Tumor histone gene rearrangement. Medical search. Frequent questions

At least eight mutations in the KAT6B gene have been identified in people with genitopatellar syndrome, a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. (medlineplus.gov)
The mutations that cause genitopatellar syndrome occur near the end of the KAT6B gene in a region known as exon 18. (medlineplus.gov)
These mutations lead to the production of a shortened histone acetyltransferase enzyme. (medlineplus.gov)
More than 10 mutations in the KAT6B gene have been found to cause the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. (medlineplus.gov)
Mutations that cause the SBBYS variant of Ohdo syndrome have been identified throughout the KAT6B gene, although many of them occur in exon 18. (medlineplus.gov)
Studies suggest that these mutations likely prevent the production of functional histone acetyltransferase from one copy of the KAT6B gene in each cell. (medlineplus.gov)
The expression of HMGA2 in adult tissues is commonly associated with both malignant and benign tumor formation, as well as certain characteristic cancer-promoting mutations. (wikipedia.org)
This tumor also had the highest quantity of sequence mutations inside the WGS series, with six non silent mutations in 5 genes, IDH1,p. (gsk-3inhibitors.com)
H3F3A, WHSC1 and three other genes identified to possess mutations in discovery series tumors, ATRX, EP300, and CHD2, have histone connected functions. (gsk-3inhibitors.com)
While the precise mechanism underlying activation of the ALT pathway is unclear, mutations in the chromatin remodeling protein ATRX, histone chaperone DAXX, and the histone variant H3.3 correlate with ALT status. (oncotarget.com)
A series of histopathologically confirmed formalin-fixed, paraffin-embedded SCLC specimens were analysed for epidermal growth factor receptors ( EGFR ) , KRAS, NRAS and BRAF mutations, ALK gene rearrangements and MET amplification. (biomedcentral.com)
No mutations in EGFR , KRAS and NRAS were detected, and no ALK gene rearrangements or MET gene amplifications were identified. (biomedcentral.com)
Table 1 provides a summary of cancers and gene mutations. (frontiersin.org)
It involves pre-existing (inherent) genetic mutations and heterogeneity of tumors. (creativebiolabs.net)
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)
The gene that encodes the CREB binding protein, or CBP (also called CREBBP ), was cloned in 1995, and mutations in this gene have been found in some patients with Rubinstein-Taybi syndrome. (medscape.com)
In addition, approximately 3% of patients with true Rubinstein-Taybi syndrome or a phenotype that resembles it show mutations in the EP300 gene, underscoring the genetic heterogeneity of the disorder. (medscape.com)
The relatively low percentage (20%) of patients without deletions who have demonstrable mutations involving CBP may be due to an inability to identify all alterations that could be present in the gene or in its upstream or downstream regulatory regions. (medscape.com)
For example, loss of function mutations of the EZH2 gene are seen in around 10% of MDS/MPN cases and are associated with poor prognosis. (medscape.com)
Loss-of-function mutations of ASXL1 , which encodes a protein that recruits the PRC2 complex to the histones, is a driver event in some cases of MDS/MPN. (medscape.com)
Splicing factor mutations alter splicing in different ways and affect the expression of different genes involved in RNA splicing, protein synthesis, and mitochondrial function, suggesting common mechanisms of action in MDS. (medscape.com)
Mutations in two genes, CBP (CREBBP) and EP300 , have been identified in affected individuals. (medscape.com)
Disruption of the human CBP gene, either by gross chromosomal rearrangements or by point mutations, leads to Rubinstein-Taybi syndrome. (medscape.com)
Point mutations and small deletions or insertions of the CBP and EP300 genes 3,18,19, as well as deletions and duplications 41000 bp in length to megabases, have been shown to lead to Rubinstein-Taybi syndrome. (medscape.com)
[ 12 ] reported EP300 gene mutations in 3 (3.3%) of 92 patients with either true Rubinstein-Taybi syndrome or different syndromes resembling Rubinstein-Taybi syndrome. (medscape.com)
These are as follows: sustained proliferative signalling, cell death resistance, replicative immortality, genome instability and increased mutations, tumour-promoted inflammation, insensibility to growth repressors, deregulation of cellular energetics, evasion of immune destruction, induction of metastasis, and promotion of angiogenesis. (hindawi.com)
Importantly, it is shown that mutations affecting the isocitrate dehydrogenase (IDH) 1 and 2 genes, one of the most frequent genetic alterations in gliomas, lead to genome-wide DNA hypermethylation and the consequent IE dysfunction. (biomedcentral.com)
Genetic mutations in thyroid cancer may be divided into the following two mutations: (1) BRAF/RAS point mutation and (2) RET/PTC chromosomal rearrangement [ 11 ]. (jpmph.org)
DNA sequencing of 623 genes with known or potential relationships to cancer revealed more than 1,000 somatic mutations across the samples. (kb.se)
These data provide evidence of somatic mutations in primary lung adenocarcinoma for several tumour suppressor genes involved in other cancers--including NF1, APC, RB1 and ATM--and for sequence changes in PTPRD as well as the frequently deleted gene LRP1B. (kb.se)

