Aberrant promoter methylation genes p16. Medical search. Frequent questions

Therefore, we examined the methylation status of nine genes (p16 INK4A , MGMT, GSTP1, RASSF1A, APC, DAPK, RARβ, CDH1 and CDH13) in 175 primary pediatric tumors and 23 tumor cell lines using methylation-specific PCR. (elsevierpure.com)
Status of p16(INK4a) and E-cadherin gene promoter methylation in Moroccan patients with cervical carcinoma. (hal.science)
Transcriptional silencing, as a main consequence of hypermethylation of CpG islands, is the predominant mechanism of p16(INK4a) and E-cadherin gene inactivation in malignant epithelial tumors. (hal.science)
This study was conducted to evaluate the promoter methylation status of p16(INK4a) and E-cadherin genes in 22 specimens of cervical carcinomas, four cervical cancer cell lines (HeLa, SiHa, Caski, C33A), and 20 human papillomavirus negative specimens, obtained from normal cervical swabs, using the methylation-specific PCR approach. (hal.science)
Hypermethylation of the 5' CpG island of the p16(INK4a) and E-cadherin genes were found in 13 (59.1%) and 10 (45.5%) of 22 cervical cancer samples, respectively. (hal.science)
Furthermore, our findings did not show any correlation between promoter methylation of p16(INK4a) and E-cadherin genes and clinicopathological parameters, including HPV infection, phenotypic distribution, and stage of the disease. (hal.science)
However, hypermethylation of E-cadherin gene promoter appears to be age related in cervical cancer, whereas the frequency of aberrant methylation of p16(INK4a) gene promoter is unchanged according to the age of patients. (hal.science)
Transcription levels of Dnmt1, mbd2, MeCP2, p16 INK4A , hMSH2 and c-myc were detected by using real-time PCR or RT-PCR. (wjgnet.com)
Promoter methylation of p16 INK4A , c-myc and hMSH2 genes was assayed by methylation-specific PCR (MSP) and sequencing (mapping). (wjgnet.com)
The transcriptional levels of p16 INK4A and MeCP2 genes did not display any difference between gastric cancerous and matched non-cancerous tissues. (wjgnet.com)
In samples from 47 patients with malignant pleural effusions and 34 with nonmalignant effusions, we used a methylation-specific polymerase chain reaction to detect aberrant hypermethylation of the promoters of the DNA repair gene O 6 -methylguanine-DNA methyltransferase (MGMT), p16 INK4a , ras association domain family 1A (RASSF1A), apoptosis-related genes, death-associated protein kinase (DAPK), and retinoic acid receptor β (RARβ). (elsevierpure.com)
Patients with hypermethylation of MGMT, p16 INK4a , RASSF1A or RARβ were 5.68 times more likely to have malignant effusions than patients without methylation (p = 0.008). (elsevierpure.com)

