Cells promoter regions genetic. Medical search. Frequent questions

Effects of sulforaphane and 3,3'-diindolylmethane on genome-wide promoter methylation in normal prostate epithelial cells and prostate cancer cells. (oregonstate.edu)
DNA methylation profile was preserved in PDX mice in 97.5% of the promoters (ρ = 0.99). (uzh.ch)
Distinct promoter methylation profile reveals spatial epigenetic heterogeneity in 2 myeloma patients with multifocal extramedullary relapses. (cancerindex.org)
These genes are regulated by specific regions near the genes called imprinting control regions (ICRs), which contain epigenetic marks (methylation) that coordinate gene expression. (medscape.com)
Causes can include changes to levels of methylation at the ICRs, paternal uniparental disomy (pUPD) of chromosome 11p15, chromosomal rearrangements involving the 11p15.5 region, point mutations in CDKN1C , or microdeletions in ICRs. (medscape.com)
The scientists assessed chromatin states across 9 different cell types by mapping the locations across the genome of several epigenetic modifications to DNA, such as methylation and acetylation. (nih.gov)
Results suggesting that the promoter region of human klotho gene could be epigenetically controlled by DNA methylation have been reported. (tubitak.gov.tr)
In this study, we investigated the expression, promoter methylation and allelic imbalance status of this gene in 52 paired (normal/tumour) surgically excised lung tissue samples from patients with NSCLC. (edgehill.ac.uk)
The CYGB promoter was shown by pyrosequencing to be significantly hypermethylated [2-fold increase of methylation index (MtI) in tumours] in 25/52 (48%) tumour samples compared with normal samples. (edgehill.ac.uk)
I would also like to have a module database, like an App Store, where researchers can 'shop' for Casilio modules - e.g., modules for adding acetylation, removing methylation, inducing double-strand breaks, etc., just plug-and-play, mix and match the different modules to do something fun in the cell. (jax.org)
Because DNA methylation is known to influence the activity of promoter sequences, we searched for genetic and epigenetic evidence of in vivo promoter activity embedded within SHANK3 in mouse and human tissues. (escholarship.org)
These correlative data suggest that the intragenic methylation negatively influences promoter activity. (escholarship.org)
Through a series of in vitro and in vivo DNA methylation experiments, we directly demonstrated that methylation of the intragenic promoters precluded expression. (escholarship.org)
Additionally, we found that 68.2% of intragenic sequences exhibiting tissue-specific DNA methylation identified from a genome-wide screen harbored features of promoters more commonly associated with the 5'-end of genes. (escholarship.org)
Altogether, these results support a role for intragenic DNA methylation in regulating the activity of alternate, intragenic promoters that may be generally applicable. (escholarship.org)
hOGG1 promoter methylation, hOGG1 genetic variants and their interactions for risk of coal-borne arsenicosis: A case-control study. (cdc.gov)
IDH1/2 mutations are the histological classification and avoids the TeT2 pRomoteR methylation in low- most significant predictor of favourable ambiguity inherent to the diagnosis of gRade diffuse gliomas lacking idh1/2 outcome of glioblastoma patients. (who.int)