These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. (medlineplus.gov)
She focuses on the genes and proteins that are important in inhibiting cell death following chemotherapy, such as the BCL2 family of proteins and cell surface "death" receptors. (ladydavis.ca)
Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)
[ 2 ] Histones are proteins that both provide structural support for DNA (DNA wraps around a core of histones to form nucleosomes) and are involved in the regulation of gene expression. (medscape.com)
gene rearrangementsMBDmethyl\CpG\binding site proteinMeCP2methyl CpG binding proteins\2NSGNOD.Cg\PrkdcscidIl2rgtm1Wjl/SzJqRT\PCRquantitative genuine\time PCRSOCSsuppressor of cytokine signalingT\ALLT\cell lineage severe lymphoblastic leukemiaThT\helperTSATrichostatin A 1. (thetechnoant.info)
Fu et al was the first to display cyclin D1 is definitely recruited in the context of local chromatin which in turn recruited chromatin modifying proteins (SUV39 HP1α p300 HDAC 1 and HDAC 3) and modified the acetylation and methylation of chromatin connected histones [5]. (healthyguide.info)
Both genes are highly conserved, and their proteins are thought to have 2 functions: (1) formation of a bridge or scaffold between the DNA-binding transcription factors and the RNA polymerase II complex and (2) serving as histone acetyltransferases that open the chromatin structure, a process essential for gene expression. (medscape.com)
Upon cytokine activation receptor chain- bound STATs are then phosphorylated on the tyrosine residues, which results in dimerisation of STAT proteins that translocate to the nucleus and activate gene transcription. (openrheumatologyjournal.com)

The study identified 2 genes known to contribute to tumor progression and 8 known to be present in tumor cells but which have unknown functions. (frontiersin.org)
The dynamic changes of the tumor microenvironment in the course of treatment mediates tumor progression and affects treatment efficacy. (creativebiolabs.net)
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)
Studies have focused on the genetic and epigenetic status of CAFs, since they are critical in tumor progression and differ phenotypically and functionally from normal fibroblasts. (spandidos-publications.com)
This gene product is involved in cell cycle progression, p53-mediated apoptosis, transcription activator of several other oncogenes [ 4 ] and DNA repair [ 5 ]. (biomedcentral.com)
DBC1 functions as a coactivator for AR-V7 and is required for the expression of AR-V7 target genes including CDH2, a mesenchymal marker linked to CRPC progression. (cancerindex.org)
His Cancer research study combines topics in areas such as Cellular differentiation, Apoptosis, N-Myc, Tumor progression and Regulation of gene expression. (research.com)
His research in Cancer research intersects with topics in Phenotype, Suppressor, Downregulation and upregulation, Oncogene and Tumor progression. (research.com)
His primary areas of investigation include Neuroblastoma, Cancer research, Tumor progression, Chemistry and Genome. (research.com)
His Tumor progression research integrates issues from Apoptosis, Mitochondrion, Mitochondrial ROS and Downregulation and upregulation. (research.com)

Moreover, these long noncoding RNAs were transcriptionally regulated by epigenetic modification, including DNA methylation and histone methylation modification. (cancerindex.org)
Two main types of epigenetic changes are DNA methylation and histone methylation/acetylation. (creativebiolabs.net)