Over the past 10 years we have been witness to an explosion of investigation into the epigenetic basis of cancer, and application of the powerful genome-wide DNA methylation profiling techniques to be reviewed have yielded critical insights into the organization of the cancer methylome with its broad regions of hypomethylation and foci of hypermethylation resulting in critical differences in gene expression and chromosomal stability compared to normal cells. (esmed.org)
Work done in the last decade has also demonstrated that ncRNAs with growth-inhibitory functions can undergo promoter CpG island hypermethylation-associated silencing in tumorigenesis. (oncotarget.com)
In particular, we have identified that promoter CpG island hypermethylation of the genes TUSC3 (tumor suppressor candidate 3), POMT1 (protein O-mannosyltransferase 1), ATRNL1 (attractin-like 1) and SAMD4A (sterile alpha motif domain containing 4A) is linked to the transcriptional downregulation of both linear mRNA and the hosted circRNA. (oncotarget.com)
Global CpG island hypermethylation, which induces epigenetic silencing of tumor suppressor genes, is also a unique feature of EBVaGC and is considered to be crucial for its carcinogenesis. (spandidos-publications.com)
Hypermethylation of the EDN3 promoter could be identified as the predominant mechanism leading to gene silencing. (biomedcentral.com)
Furthermore, EDN3 promoter hypermethylation was detected in 70% of primary breast carcinomas with significant association to loss of EDN3 mRNA expression ( P = 0.005), whilst normal matched breast tissues revealed no EDN3 promoter methylation. (biomedcentral.com)
amplified EDNRB and one of these samples also experienced p16 hypermethylation. (hiv-proteases.com)
An epigenetic pathway of transcriptional inactivation for many tumor suppressor genes (TSG) includes CpG island hypermethylation within promoter regions.9 10 This pathway has been identified in many different cancers and recent studies Mithramycin A have focused on promoter hypermethylation in HNSCC.11 12 Promoter hypermethylation in tissue samples can be detected by using real-time quantitative methylation-specific polymerase chain reaction (RT-Q-MS PCR). (hiv-proteases.com)
Endothelin receptor type B (EDNRB) deleted in colorectal carcinoma (DCC) and cyclin-dependent kinase inhibitor 2A (CDKN2A or p16) were screened for hypermethylation in serum from HNSCC patients and normal control volunteers. (hiv-proteases.com)
These changes are characterized by a globally hypomethylated genome with focal hypermethylation of numerous 5'-cytosine-phosphate-guanine-3' (CpG) islands, often spanning gene promoters and first exons. (frontiersin.org)
It has been proved that BaP reduced genome-wide DNA methylation, and activated proto-oncogene by hypomethylation in the promoter region, but silenced tumor suppressor genes by promoter hypermethylation, resulting in cancer initiation and progression. (biomedcentral.com)
Secondly, the locally hypermethylation of the tumor suppressor gene promoter, and thirdly, 5mC-containing-DNA sequences or direct mutations exposed to ultraviolet light or other carcinogens [ 9 ]. (biomedcentral.com)
Despite the substantial demethylation, however, UHRF1 depletion only minimally reversed CpG island hypermethylation-associated gene silencing. (biomedcentral.com)
Cancer cells are characterized by dual DNA methylation-related changes: global hypomethylation, which can induce chromosomal instability and oncogene activation, and regional hypermethylation, which is associated with transcriptional silencing. (biomedcentral.com)
Hypermethylation of CpG islands within gene promoter regions is a major cause of tumor suppressor gene inactivation, and a subset of cancers exhibits concurrent hypermethylation of multiple CpG islands, which is referred to as the CpG island methylator phenotype (CIMP) [ 3 ]. (biomedcentral.com)

Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
1998. "Alterations in DNA methylation: a fundamental aspect of neoplasia. (esmed.org)
These abnormalities result in significant alterations in gene expression related to cell proliferation, apoptosis, migration and immune signaling pathways. (spandidos-publications.com)
Furthermore, we discuss recent findings on EBV associated gastric carcinogenesis by focusing on the roles of latent genes, epigenetic abnormalities, genomic alterations, and post-transcriptional regulation by cellular and viral microRNAs (miRNAs). (spandidos-publications.com)
Abnormal alterations in methylation status specifically hyper-methylation or hypo-methylation have also been associated with abnormal tissue differentiation. (biomedcentral.com)
Epigenetics encompasses heritable changes in the pattern of gene expression mediated by mechanisms other than alterations in primary nucleotide sequence. (touchoncology.com)
Various distinct genetic abnormalities have been reported in both MM and MGUS including epigenetic alterations such as DNA and histone methylation, and are known to contribute to the pathogenesis of the disease. (touchoncology.com)
Although genetics have played a dominant role in cancer research, epigenetics (heritable changes in gene function that do not involve alterations in DNA sequence) has become equally important in this field. (aacrjournals.org)
Moreover, BaP triggered genome-wide epigenetic alterations by methylation, which might cause disturbances in regulation of gene expression, and thereby induced cancer. (biomedcentral.com)
Background: Breast cancer is a heterogeneous disease that can be subdivided on the basis of histopathological features, genetic alterations, and gene-expression profiles. (cancerindex.org)
Genome instability and aberrant alterations of transcriptional programs both play important roles in cancer. (pklab.org)
A mouse model study implicated alterations in bivalent genes in mutant H3.3 downstream function 20 . (nature.com)
Epigenetic control of gene expression lasts through multiple cell divisions without alterations in primary DNA sequence and can occur via mechanisms that include histone modification and DNA methylation. (stanford.edu)

