repair. (medscape.com)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Ploidy and MYCN amplification have been used as genetic markers for risk stratification and therapeutic decision making, and, more recently, gene expression profiling and genome-wide DNA copy number analysis have come into the picture as sensitive and specific tools for assessing prognosis. (biomedcentral.com)
maintains HOX genes expression in undifferentiated cells. (atlasgeneticsoncology.org)
Aim of this study was to comprehensively analyze the role and impact of the ERG rearrangement and protein expression on the progression to castration-resistant (CR) disease. (usuhs.edu)
Remarkably, the study revealed a subgroup (26%) of CR PCs with ERG rearrangement but without any detectable ERG protein expression. (usuhs.edu)
Here, it is demonstrated that TGFβ facilitates Tβ4 expression and leads to the activation of myocardin-related transcription factors (MRTF), which are coactivators of serum response factor (SRF) and regulate the expression of genes critical for the epithelial-mesenchymal transition (EMT) and tumor metastasis. (aacrjournals.org)
In murine mammary gland cells (NMuMG), Tβ4 upregulation is required for full induction of a MRTF-regulated EMT gene expression program after TGFβ stimulation. (aacrjournals.org)
Tβ4-knockout B16F1 (Tβ4 KO) clones show significantly diminished expression level of tumor-associated genes, which is regulated by the TGFβ/MRTFs pathway. (aacrjournals.org)
These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
Hundreds of genes were observed with sex-biased differential expression following treatment. (sdbonline.org)
These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
Chromosomal rearrangements can mutate genome structure and gene expression patterns through amplifying and/or eliminating genetic material, and by modifying the regulatory elements that control transcription. (uconn.edu)
Cells will adapt by activating the expression of genes involved in metabolic adaptation, such as those involved in glycolysis. (bmj.com)
In this study, we define the deletion endpoints and examine the impact on expression of flanking genes. (biomedcentral.com)
Normal expression levels were found in TgPWS brain for genes extending 9.1- or 5.6-Mb centromeric or telomeric of the deletion, respectively. (biomedcentral.com)
Other than for the first gene promoters immediately outside the deletion, since genes extending 5.6-9.1 Mb away from each end of the deletion show normal expression levels in TgPWS brain, this indicates that the transgene array does not induce silencing and there are no additional linked rearrangements. (biomedcentral.com)

PITX1 has been shown to interact with pituitary-specific positive transcription factor 1. (wikipedia.org)
The AML1-CBFbeta transcription factor complex is essential for the definitive hematopoiesis of all lineages and is the most frequent target of chromosomal rearrangements in human leukemia. (embl-heidelberg.de)
It acts as a transcription factor, which means that it helps control the activity of other genes. (medlineplus.gov)
Because forkhead box P2 is a transcription factor, these changes affect the activity of other genes in the developing brain. (medlineplus.gov)
The TCF3 ( transcription factor 3 ) gene is located at 19p13.3. (ogt.com)
Two of the main TCF3 partners are PBX1 ( PBX homeobox 1 ) at 1q23.3 and HLF ( HLF transcription factor, PAR bZIP family member ) at 17q22. (ogt.com)
It functions as a transcription factor that regulates transcription of specific target genes. (arigobio.com)
The CDK4-cyclinD complex normally phosphorylates the retinoblastoma protein (Rb protein), leading to release of the E2F transcription factor and cell cycle progression. (medscape.com)
In KMT2Ar ALL, DNA methylation loss was enriched at enhancers and for certain transcription factor binding sites such as BCL11A, EBF, and MEF2A. (scilifelab.se)
In summary, DNA methylation changes in KMT2Ar ALL target enhancers, genes involved in leukemogenesis and normal hematopoiesis, as well as transcription factor networks. (scilifelab.se)
The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). (medlineplus.gov)
This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. (medlineplus.gov)
they form a multiprotein complex with transcription factor TFIID. (atlasgeneticsoncology.org)
Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:29146937, PubMed:30733432, PubMed:31672913). (neobiotechnologies.com)
Upon starvation or lysosomal stress, inhibition of MTOR induces TFE3 dephosphorylation, resulting in nuclear localization and transcription factor activity (PubMed:31672913). (neobiotechnologies.com)

For example, in affected individuals with a deletion involving chromosome 7, a loss of FOXP2 is thought to disrupt speech and language development, while the loss of nearby genes accounts for other signs and symptoms. (medlineplus.gov)
Empire Genomics' RP11-51F24 FISH probe helped to confirm CNTN4 loss in a patient with deletion of the gene. (empiregenomics.com)
1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. (cancerindex.org)
Using molecular and cytological methods we demonstrate that 13 imprinted and 11 non-imprinted genes are included in the TgPWS/TgAS deletion. (biomedcentral.com)

Activates the transcription of growth-related genes. (arigobio.com)
The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). (medlineplus.gov)

FIP1L1-PDGFRA rearrangement has been found in a variety of cell lineages (neutrophils, monocytes, eosinophils, CD34+ cells, mast cells and even lymphoid) consistent with an origin in an hematopoietic stem cells or early progenitors progenitor (Gotlib and Cools, 2008). (atlasgeneticsoncology.org)

The human eight twenty-one (ETO, MTG8 or CBFA2T1) and related myeloid transforming gene products MTGR1 and MTG16 as well as the Nervy protein contain the NHR1-4 domains. (embl-heidelberg.de)
This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. (medlineplus.gov)
While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells. (medlineplus.gov)

Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. (oncotarget.com)
Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
The features of transcription that are directly responsible for these genome-destabilizing threats are still under investigation and are the primary focus of our research. (ens-lyon.fr)
Using genetics and genome editing strategies in fission yeast, we have accumulated compelling evidence that the mechanisms of transcription termination at the 3' end of genes play a role in determining the local occupancy of condensin, whatever the RNA polymerase involved. (ens-lyon.fr)
A by-product of transcription that is of a particular interest to explain the genome-destabilizing properties of transcription are R-loops. (ens-lyon.fr)
Recent evidence suggests that the stabilization of at least a particular subset of R-loops is associated with DNA damage and genome rearrangements. (ens-lyon.fr)
The coordinated transcription of the genome is the fundamental mechanism in molecular biology. (mdpi.com)

These results also suggest that dysregulation of the FOS family of transcription factors through chromosomal translocation is as a key event in the tumorigenesis of EH except for the ALHE variant. (tmu.edu.tw)

Other people with this condition have a mutation within the FOXP2 gene itself. (medlineplus.gov)
Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)
2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)

CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (embl-heidelberg.de)

Pre-clinical studies suggest that GBM patients with FGFR-TACC gene fusions may benefit from targeted FGFR kinase inhibition (17 18 RESULTS Our IRB approved clinical sequencing program called MI-ONCOSEQ (the Michigan Oncology Sequencing Program) enrolls patients with advanced cancer across all histologies (3). (healthandwellnesssource.org)
Within Allopurinol this research four MI-ONCOSEQ sufferers were prospectively determined that harbored gene fusions of by transcriptome sequencing (Fig. 1). (healthandwellnesssource.org)
PCDH11X fusions, the LBD of ESR1 is replaced with in-frame sequences from another gene, and therefore the drug binding domain that endocrine therapies recognize is absent. (healthyhormonesclub.com)
These two fusions promoted endocrine therapy resistant cell proliferation and constitutively activated ER target genes. (healthyhormonesclub.com)

Transcription factors (TFs) could act as tumor suppressors or oncogenes in cancer progression. (bvsalud.org)
As the patient tested negative for JAK2 rearrangements at diagnosis, the translocation must have developed during disease progression. (empiregenomics.com)

Significant changes in DNA methylation in KMT2Ar ALL were identified in 2,545 CpG loci, influenced by age and the translocation partners AFF1 and MLLT1. (scilifelab.se)
In each mechanism, PWS arises from loss of ten paternally expressed loci, while AS arises from loss of function of the maternally expressed UBE3A gene [ 1 ]. (biomedcentral.com)
Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)

All 12 ALHE cases lacked FOS gene abnormalities, suggesting different pathogenesis. (tmu.edu.tw)

and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)

In a subset of RTS patients, microdeletions, translocations, and inversions involving chromosome band 16p13.3 can be detected. (bmj.com)

The genetic changes that underlie FOXP2 -related speech and language disorder disrupt the activity of the FOXP2 gene. (medlineplus.gov)

Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. (lu.se)
Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)

The normal versions of genes in the first group are called proto-oncogenes. (cancerquest.org)
Numerous genes have been identified as proto-oncogenes. (cancerquest.org)

The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. (abcam.com)

LS regions are rich in transposons and genes with distinct evolutionary profiles but related to pathogenicity, indicative of horizontal acquisition. (nature.com)

Reverse sequence analysis showed that the MLLT1 gene was fused to the 16p11.2 region. (cancerindex.org)

It also reveals the sequences of clonal rearrangements, therefore, the multiclonal structure, of BCP-ALL. (frontiersin.org)
Two indicators of clonal complexity were used, namely, the number of foster clones, described as clones with similar D-N 2 -J rearrangements but other V-rearrangement and N 1 -joining, and the maximum across all foster clones of the number of evolved clones from one foster clone. (frontiersin.org)

Precursor B and T cells assemble functional immunoglobulin (Ig) and T cell receptor (TCR) genes via recombination of numerous variable (V), diversity (D), and joining (J) gene segments. (wustl.edu)

Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)

Empire Genomics' RP11-451A20 FISH probe was used to confirm duplication and rearrangement of 3p. (empiregenomics.com)
FISH probes from Empire Genomics verified the 1qter and 10qter rearrangement after microarray analysis. (empiregenomics.com)

Researchers are working to determine which of these genes are involved and how changes in their activity lead to abnormal speech and language development. (medlineplus.gov)

The transcription initiation TFIID complex is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). (embl-heidelberg.de)
Discussion at the Vancouver meeting spanned several areas of research, including signaling pathway activation of EMT and the transcription factors and gene targets involved. (rupress.org)
Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
In general, ACEs act as conduits for transcription factors, which in turn recruit enzymes that covalently modify or remodel nucleosomes. (wustl.edu)
This is a "connection" page, showing publications Kelly Maloney has written about Transcription Factors. (ucdenver.edu)

Anatomy14

Organisms4

Diseases15

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment17

Phenomena and Processes63

Information Science3

Deletions10

Mutations17

Tumors6

Chromosomes5

Proteins9

Acute11

Chromatin5

Tumor suppr6

Transcriptional8

Androgen-regulated gene1

Fusion32

Fluorescence5

Oncogenic2

Partner genes1

Protein-codin2

Encodes4

KMT2A1

Regulation2

Mental retardation1

Cancers5

RARA2

Locus3

Apoptosis3

Expression19

Factor15

Deletion4

Activates2

Lymphoid1

Myeloid3

Genome7

Family of transcription factors1

Mutation3

Leukemia1

Fusions4

Progression2

Loci3

Pathogenesis1

Confer1

Inversions1

Genetic changes1

Variants2

Proto-oncogenes2

Target1

Distinct1

MLLT11

Clonal2

Recombination1

Directly or indirectly1

Genomics2

Abnormal1

Factors5