Researchers suspect that the shortened enzyme may function differently than the full-length version, altering the regulation of various genes during early development. (medlineplus.gov)
A shortage of this enzyme impairs the regulation of various genes during early development. (medlineplus.gov)
These changes likely alter histone modification, which could prevent normal regulation of gene activity. (medlineplus.gov)
Impaired gene regulation may contribute to the growth of cancers by allowing abnormal cells to grow and divide uncontrollably. (medlineplus.gov)
Next, the expression model, prognostic roles, potential biological functions and epigenetic regulation of tumor suppressor long noncoding RNAs were investigated and validated in the breast cancer and pancancer cohorts. (cancerindex.org)
Our result that hypoxia mediates the accumulation of Ago2 in a C P4H dependent method is exciting given that this can be a 2nd mechanism, also to HIF 1 mediated transcriptional regulation, that cells under reduced oxygen stress can use to modulate gene expres sion. (gsk-3inhibitors.com)
Therefore, we spec ulate the selleckchem modulation of localization and activities of Ago2 serves as an alternate mechanism to augment miRNA medi ated gene regulation underneath a problem of constrained amount of Dicer in the cell. (gsk-3inhibitors.com)
To date, most of our understanding of epigenetic regulation and its participation in leukemogenesis is based on the enzymatic activities and protein-protein interactions of histone and DNA modifiers. (frontiersin.org)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)
The Cancer research study combines topics in areas such as Cell growth, Cancer cell, Regulation of gene expression, Gene and N-Myc. (research.com)
His Regulation of gene expression research focuses on Chromatin immunoprecipitation and how it relates to N-Myc, Signal transduction and Binding protein. (research.com)
His Cancer research research incorporates elements of Chromatin, Binding protein, Regulation of gene expression and N-Myc. (research.com)
Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. (kb.se)
Such candidate based analysis of features within cis regulatory element on a gene can help elucidate intricate genomic architecture, gene regulation and its impact on complex disorders. (fortuneonline.org)

DNA methylation is an important epigenetic process to silence individual genes effectively. (creativebiolabs.net)
Overall, epigenetic alterations such as oncogenes activated through hypermethylation and tumor suppressors silenced through hypermethylation are recognized as the causes of drug resistance in different kinds of cancers. (creativebiolabs.net)
The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
Since the molecular mechanism underlying securin upregulation remains unclear, this study intended to investigate the association of securin upregulation with the Rb-E2F1 circuit and epigenetic histone (H3) modification patterns both globally and in the promoter region of the securin gene. (biomedcentral.com)
Epigenetic mechanisms underlying GBM tumor biology, including histone modifications, DNA methylation, and chromatin architecture, have become an attractive target for novel drug discovery strategies. (biomedcentral.com)
Epigenetic alterations are heritable changes in gene expression that do not affect the DNA sequence [ 3 ], and cell molecular changes include DNA methylation, histone modifications, and microRNAs [ 4 , 5 ]. (jpmph.org)

High-mobility group AT-hook 2, also known as HMGA2, is a protein that, in humans, is encoded by the HMGA2 gene. (wikipedia.org)
This gene encodes a protein that belongs to the non-histone chromosomal high-mobility group (HMG) protein family. (wikipedia.org)
HMGA2 does not directly promote or inhibit the transcription of any genes, but alters the structure of DNA and promotes the assembly of protein complexes that do regulate the transcription of genes. (wikipedia.org)
The let-7a miRNA normally represses the HMGA2 gene, and in normal adult tissues, almost no HMGA2 protein is present. (wikipedia.org)
What does this gene/protein do? (cancerindex.org)
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)
Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
Genes whose protein products can directly or indirectly prevent cell division or lead to cell death. (cancerquest.org)
As an example TP 53 refers to the gene and p53 refers to the protein. (cancerquest.org)
This protein is involved in different signaling pathways and in basic cellular functions, such as DNA repair, cell growth, differentiation, apoptosis, and tumor suppression. (medscape.com)
Within the field of Hematopoietic Stem Cells one trainee explored the impact of SGF29, a protein that recognizes methylated histones and modulates transcription, in leukemic cancer stem cells. (ca.gov)
Here, we report that expression is epigenetically regulated by DNA methyltransferase\3A\mediated DNA methylation and methyl CpG binding protein\2\mediated histone deacetylation. (thetechnoant.info)
The biological role and underlying mechanism of action of zinc-finger protein 326 (ZNF326) in malignant tumors, including breast cancer, are still not clear. (cancerindex.org)
The locus of Rubinstein-Taybi syndrome is located on band 16p13.3, which includes a gene encoding a binding protein for cyclic adenosine monophosphate-response element binding protein (CBP) ( CREBBP or CBP gene) that is responsible for the phenotype of Rubinstein-Taybi syndrome. (medscape.com)
The EP300 gene on band 22q13 encodes a protein, p300, that is highly similar to CREBBP. (medscape.com)
Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. (kb.se)