We treated six cell lines lacking RASSF1A mRNA with 5-aza-2′deoxycytidine to examine the relationship between methylation and transcriptional silencing. (elsevierpure.com)
Furthermore, post-transcriptional gene expression regulation by cellular and/or EBV-derived microRNAs has attracted considerable attention. (spandidos-publications.com)
Recent advances in understanding the role that epigenetics plays in cancer pathogenesis and understanding the mechanisms through which these processes regulate gene expression have stimulated considerable interest in developing clinically viable antineoplastic agents that target enzymatic components of transcriptional regulatory complexes responsible for the establishment of pathologic epigenetic modifications that lead to deregulated gene expression in cancer. (aacrjournals.org)

1 Mutations in regulators of the epigenome have been identified in cancer that have roles such as 'writers', 'readers', 'erasers' or 'editors' and have the potential to deregulate the expression of hundreds of genes genome-wide. (touchoncology.com)
Eighteen genes were statistically significantly mutated, including RIT1 activating mutations and newly described loss-of-function MGA mutations which are mutually exclusive with focal MYC amplification. (nature.com)
Mutations in these genes can drive aberrant growth. (the-scientist.com)
Mutations in these genes are sometimes referred to as mutator mutations, because they stall the cell's ability to correct potentially cancer-causing mutations. (the-scientist.com)
Tumor risk can also be influenced by mutations in genes that control the fidelity of DNA replication, the efficacy of DNA repair, and the checkpoint controls involved in DNA synthesis and chromosomal mechanics. (the-scientist.com)
It is possible that missense variants of genes for which truncating mutations are clearly pathogenic may also be deleterious, but with reduced penetrance. (bmj.com)
Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. (cancerindex.org)
Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes. (amedeo.com)
Variant allelic frequency of driver mutations predicts success of genomic DNA methylation classification in central nervous system tumors. (amedeo.com)
The K27M and G34R mutations induced several of the same pathways suggesting key shared oncogenic mechanisms including activation of neurogenesis and NOTCH pathway genes. (nature.com)
Here we report successful gene editing of H3.3K27M and G34R point mutations in human normal brain and pediatric glioma cells, generating pairs of otherwise isogenic cell lines that allowed us to define epigenetic and transcriptomic changes contributing to gliomagenesis in the native genomic context. (nature.com)
Taken together, our findings suggest striking overlap between putative mechanisms of K27M and G34R mutations and point to increased NOTCH signaling playing a key role in K27M-related gliomagenesis, resulting from aberrant gene derepression due to impaired H3K27me3 deposition at super-enhancers in H3.3 mutant cells. (nature.com)
To study the transformative effects of oncohistone mutations in human pediatric gliomas in an otherwise isogenic context, we used CRISPR-Cas9 gene editing to revert H3.3K27M mutations in glioma cells back to wild type (WT) while in parallel introducing H3.3K27M and G34R point mutations into human astrocytes and H3.3WT glioma cells (Fig. 1a ). (nature.com)
Mutations and gene amplifications that confer drug resistance emerge frequently during chemotherapy, but their mechanism and timing are poorly understood. (babraham.ac.uk)
We integrated data from multiple analytes (HPV DNA, HPV RNA, and p16), assays (immunohistochemistry, polymerase chain reaction [PCR], quantitative PCR [qPCR], and digital PCR), and molecular changes (somatic mutations and DNA methylation) from 153 patients with OSCC to correlate p16 expression, HPV DNA, and HPV RNA with HPV incidence and patient survival. (univ-nantes.fr)

In particular, the p16/cyclin-dependent kinase inhibitor 2A (CDKN2A) gene located on chromosomal region 9p21 frequently is altered in several types of cancer. (iiarjournals.org)
The tumor suppressor gene p16/cyclin-dependent kinase inhibitor-2A (CDKN2A) is located within the chromosomal region 9p21 and encodes a cell-cycle protein that is an inhibitor of cyclin-dependent kinases (CDK)-4 and -6. (iiarjournals.org)
2 The p16 protein is a cyclin dependent kinase inhibitor that suppresses cell proliferation 3 and is expressed in a wide range of tissues, including the breast, and in breast cancers. (bmj.com)
Since this epigenetic change is reversible, it is a potential target for chemotherapeutic intervention using an inhibitor of DNA methylation, such as 5-aza-2'-deoxycytidine (DAC). (biomedcentral.com)
Our findings demonstrate that acquisition of MEK inhibitor resistance often occurs through gene amplification and can be suppressed by impeding cell cycle entry in drug. (babraham.ac.uk)