This study demonstrates the utility of the human beta-PDE promoter for directing the expression of foreign genes to photoreceptors and suggests that the -297 to +53 beta-PDE 5' flanking region fragment may have important implications for therapeutic gene delivery to the visual cells. (nih.gov)
Genetic engineering, also called genetic modification or genetic manipulation, is the modification and manipulation of an organism's genes using technology. (wikipedia.org)
It is a set of technologies used to change the genetic makeup of cells, including the transfer of genes within and across species boundaries to produce improved or novel organisms. (wikipedia.org)
Independent experiments confirmed several target genes, including PLOD2 , HADH , LCOR and REEP1 as non-canonical target genes in various colon cancer cells. (nature.com)
The phytochemical 3,3'-diindolylmethane decreases expression of AR-controlled DNA damage repair genes through repressive chromatin modifications and is associated with DNA damage in prostate cancer cells. (oregonstate.edu)
HBS1L-MYB genes are expressed in the precursor cells of the erythroid. (scirp.org)
BWS is caused by genetic or epigenetic changes that disrupt the parent-of-origin specific expression of these genes. (medscape.com)
The imprinted gene regions involved in BWS are H19/IGF2 and CDKN1C/KCNQ1OT1 , all genes implicated in growth during early development. (medscape.com)
Genetic variations that lie outside of any known genes can lead to disease. (nih.gov)
To gain insights into these non-coding regions, a team of scientists partly supported by NIH's National Human Genome Research Institute (NHGRI) carried out a genome-wide survey of epigenetic marks - factors that change the way genes are read, or expressed, without changing the DNA sequence itself. (nih.gov)
Three chromatin states were associated with regulatory regions known as promoters, which sit close to genes and allow them to be read. (nih.gov)
Four chromatin states were associated with regions known as enhancers, which act at a distance and are not always easy to tie to particular genes. (nih.gov)
For example, active promoter states in skeletal muscle were associated with extracellular structure genes, while active promoter states in lymphoblastoid cells were associated with immune response genes. (nih.gov)
Promoters active in both cells types were associated with general metabolism genes. (nih.gov)
To connect enhancer regions to likely target genes, the researchers compared patterns of chromatin activity with gene expression across the 9 cell types. (nih.gov)
We studied 28 genes that are expressed primarily in endothelial cells, another 28 genes that are expressed highly, but not exclusively, in cultured endothelial cells, and three control sets, consisting of genes not expressed in endothelium, genes expressed in neural tissues and housekeeping genes. (duke.edu)
As a functional test, we assayed the CNSs from the set of endothelial cell-specific genes (EC-CNSs) for DNase hypersensitivity. (duke.edu)
First, there is the transcription of genes to mRNA which is largely regulated by the promoter sequence. (tum.de)
Genomic organization of the tag7gene and its promoter region remind those of the genes of the tumornecrosis factor locus, although the tag7 gene is not linked to this locus.The gene is located on chromosome 7 at the area that corresponds to band7A3, which has genetic linkage with lupus-like disease in mouse models.tag7 transcription is essential for lymphoid organs. (embl-heidelberg.de)
Inhibitory AhR-ER crosstalk was investigated in Ishikawa cells using E2-induced cell proliferation and transcriptional activation assays in cells transfected with E2-responsive constructs containing promoter inserts from the progesterone receptor and vitellogenin A2 genes. (tamu.edu)
The concept of genes as carriers of phenotypic information was introduced in the early 19th century by Gregor Mendel, who later demonstrated the properties of genetic inheritance in peas. (addgene.org)
Grandori, Carla and Gomez-Roman, Natividad and Felton-Edkins, Zoe A and Ngouenet, Celine and Galloway, Denise A and Eisenman, Robert N and White, Robert J (2005) c-Myc binds to human ribosomal DNA and stimulates transcription of rRNA genes by RNA polymerase I. Nature cell biology, 7 (3). (fhcrc.org)
c-Myc coordinates cell growth and division through a transcriptional programme that involves both RNA polymerase (Pol) II- and Pol III-transcribed genes. (fhcrc.org)
Previous studies have implicated allelic loss at chromosome 17q in the development of non-small cell lung carcinoma (NSCLC), and a number of known and putative tumour-suppressor genes reside within this region. (edgehill.ac.uk)
But most cell functions are more complex than that-being regulated by multiple genes. (jax.org)
Working with JAX Distinguished Visiting Professor Haoyi Wang, Ph.D., and other colleagues, Cheng was looking for a way to regulate multiple genes in the mouse and other cell and animal models. (jax.org)
These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
Polymorphisms in DNA repair genes in lung cancer patients living in a coal-mining region. (cdc.gov)
Acquisitions of OspC genes that are novel for the region confer to recipients unique identities to host immune systems and, presumably, selective advantage when immunity to existing types is widespread among hosts. (cdc.gov)
Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
SCD is the most prevalent genetic disease in the African Region.1 There are different subtypes of SCD in which the abnormal S gene (S) coexists with other abnormal haemoglobin genes. (who.int)

Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)
Single nucleotide polymorphisms (SNPs) in the Gγ-globin gene promoter in BCL11A regions and HBS1L-MYB intergenic polymorphism (HMIP) are thought to be associated with Hb F levels. (scirp.org)
Context-specific functional effects of IFNGR1 promoter polymorphism. (ox.ac.uk)
We report evidence of a polymorphism in the promoter region of IFNGR1 (encoding interferon-gamma receptor 1) that has opposite functional effects in different cellular contexts. (ox.ac.uk)
We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)