Somatic changes involving the KAT6B gene have also been identified in some people with uterine leiomyomas, which are noncancerous growths in the uterus that are also known as uterine fibroids. (medlineplus.gov)
Despite the paucity of somatic lesions in most tumors, many SVs likely resulting from a single complex rearrangement occasion have been detected in 5 cerebral tumors, SJLGG039, SJLGG038, SJLGG033, SJLGG035 and SJLGG005, with 19, 13, 5, four and 3 SVs respectively. (gsk-3inhibitors.com)

No other tumor within the complete study cohort harbored an IDH1 2 mutation. (gsk-3inhibitors.com)
Important abnormalities within the other three tumors from the WGS series have been an ETV6 NTRK3 fusion linked with CDKN2A deletion, an H3F3A mutation, in addition to a rearrangement of WHSC1. (gsk-3inhibitors.com)
controlled for UV-induced mutational load by comparing mutated genes-of-interest against a baseline level of intronic mutation. (frontiersin.org)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
Molecular analysis has demonstrated a mutation detection rate of as much as 56% in the CBP gene in patients with Rubinstein-Taybi syndrome. (medscape.com)
It has been reported that compared to tumor cells of sporadic thyroid cancer, thyroid cancer cells of nuclear disaster survivors showed higher cases of RET/PTC chromosomal rearrangement mutation than the BRAF/RAS point mutation. (jpmph.org)

This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)

Genes involved in histone modification are frequently mutated in non-Hodgkin lymphoma. (ladydavis.ca)
METTL3 exerts synergistic effects on m6A methylation and histone modification to regulate the function of VGF in lung adenocarcinoma. (cdc.gov)

Genetic changes involving the KAT6B gene have been associated with certain types of cancer. (medlineplus.gov)
The genetic changes are chromosomal rearrangements (translocations) that disrupt the region of chromosome 10 containing the KAT6B gene. (medlineplus.gov)
The genetic change associated with uterine leiomyomas is a translocation between the region of chromosome 10 containing the KAT6B gene and a particular region of chromosome 17. (medlineplus.gov)
Two studies used targeted gene panels and identified genetic aberrations in 15 % (9 gene panel) and 6.2 % (6 gene panel) of patients with SCLC [ 2 , 15 ]. (biomedcentral.com)
These studies implicate a potential mechanism suppressing the loss of genetic material after chromosome pulverization, although how distinct patterns of rearrangements arise in cancer and germline disorders remains unclear. (nature.com)
D1 was originally identified as a candidate oncogene activated inside a subset of parthyroid tumors through genetic rearrangement [1]. (healthyguide.info)
Genetic Tumour Syndromes. (epfl.ch)
In a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non- BRCA1 and - BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population. (biomedcentral.com)

Our first trainee focused on the impact of pseudouridine in coding and noncoding RNAs as an effector of glioblastoma stem cells (GSC) and the development of glioblastoma multiforme brain tumors. (ca.gov)