Immunohistochemistry and BrdU assays were used to detect MEPM proliferation and DNA methylation assays were performed to detect Tgfß2 promoter expression. (bvsalud.org)
From early techniques that measured overall DNA methylation levels to enzyme-associated techniques that interrogated methylation at a single CpG dinucleotide to present day assays that catalogue the methylation of every cytosine in the genome, technical advancement progressively has brought increasing clarity to our understanding of the complex epigenomes of normal and neoplastic cells. (esmed.org)
Across the patient journey from initial detection, to treatment and then monitoring, there are several points where DNA methylation assays can inform clinical practice. (frontiersin.org)
The reactivation of TSGs and inhibition of DNA methylation by DAC were investigated by reverse transcriptase-PCR and Line-1 assays. (biomedcentral.com)
CRC cell lines were transiently transfected with siRNAs targeting UHRF1 , after which DNA methylation was analyzed using dot blots, bisulfite pyrosequencing, and Infinium HumanMethylation450 BeadChip assays. (biomedcentral.com)
Infinium BeadChip assays and bisulfite pyrosequencing revealed significant demethylation across entire genomic regions, including CpG islands, gene bodies, intergenic regions, and repetitive elements. (biomedcentral.com)

A number of studies have shown that p16/CDKN2A is frequently altered in melanoma ( 9 ), pancreatic ( 10 ), urinary bladder ( 11 ) and lung cancer ( 12 ). (iiarjournals.org)
A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. (bmj.com)
CDKN2A appears to be a low penetrance breast cancer susceptibility gene in Poland. (bmj.com)
The CDKN2A (OMIM 600160) gene is a tumour suppressor gene that is involved in susceptibility to malignant melanoma 1 and has also been implicated in familial pancreatic cancer. (bmj.com)

Neuroblastoma patients with methylation of RASSF1A were significantly older than patients without methylation (P = 0.008). (elsevierpure.com)

Data suggest that the p16 gene, located in the short arms of chromosome 9, may play a role in ovarian carcinogenesis. (iiarjournals.org)
Oral carcinogenesis is known as multifactorial process which engaged plentiful genetic events that transform normal activity of tumor suppressor genes and oncogenes. (ujds.in)
However, the majority of DNA methylation biomarkers that have been identified are based on the hypothesis that early differential methylation regions (DMRs) are maintained throughout carcinogenesis and could be detected at all stages of cancer. (biomedcentral.com)
Carcinogenesis is accompanied by widespread DNA methylation changes within the cell. (frontiersin.org)
suggested that the relationship between carcinogenesis and methylation was mainly through the following ways: firstly, the hypomethylation of the oncogene promoter. (biomedcentral.com)

abstract = "Aberrant promoter methylation of tumor suppressor genes has not been fully investigated in pediatric tumors. (elsevierpure.com)
abstract = "Aberrant methylation in promoter-associated CpG islands has been recognized as a major mechanism for tumor suppressor gene silencing in several malignancies. (elsevierpure.com)

The study of these kinds of changes in genes is called epigenetics. (sharonlbegley.com)
Time magazine's cover story this week promises that epigenetics will show how 'the choices you make can change your genes. (sharonlbegley.com)
This week, for instance, researchers are reporting that eating leafy green vegetables, folate (found in these veggies as well as in some fruits and in dried beans and peas ), and multivitamins can affect the epigenetics of genes involved in lung cancer in a way that could reduce the risk of getting the disease, especially from smoking. (sharonlbegley.com)

Our findings indicate that aberrant promoter methylation of RASSF1A may contribute to the pathogenesis of many different forms of pediatric tumors. (elsevierpure.com)
A variety of both genetic and epigenetic abnormalities may be present in MM, the latter including DNA and histone methylation and histone deacetylation, and are thought to contribute to the pathogenesis of the disease. (touchoncology.com)