2016. Sulforaphane modulates telomerase activity via epigenetic regulation in prostate cancer cell lines. . (oregonstate.edu)
In this study, we describe the TERT hypermethylated oncological region (THOR), a 433-bp genomic region encompassing 52 CpG sites located immediately upstream of the TERT core promoter, as a cancer-associated epigenetic mechanism of TERT upregulation. (jci.org)
BWS can be caused by several different epigenetic or genetic changes at these loci. (medscape.com)
MtI of the CYGB promoter was associated with CYGB mRNA expression (linear regression analysis, P=0.009), suggesting a primary role for the epigenetic events in CYGB silencing. (edgehill.ac.uk)

Genetic engineering could potentially fix severe genetic disorders in humans by replacing the defective gene with a functioning one. (wikipedia.org)
Studies show that certain PAH metabolites interact with DNA and are genotoxic, causing malignancies and heritable genetic damage in humans. (cdc.gov)

Although TERT promoter mutations (TPMs) are a major cancer-associated genetic mechanism of TERT upregulation, many cancers exhibit TERT upregulation without TPMs. (jci.org)
Burn-McKeown syndrome is caused by mutations in the TXNL4A gene or in an area of genetic material near the TXNL4A gene called the promoter region, which controls the production of protein from the gene. (medlineplus.gov)
which means both copies of the gene in each cell have mutations. (medlineplus.gov)
Using the baker's yeast Saccharomyces cerevisiae, Patricia Wittkopp and her colleagues developed a novel way to disentangle the effects of random genetic mutations and natural selection on the evolution of gene expression. (sciencedaily.com)
To understand how different genetic mutations impact TDH3 expression, they systematically changed each of the DNA base pairs in a region of the gene known as the promoter, which controls the amount of the gene that is expressed. (sciencedaily.com)
They created all of the different possible genetic mutations in this region and measured the change in gene expression caused by each mutation. (sciencedaily.com)
Surprisingly, we found that most mutations didn't change the average expression of TDH3 but instead changed how variable TDH3 expression was among genetically identical cells," Wittkopp said. (sciencedaily.com)
BWS can also be caused by mutations in the genetic sequence, deletions, duplications in the region or chromosomal rearrangements. (medscape.com)
The majority of osteosarcomas harbour mutations in the TP53 gene, either point mutations or structural variations that separate the promoter region from the coding parts of TP53. (lu.se)
Cancer is thought to result from the gradual accumulation of genetic mutations in a cell. (who.int)
Environmental and lifestyle exposures to mutagenic agents and endogenous processes may cause mutations in normal cells. (who.int)
Collections of these cells (clones) harbouring driver mutations can exist in different tissues without ever transforming into cancer. (who.int)
mutations high frequency of IDH1/2 mutations in oligodendrogliomas, astrocytomas and in alteRations in the RB1 pathway in The TET2 gene encodes the -KG- secondary glioblastomas derived thereof low-gRade diffuse gliomas lacking dependent enzyme that catalyses suggests that these tumours share a common genetic alteRations the conversion of 5-methylcytosine to common progenitor cell population. (who.int)

However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress-related diseases such as vitiligo is unknown. (nih.gov)
Genetic polymorphisms lead to individual differences. (frontiersin.org)
Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with β -thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. (scirp.org)
In sickle cell disease patients, Genetic polymorphisms in HBS1L-MYB (rs9376090 & rs4895441) affect the level of Hb F which could improve the prognosis of these patients. (scirp.org)
Future studies in firefighters have been proposed to evaluate the interaction between exposure to products of combustion and genetic polymorphisms in relation to decline in lung function. (cdc.gov)

Scholars@Duke publication: Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. (duke.edu)

A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. (lookformedical.com)
A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. (lookformedical.com)
It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. (lookformedical.com)
A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (lookformedical.com)
In epithelial cells, the same allele acts to decrease gene expression and suppresses the binding of approximately 90 kDa STAT-1 and STAT-2 proteins. (ox.ac.uk)

ATG can exert various effects on the immune system, including T-cell depletion in the blood and peripheral tissues, down-modulation of adhesion molecules and chemokine receptors, 7 and possibly a direct effect on hematopoietic stem cells. (haematologica.org)
Studies have found that E2F1 is highly expressed in a variety of tumor tissues and cells and plays a role of oncogenic gene [ 10 - 13 ]. (hindawi.com)
The sequencing of more cases will provide power to explore if different risk profiles based on the exposure to suspected promoters could have an impact on the clonal structure of normal renal tissues. (who.int)

they include thalassemia syndromes, sickle cell disease & globin chain variants [1]. (scirp.org)
Genetic variants with gene regulatory effects are associated with diisocyanate -induced asthma. (cdc.gov)
Objective: The aim of this study was to identify DA-associated functional genetic variants through next-generation sequencing (NGS), bioinformatics, and functional assays. (cdc.gov)
Results: NGS detected 130 risk variants associated with DA (3.1 × 10-6 to 6.21 × 10-4), 129 of which were located in noncoding regions. (cdc.gov)
Electrophoretic mobility shift assays detected allele-dependent nuclear protein binding in A549 cells for 8 of 21 variants. (cdc.gov)
These results demonstrate that many DA-associated genetic variants likely act by modulating gene regulation. (cdc.gov)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)