The genes in the second group are called tumor suppressors. (cancerquest.org)
A useful analogy to consider when thinking about tumor suppressors and oncogenes is an automobile. (cancerquest.org)
utilizes a combination of high-resolution comparative genomic hybridization, short hairpin RNA inhibition of target genes at the locations of focal genomic deletions, and a primed cell mosaic mouse model to identify novel tumor suppressors in hepatocellular carcinoma. (biomedcentral.com)
The specific effects that lead to inactivation of these pro-apoptotic or senescence pathways may impinge on major known tumor suppressors such as p53, but may also be due to effects on other genes and molecules within the p53 or other tumor suppressor pathways [ 5 ]. (biomedcentral.com)

Acquired drug resistance refers to a non-cell-autonomous mechanism, which is based on the treatment process related to changes in the tumor microenvironment after treatment. (creativebiolabs.net)
The tumor microenvironment mediated drug resistance is associated with tumor cells and their pericellular matrix. (creativebiolabs.net)
The tumor microenvironment includes various types of cells and extracellular components, such as normal stromal cells, extracellular matrix, cytokines, growth factors, and signaling molecules. (creativebiolabs.net)
The tumor microenvironment-driven significant non-cell-autonomous mechanism of resistance is a critical mechanism that can resist various types of antineoplastic drugs, causing the failure of anti-cancer treatment. (creativebiolabs.net)
Moreover, advances in the development of targeted therapies and tumor microenvironment targeted treatments can regulate the efficacy and effectiveness of antineoplastic drugs, providing new strategies for combinations of antineoplastic drugs to prevent, delay, or even overcome drug resistance. (creativebiolabs.net)
Cancer-associated fibroblasts (CAFs) are one major type of component identified in the tumor microenvironment. (spandidos-publications.com)

identified 189 frequently mutated genes associated with these cancers, most of which were not previously known. (frontiersin.org)

Identification of the deletion, amplification, and rearrangement of this gene that are associated with lipomas suggests a role in adipogenesis and mesenchymal differentiation. (wikipedia.org)
Senescent hepatocytes lose the telomeric repeats that protect chromosomal ends from inter- and intra-chromosomal fusion, deletion, rearrangement, and transposition events that contribute to genomic instability. (biomedcentral.com)

The apparent function of HMGA2 in proliferation and differentiation of cells during development is supported by the observation that mice with mutant HMGA2 genes are unusually small (the pygmy or mini-mouse phenotype), and genome-wide association studies linking HMGA2-associated SNPs to variation in human height. (wikipedia.org)
Data from whole transcriptome sequencing of 33 breast specimens in the Harbin Medical University Cancer Center cohort and The Cancer Genome Atlas was applied to identify and validate the landscape of tumor suppressor long noncoding RNAs, which was further validated by The Cancer Genome Atlas pancancer data including 33 cancer types and 12,839 patients. (cancerindex.org)
in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
In order to further classify the chromosomal abnormalities we used spectral karyotyping (SKY) a whole genome painting assay that can recognize complex genomic rearrangements. (healthyguide.info)
27nt-RNAs guide histone variant deposition via 'RNA-induced DNA replication interference' and thus transmit parental genome partitioning in Stylonychia. (uni-bielefeld.de)
Matthias Fischer combines subjects such as RNA-Seq, Computational biology, Human genetics and Human genome with his study of Gene expression profiling. (research.com)
In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
Here we use a well-known human tumor suppressor gene, Breast Cancer Type 1 ( BRCA1 ) and UCSC human genome browser database to report the in-silico putative cis regulatory enhancer element and its features. (fortuneonline.org)

These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
CBP has significant histone acetyltransferase activity and "opens" the chromatin structure so that transcription factors can enter and regulate gene expression. (medscape.com)
Cyclin D1 therefore regulates transcription in the chromatin level by interacting with histone deacetylases and various transcription factors to regulate genes that contribute to differentiation and proliferation [4]. (healthyguide.info)
It also modulates gene transcription and recombination [ 7 ]. (hindawi.com)
Transcription-facilitating histone chaperons interact with genomic and synthetic G4 structures. (nih.gov)
Genomic cis regulatory elements support the gene transcriptional landscape which fine tune spatiotemporal gene expression via interaction with different transcription factors and co modulators during development. (fortuneonline.org)
GH17J043079 showed histone activity in human embryonic stem cells, cancerous cells, housed transcription factors specific to liver cells and was enriched with Alu elements, indicative of ability for potential gene rearrangements. (fortuneonline.org)