As a result, it negatively regulates cyclin-D-dependent phosphorylation of the retinoblastoma (pRb) gene product, thus blocking cell-cycle progression from G 1 -to S-phase ( 2 - 4 ). (iiarjournals.org)
These analyses revealed that atRA suppressed MEPM cell proliferation, promoted the upregulation of Meg3, and reduced the levels of Smad2 and Tgfß2 expression phosphorylation, whereas Tgfß2 promoter methylation was unaffected. (bvsalud.org)
The code is an array of post-translational modifications (acetylation, phosphorylation, methylation, ubiquitination, and sumoylation) of NH 2 -terminal tails of core histone and to a lesser degree their globular domains. (aacrjournals.org)

This pathway describes progression of a serrated precursor lesion, often followed by the onset of epigenetic instability involving promoter methylation and silencing of key tumour suppressor genes, and accounts for 15%-20% of sporadic colorectal cancer [ 1 , 2 ]. (hindawi.com)
For example, global methylation analysis in MM has identified inactivated tumour suppressor genes that are prognostically important. (touchoncology.com)

However, the transcription level of the above genes was not associated with biological behaviours of gastric cancers. (wjgnet.com)
1986. "DNA methylation patterns of the calcitonin gene in human lung cancers and lymphomas. (esmed.org)
Abnormal DNA methylation is a hallmark of human cancers and may be a promising biomarker for early diagnosis of human cancers. (biomedcentral.com)
Although silencing of some genes in cancers occurs by mutation, a large proportion of carcinogenic gene silencing is a result of altered DNA methylation [ 14 ]. (biomedcentral.com)
The ability to quantify methylation provides the potential for determination of a threshold level of methylation to improve sensitivity and specificity in detection of tumor-specific signal.13-15 The detection of DNA methylation in body fluids also has the potential to distinguish high-risk subjects that harbor occult cancers and have a higher risk for development of solid tumors in a wide variety of human cancers. (hiv-proteases.com)
Altered expression of this gene has been observed in multiple human cancers. (cancerindex.org)
Candidate genes for cancers at a particular site may be selected because they are known to predispose to malignancies in other organs, or because they are mutated somatically in the cells from the cancer of the interest. (bmj.com)

The mechanism behind this is believed to be that ID4 regulates HOXA9 and CDKN1A genes, which are mediators of cell proliferation and differentiation. (wikipedia.org)
Here, the impact of atRA on MEPM cell proliferation and associations between Tgfß2 promoter methylation, Meg3, and signaling via the Smad pathway were explored using C57BL/6N mice treated with atRA (100mg/kg) to induce fetal cleft palate formation. (bvsalud.org)
A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. (cancerindex.org)
By contrast, the combination of UHRF1 depletion and histone deacetylase (HDAC) inhibition reactivated the silenced genes and strongly suppressed CRC cell proliferation. (biomedcentral.com)

2009. "Genome-wide DNA methylation profiling using Infinium(R) assay. (esmed.org)
In this study, we identified potential early biomarkers of colorectal cancer (CRC) development by genome-wide DNA methylation assay (Illumina infinium450, 450 K) of normal ( N = 20) and pre-colorectal cancer samples including 18 low-grade adenoma (LGA) and 22 high-grade adenoma (HGA), integrated with GEO and ArrayExpress datasets ( N = 833). (biomedcentral.com)
Genome-wide DNA methylation to LGA and HGA provided an important proxy to identify promising early diagnosis biomarkers for colorectal cancer. (biomedcentral.com)

以"colorectal cancer/colorectal adenoma/colorectal polyps"、"methylation"、"stool/fecal DNA"作为关键词, 检索PubMed、Web of Kowledge和OVID(On-line Visual Display Unit Interrogation of Databases)数据库纳入研究甲 (wjgnet.com)
In this study, we examined the involvement of UHRF1 in aberrant DNA methylation and gene silencing in colorectal cancer (CRC). (biomedcentral.com)

Wang Z, Lu Y, Fornage M, Jiao L, Shen J, Li Donghui , Wei P . Identification of novel susceptibility methylation loci for pancreatic cancer in a two-phase epigenome-wide association study. (mdanderson.org)

To explore the effect of DNA methyltransferase, demethylase and methyl-CpG binding protein MeCP2 on the expressions and methylation of hMSH2 and proto-oncogene in human gastric cancer. (wjgnet.com)
The up-regulation of proto-oncogene may be the consequence of epigenetic control of gene expression by demethylase, and mbd2 is involved in the regulation of hMSH2 expression in human gastric cancer. (wjgnet.com)
The BRAF (v-raf murine sarcoma viral oncogene homolog B) gene encodes a protein that belongs to the Raf family of serine/threonine protein kinases. (hindawi.com)
Other resistance mechanisms include DNA repair, suppression of oncogene activation, tumor-suppressor genes, epigenetic stabilization of chromatin structure, and apoptosis. (the-scientist.com)

Defects of the retinoblastoma protein (pRb)/cyclin-D1/p16 pathway have been shown to play a critical role in the development of human malignancies. (iiarjournals.org)
ID4 is a protein coding gene. (wikipedia.org)
DNA methylation-based silencing in cancer typically occurs at multiple CpG sites in the CpG islands present in the promoters of protein-coding genes [ 15 ]. (biomedcentral.com)
The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
Results: We found that LOH and methylation of the PTEN promoter were significantly associated with loss of PTEN protein expression, while, PTEN mutation was a rare event. (cancerindex.org)

Smoke also methylates the gene called MGMT , which repairs DNA. (sharonlbegley.com)

The inactivation of tumor suppressor genes (TSGs) by aberrant DNA methylation plays an important role in the development of malignancy. (biomedcentral.com)

The most frequently methylated gene in both primary tumors and cell lines was RASSF1A (40, 86%, respectively). (elsevierpure.com)
RASSF1A methylation was tumor specific and was absent in adjacent non-malignant tissues. (elsevierpure.com)

In particular, it has been postulated that the "cytokine storm" caused by the exaggerated inflammatory response following SARS-CoV-2 infection, as well as micro-thrombotic hypotheses, may predispose patients with COVID-19 pneumonia to aberrant mechanisms of repair and fibrosis [ 15 ] culminating in acute lung injury and interstitial lung disease [ 16 ] . (encyclopedia.pub)
The epigenetic potential of DNA methylation inhibitors may be limited by other epigenetic mechanisms that are also worth exploring as therapeutic targets. (aacrjournals.org)
Multiple mechanisms have evolved to perform these essential functions: DNA methylation, a bewildering array of histone modifications, RNA-based regulation, etc. (aacrjournals.org)
Indeed, early cancer research focused on the fact that neoplastic cells have aberrant gene expression and differentiation states, pointing to shared mechanisms between normal development and cancer ( 2 ). (aacrjournals.org)
In addition to classical gene regulatory networks noted above, we have recently identified a central role for additional biologic mechanisms, namely gene regulation by chromatin regulators and by noncoding RNAs. (stanford.edu)
Noncoding RNA sequences can regulate gene expression via interactions with epigenetic and other control mechanisms. (stanford.edu)

Be it for development, differentiation, stemness, or sex chromosome dosage compensation, stable, cell specific regulation of gene expression is essential for normal function ( 1 ). (aacrjournals.org)
This process is mediated by 2 mutually exclusive programs of gene expression: 1) an undifferentiated program supporting proliferation by stem cells within the basal layer and 2) a differentiation program instructing growth arrest and differentiation-associated programmed cell death in suprabasal layers. (stanford.edu)
We are currently pursuing studies of the dominant signaling and gene regulatory networks that control this process, including the Ras/MAPK cascade, which is required for stem cell-mediated self-renewal and the p53 transcription factor family member, p63, which is required for epidermal differentiation. (stanford.edu)

DNA methylation and signaling via the TGFß/Smad pathway are key in regulating embryonic development. (bvsalud.org)
Pathway analysis identified nervous system-related methylation changes that are significantly associated with early adenoma development. (biomedcentral.com)
H3.3 mutant gliomas are also particularly sensitive to NOTCH pathway gene knockdown and drug inhibition, reducing their viability in culture. (nature.com)
More recently, increased expression of NOTCH pathway genes was implicated in some DIPGs and NOTCH path inhibition contributed to reduced tumor growth in culture 14 , but the specificity of these treatments for H3.3 mutant cells remains unclear. (nature.com)
Strikingly, K27M and G34R induced many overlapping changes, including reduced overall H3K27me3 and induction of NOTCH pathway genes, including ASCL1 . (nature.com)
In K27M lines, the decrease of H3K27me3 was especially pronounced at super-enhancers of specific gene clusters, including the NOTCH pathway genes. (nature.com)