Understanding the activity of this gene will allow for an improved understanding of how cells can survive DNA damage leading to genomic rearrangements that support the initial stages of tumorgenesis and subsequent cancer development. (ca.gov)

The tumor suppressor p53 (TP53) is mutated in ~70 % of colorectal cancer (CRC) cases. (uni-goettingen.de)

This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. (cancerindex.org)

It appears to regulate genes that are important for early development, including development of the skeleton and nervous system. (medlineplus.gov)
Specific histone modifications, such as acetylation and deacetylation, could regulate gene expression and alter chromatin formation. (creativebiolabs.net)

of these intervals were within 10kb of 2 840 genes with a high denseness located within 500bp of the transcriptional start point. (healthyguide.info)
Recent studies into pre-mRNA splicing and alternative splicing (AS) and their effects on gene expression have revealed considerable transcriptional complexity in the liver, both in health and disease. (imperial.ac.uk)

By adding a small molecule called an acetyl group to particular locations on histones, histone acetyltransferases control the activity of certain genes. (medlineplus.gov)

The 'cancer platform' concept proposes that most oncogenic molecules also have the inherent ability to activate tumor suppressor genes or pathways through oncogene-induced apoptosis or senescence, thus limiting their oncogenic effects in a homeostatic fashion. (biomedcentral.com)
We next interrogated the practical pathways associated with the genes bound by cyclin D1. (healthyguide.info)
In this review, we showcase recent studies on the splicing and AS of key genes in metabolic pathways in the liver, the effect of metabolic signals on the spliceosome, and therapeutic intervention points based on RNA splicing. (imperial.ac.uk)

As the number and characteristics of such alleles are undetermined, a focussed candidate gene approach based on genes closely interacting with the known susceptibility genes such as BRCA1 and BRCA2 , the two major susceptibility genes identified yet, constitutes a study design of choice to identify rare-moderate-penetrance susceptibility alleles. (biomedcentral.com)

ChIP-qPCR assays were performed to evaluate the recruitment of different histone modifications in the core promoter region of securin gene as well as its upstream and downstream regions. (biomedcentral.com)

Low2grade B cell lymphomas with plasmacytic differentiation lack PAX5 gene rearrangements. (wgzs.cn)

During the treatment of cancers, some resistant cancer cells can survive, mutate, and propagate, eventually creating new heterogeneous tumors and causing cancer relapses over time. (creativebiolabs.net)
A diagram showing the major cancer genes for some cancers. (cancerquest.org)
Raw areca nut (RAN) consumption induces oral, esophageal and gastric cancers, which are significantly associated with the overexpression of pituitary tumor transforming gene 1/securin and chromosomal instability (CIN). (biomedcentral.com)

Klotho overexpression is frequently associated with upstream rearrangements in fusion-negative phosphaturic mesenchymal tumors of bone and sinonasal tract. (cdc.gov)

Current concepts suggest that a limited number of molecular alterations involving oncogene activation and tumor suppressor inhibition are responsible for initiation of cancer. (biomedcentral.com)

Genes Chromosomes Cancer 2022 Sep;61(9):542-550. (nih.gov)
The 2022 World Health Organization Classification of Tumors of the Urinary System and Male Genital Organs-Part B: Prostate and Urinary Tract Tumors. (who.int)

Cyclin D1 promoter occupancy assessed by ChIP-ChIP technology mapped cyclin D1 to approximately 900 genes [6]. (healthyguide.info)
We used ChIP to verify that cyclin D1 bound the regulatory regions of genes involved in mitosis and QT-PCR to demonstrate the LY2157299 gene transcripts were induced in cyclin D1 rescued fibroblasts. (healthyguide.info)
Within a mammary gland particular Tet-inducible model the severe expression profile governed by cyclin D1 after seven days was enriched in genes that rank extremely with CIN. (healthyguide.info)

ATRX and DAXX facilitate deposition of the histone variant H3.3 within heterochromatic regions suggesting that loss of ATRX, DAXX, and/or H3.3 lead to defects in the stability of telomeric heterochromatin. (oncotarget.com)