There is continuing interest in identifying low penetrance genes that are associated with increased susceptibility to common types of cancer. (bmj.com)

This allows DNA methylation cancer biomarkers to be suitable for early detection and also to have utility across a range of areas relevant to cancer detection and treatment. (frontiersin.org)
This review will summarize existing DNA methylation cancer biomarkers used in clinical practice across the application domains above, discuss what makes a suitable DNA methylation cancer biomarker, and identify barriers to translation. (frontiersin.org)

A proportion of BRAF mutant lesions will methylate a DNA mismatch repair gene, MLH1 , which leads to the onset of microsatellite instability (MSI) [ 3 ]. (hindawi.com)

Transcription factors containing a basic helix-loop-helix (bHLH) motif regulate expression of tissue-specific genes in a number of mammalian and insect systems. (wikipedia.org)
The average mRNA level of Dnmt1 gene from cancerous tissue was higher and that of mbd2 gene from cancerous tissue was lower than that from non-cancerous tissue, respectively. (wjgnet.com)
Moreover, recent evidence demonstrated that cell-free DNA (cfDNA) methylation can be used for early cancer diagnosis and tissue-of-origin mapping for metastatic cancer [ 4 ]. (biomedcentral.com)

Yet another group of genes associated with cancer formation regulates programmed cell death, or apoptosis. (the-scientist.com)

Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
There are few studies focusing on the molecular analysis of p16 gene in ovarian cancer ( 13 - 16 ). (iiarjournals.org)

Its expression is seen in the neural tube much later than other ID genes. (wikipedia.org)
These insights, in turn, have prompted novel, testable hypotheses, to be discussed, pertaining to fundamental aspects of cancer biology including the potential stem cell/progenitor cell origins of cancer and the plasticity of gene expression that may underlie tumor heterogeneity and tumor progression. (esmed.org)
Data mining for 5′-end CpG island methylation of TUSC3, ATRNL1, POMT1 and SAMD4A in cancer cell lines and primary tumors showed that the epigenetic defect was commonly observed among different tumor types in association with the diminished expression of the corresponding transcript. (oncotarget.com)
EDN3 expression and methylation data were statistically correlated with clinical patient characteristics and patient outcome. (biomedcentral.com)
Following early studies of abnormal gene expression in cancer, epigenetic modifications have been recognised to be of central importance in cancer pathophysiology. (touchoncology.com)
Central to the epigenetic control of gene expression is the histone code through which input signals can be translated into a heritable pattern of gene expression defining cellular output states ( Fig. 1 ). (aacrjournals.org)
Histone hyperacetylation and H3K4 methylation are associated with unmethylated DNA, euchromatin, and gene expression ( Fig. 2 ). (aacrjournals.org)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Furthermore, out of 46 double hit cases (i.e., having both methylation and LOH), 70% (32/46) cases showed complete loss of PTEN expression (P= 0.0249). (cancerindex.org)
Both LOH and PTEN promoter methylation were associated significantly with age and clinical stage, while, methylation and loss of PTEN expression were associated with high grade and Her-2 negativity. (cancerindex.org)
But the idea of stably changing gene expression in vivo has transformative potential in cancer therapy and beyond. (aacrjournals.org)
Cells have built in machinery to turn off and on gene expression permanently. (aacrjournals.org)
Selumetinib causes long-term G1 arrest accompanied by reduced expression of DNA replication and repair genes, but cells stochastically re-enter the cell cycle during treatment despite continued repression of pERK1/2. (babraham.ac.uk)
Gene expression profiling in pulmonary hypertension. (famri.org)
Gene expression was analyzed using RT-PCR and gene expression microarrays. (biomedcentral.com)
The combination of UHRF1 depletion and HDAC inhibition also induced marked changes in the gene expression profiles such that cell cycle-related genes were strikingly downregulated. (biomedcentral.com)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)

Independent prognostic impact of DNA methylation class and chromosome 1p loss in WHO grade 2 and 3 meningioma undergoing adjuvant high-dose radiotherapy: comprehensive molecular analysis of EORTC 22042-26042. (amedeo.com)