Constitutional syndromes such as Down syndrome and ataxia-telangiectasia are associated with increased risk of B-cell-ALL (with CRLF2 rearrangement) and T-cell-ALL, respectively. (haematologica.org)

HMGA2 targets and modifies the chromatin architecture at the ERCC1 gene, reducing its expression. (wikipedia.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Mechanistically, EPB41L4A-AS2, acting at least in part as a tumor suppressor, upregulated tumor suppressor gene expression. (cancerindex.org)
CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)
The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)
This analysis led to the discovery of a population of preadipocyte cells whose gene expression is remodeled in an age-specific fashion. (ca.gov)
We found that was differentially expressed in primary T\ALL and its expression levels were lowered in gene rearrangements. (thetechnoant.info)
Neuroblastoma, Cancer research, Gene expression profiling, Bioinformatics and Survival analysis are his primary areas of study. (research.com)
Matthias Fischer has researched Bioinformatics in several fields, including Microarray, DNA microarray, Cancer and Gene expression profiling. (research.com)
The study incorporates disciplines such as RNA-Seq and Survival analysis in addition to Gene expression profiling. (research.com)
Luciferase reporter gene assay of the promoter construct bearing this variant did not suggest a variation of expression in the MCF-7 breast cancer cell line, but indicated a reduction of luciferase expression in both the HEK293 and LNCaP cell lines. (biomedcentral.com)
These results are reinforced by data integration including single nucleotide polymorphism array and gene expression array. (kb.se)
These regulatory elements are poorly conserved, highly heterogenous with limited understanding of their role in gene expression. (fortuneonline.org)

Therefore, the use of 5 cosmids covering the entire gene for fluorescence in situ hybridization (FISH) in order to identify more proximal deletions is recommended. (medscape.com)
In certain circumstances, when a lymph node is not easily accessible for excisional or incisional biopsy, a combination of core biopsy and FNA biopsies in conjunction with appropriate ancillary techniques for the differential diagnosis (immunohistochemistry, flow cytometry, PCR for IGHV and TCR gene rearrangements, karyotype, and fluorescence in situ hybridization [FISH] for major translocations) may be sufficient for diagnosis. (medscape.com)

Misregulation of genes that govern the mitotic phase often lead to chromosomal instability (CIN). (healthyguide.info)

Here, we report that is epigenetically regulated by DNA methylation and histone deacetylation. (thetechnoant.info)

Diffuse intrinsic pontine gliomas (DIPG) are incurable pediatric high-grade tumors. (uni-goettingen.de)
Dr Waszak is a member of the International UCSF DIPG/DMG Tumor Board, the National DIPG/DMG Tumor Board, and the Pacific Pediatric Neuro-Oncology Consortium (pnoc.us). (epfl.ch)

Increased trimethylation of H3 lysine 4 and acetylation of H3 lysine 9 and 18 both globally and in the promoter region of the securin gene were observed by increasing the levels of lysine-N-methyltransferase 2A, lysine-acetyltransferase, EP-300 and PCAF after RAN treatment. (biomedcentral.com)

Refinement and validation of a comprehensive clinical diagnostic model (GAMAD) based on gender, age, multitarget circulating tumour DNA methylation signature and commonly used serological biomarkers for early detection of hepatocellular carcinoma: a multicentre, prospective observational study protocol. (cdc.gov)

A more comprehensive analysis of 236 cancer genes using next generation sequencing demonstrated all 98 patients to have at least one genomic alteration [ 14 ]. (biomedcentral.com)

[ 9 ] Approximately 10-12% of patients with Rubinstein-Taybi syndrome have deletions of CBP , and a smaller percentage have complex cytogenetic rearrangements involving the region of chromosome 16p that contains the gene. (medscape.com)

The paucity of patients with sufficient tumour tissue, quality of DNA extracted and low frequency of aberrations detected indicate that alternative molecular characterisation approaches are necessary, such as the use of circulating plasma DNA in patients with SCLC. (biomedcentral.com)

This alteration suggests a copy number gain of 1 in about 25% of cells inside the tissue sample, whilst inhibitor NU7441 the pattern of SVs and copy number variations suggests that focal amplicons are remnants of low level chromosomal gains followed by loss of DNA within a complex rearrangement termed chromothripsis 23. (gsk-3inhibitors.com)
EZH2 encodes the catalytic subunit of the polycomb repressive complex 2 (PRC2), a histone-modifying enzyme. (medscape.com)
Sequencing of daughter cell pairs derived from micronucleated mother cells demonstrated that complex rearrangements are indeed a common outcome of micronucleus formation. (nature.com)

It is unclear how this translocation is related to tumor development. (medlineplus.gov)
The truncated mRNAs may arise from a chromosomal translocation that results in loss of a portion of the HMGA2 gene. (wikipedia.org)
A cytogenetic abnormality that refers to a translocation involving the BRD3 gene. (nih.gov)

MYC gene re-arrangements are associated with a poor prognosis in diffuse large B cell lymphoma patients treated with R-CHOP chemotherapy. (ladydavis.ca)
The genes that have been identified to date have been categorized into two broad categories, depending on their normal functions in the cell. (cancerquest.org)
We have two copies of each gene and for oncogenes, a single defective copy is enough to cause a cell to divide. (cancerquest.org)
Many of these genes are responsible for providing the positive signals that lead to cell division. (cancerquest.org)
As stated in the introduction to this section, the defective versions of these genes, known as oncogenes, can cause a cell to divide in an unregulated manner. (cancerquest.org)
This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.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)
A second trainee focused on developing a fluorescent marker to allow for the characterization of a CAR-T cell population as it interacts with the targeted brain tumor. (ca.gov)
Specifically, the trainee looked at the ability of an endothelial cell AGO 1 gene knockout to rescue streptozotocin-induced damage in female mice. (ca.gov)
Our final student worked to introduce a "suicide gene" construct into engineered in iPSCs for the generation of the insulin-producing -cell to treat type 1 diabetes patients. (ca.gov)
However, in most cases, these patterns of chromothripsis differed from those in cancer genomes as the rearrangements were largely restricted to a single daughter cell and lacked the canonical oscillations in DNA copy-number states 2 . (nature.com)
The effect of the promoter variant was further studied by luciferase gene reporter assay in MCF-7, HEK293, HeLa and LNCaP cell lines. (biomedcentral.com)
Formerly known as glioblastoma multiforme, the term "multiforme" reflects a robust heterogeneous variety of cell types coexisting within the tumor. (biomedcentral.com)

Glioblastoma (GBM) is the most aggressive primary brain tumor, having a poor prognosis and a median overall survival of less than two years. (biomedcentral.com)

No other genes in this area are thought to contribute to the phenotype. (medscape.com)

Glioblastoma (GBM) is the most aggressive type of primary brain tumor. (biomedcentral.com)

Cancer cells try to avoid the overproduction of reactive oxygen species by metabolic rearrangements. (hindawi.com)
The relevance of IEs has also been observed in a small population of cancer stem cells known as glioma stem cells (GSCs), which are thought to participate in GBM tumor initiation and drug resistance. (biomedcentral.com)

Anatomy20

Organisms13

Diseases38

Chemicals and Drugs68

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Phenomena and Processes100

Disciplines and Occupations1

Information Science5

Health Care1

Mutations30

Proteins9

Progression10

Methylation and histone methylation2

Regulation14

Epigenetic7

Protein16

Somatic2

Mutation6

Contribute to tumor1

Modification2

Genetic8

Brain Tumors1

Suppressors4

Microenvironment6

Frequently mutated genes1

Deletion2

Genome8

Transcription7

Genomic rearrangements1

Suppressor p531

Loss of heterozygos1

Regulate2

Transcriptional2

Acetyltransferases1

Pathways3

Susceptibility genes1

Modifications1

Differentiation1

Cancers3

Mesenchymal1

Oncogene1

20222

Cyclin D13

ATRX1

Syndromes1

Expression14

Fluorescence in situ hybri2

Chromosomal instability1

Deacetylation1

DIPG2

Lysine1

Biomarkers1

Cancer genes1

Deletions1

Paucity1

Complex3

Translocation3

Cell13

Poor prognosis1

Phenotype1

Glioblastoma1

Cells2