The mutated genes responsible for this proliferation are called cancer genes, or oncogenes, but this is a misnomer. (the-scientist.com)
Meanwhile, more-appropriately named tumor suppressor genes recognize the illegitimate activation of proliferation-driving genes and hit the brakes. (the-scientist.com)
These genes recognize and stop the illegitimate activation of proliferation-driving genes. (the-scientist.com)

Furthermore, among the environmental risks there are exposure to cigarette smoke and inhalation of wood and metal dust, which might severely affect "genetically susceptible" patients [ 14 ] with the resulting alteration in the regulation of key genes contributing to the pathogenesis of IPF. (encyclopedia.pub)

Two nucleoside inhibitors of DNA methylation, azacitidine and decitabine, are now standard of care for the treatment of the myelodysplastic syndrome, a deadly form of leukemia. (aacrjournals.org)

The in vitro antineoplastic action of DAC correlated well with its inhibition of DNA methylation and reactivation of TSG in human neoplastic cells. (biomedcentral.com)

The best characterized chemical modification of DNA is the methylation of cytosine to 5-methylcytosine (5mC) that occurs almost exclusively in the context of a cytosine base linked by the DNA phosphate-backbone to guanosine, termed a CpG site. (frontiersin.org)

EDN3 promoter methylation was analysed by methylation-specific PCR in breast cell lines (n = 6) before and after demethylating treatment, normal breast tissues (n = 17) and primary breast carcinomas (n = 128). (biomedcentral.com)

The reactivation of the TSGs ( p57KIP2 in HL-60 leukemic cells and p16CDKN2A in Calu-6 lung carcinoma cells) and the inhibition of global DNA methylation in HL-60 leukemic cells increased with DAC concentration. (biomedcentral.com)

Cancer is defined by extensive genetic changes and associated dysregulation in gene function and activity ( Nakagawa and Fujita, 2018 ). (frontiersin.org)
DNA methylation is considered a "soft" and potentially reversible change to the genome that can define or adapt to tumor biology and is functionally equivalent to genetic changes like mutation or deletion ( Kulis and Esteller, 2010 ). (frontiersin.org)
Among them, the most studied and validated genetic risk factor is represented by the single nucleotide polymorphism in the promoter region of the mucin 5B (MUC5B) responsible for sporadic and familial IPF [ 12 ] . (encyclopedia.pub)

Dominant-negative (antimorph) HLH proteins encoded by Id-related genes, such as ID4, also contain the HLH-dimerization domain but lack the DNA-binding basic domain. (wikipedia.org)
The epigenome is an inheritable record of changes to the DNA and histone proteins, such as methylation and nucleosome remodelling that directs which genes are to be silenced or expressed. (touchoncology.com)
The effects of DNA methylation and the histone code are due, at least in part, to modification-specific recruitment of factors, such as heterochromatin-associated proteins (HP1) and methyl-binding domain proteins, which establish and maintain higher order of chromatin structure. (aacrjournals.org)
The normal function of the proteins expressed by these genes is to recognize superfluous, damaged, aged, or aberrant cells that must be eliminated. (the-scientist.com)

Anatomy14

Organisms3

Diseases33

Chemicals and Drugs98

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Phenomena and Processes88

Disciplines and Occupations2

Information Science3

Health Care3

INK4A12

Hypermethylation15

Alterations14

Transcriptional3

Mutations15

Inhibitor5

Assays6

CDKN2A4

Patients without methylation1

Carcinogenesis5

Abstract2

Epigenetics3

Contribute to the pathogenesis2

Phosphorylation3

Tumour2

Cancers7

Cell proliferation4

Genome-wide DNA3

Colorectal cancer2

Pancreatic cancer1

Oncogene4

Protein7

MGMT1

Inactivation1

RASSF1A2

Mechanisms6

Differentiation3

Pathway6

Susceptibility1

Cancer biomarkers2

Instability1

Tissue3

Regulates1

Ovarian cancer2

Expression17

Chromosome1

Proliferation3

Regulation1

Inhibitors1

Neoplastic1

Cytosine1

Tissues1

Inhibition1

Genetic3

Proteins4