Across 10 association studies of various diseases and traits, we found that the associated SNPs significantly overlapped our predicted control region annotations in specific cell types," Kellis says. (nih.gov)

A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane. (lookformedical.com)
A cell line derived from cultured tumor cells. (lookformedical.com)

In this study the cell specificity and expression pattern conferred by the short beta-PDE 5' flanking sequence in vivo were examined. (nih.gov)
We found that versions of the sequence controlling TDH3 expression that increased variance in gene expression were rarely found in the wild, indicating that natural selection prefers TDH3 expression to be consistent, resulting in similar amounts of gene product in every cell," Metzger said. (sciencedaily.com)
To understand the molecular basis of observed regional shifts in the genome types of adenovirus type 7 (Ad7) isolated in Korea during nationwide outbreaks from 1995 to 2000, the genetic variabilities of Ad7d and Ad7l were studied by sequence analysis of hexon, fiber, E3, and E4 open reading frame (ORF) 6/7 peptides. (cdc.gov)
Previously, sequence variations among the different genome types of Ad7 strains have been observed at 2 variable regions of the hexon gene and in a 14.9-kDa protein encoded by an ORF in the E3 region ( 6 , 14 ). (cdc.gov)
Using gene-silencing experiments and specific pharmacological inhibitors, we have ascertained that EGF and TGFÎ± induce GPR30 expression through the EGFR/ERK transduction pathway, and the recruitment of c-fos to the activator protein-1 site located within GPR30 promoter sequence. (unical.it)
The widely used CRISPR-Cas9 gene-editing technology has enabled researchers to alter genome sequence or gene expression with great precision, says JAX Assistant Professor Albert Cheng, Ph.D., first and co-corresponding author of a paper published in Cell Research . (jax.org)
Many diseases involve variations in gene expression rather than genetic sequence. (jax.org)

The first company to focus on genetic engineering, Genentech, was founded in 1976 and started the production of human proteins. (wikipedia.org)
Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. (medlineplus.gov)
Treatment of Ishikawa cells with the AhR agonist [3H]2,3,7, 8-tetrachlorodibenzo-p-dioxin (TCDD) gave a radiolabeled nuclear complex that sedimented at 6.0 S in sucrose density gradients, and Western blot analysis confirmed that Ishikawa cells expressed human AhR and AhR nuclear translocator (Arnt) proteins. (tamu.edu)
dCas9 can be fused to protein tags or the effector domains of transcription factors (proteins that bind DNA in promoter regions and simultaneously bind other regulatory proteins via effector domains, which can activate or repress transcription and thereby affect gene expression) to develop customized DNA binding proteins. (jax.org)
It can also be fused to fluorescent proteins to label specific chromosomal regions in live cells for study. (jax.org)
We find that the IFNGR1-470del allele acts to suppress binding of nuclear proteins to the IFNGR1 promoter region in a manner that is specific for cell type. (ox.ac.uk)

We previously demonstrated that 350 bp of the human rod cGMP phosphodiesterase beta-subunit (beta-PDE) gene promoter are sufficient to direct high levels of gene expression in human Y-79 retinoblastoma cells in vitro. (nih.gov)
This consistency of gene expression, known as expression noise, affects evolutionary fitness by altering the chance that a given cell has the most advantageous amount of a gene product. (sciencedaily.com)
In contrast, a study revealing whether a change in the expression level of DNMT enzymes in the cells affects klotho gene expression has not been found. (tubitak.gov.tr)

Interestingly, both the ATAC regions, which showed a significant decrease in accessibility in PDXs and the regions hypermethylated in PDXs, were associated with immune response, which might reflect the immune deficiency of the mice and potentially the incomplete interaction between murine cytokines and human receptors. (uzh.ch)

Spliceosomes recognize and then remove regions called introns from immature mRNA molecules to help produce mature mRNA. (medlineplus.gov)
We demonstrate that epidermal growth factor (EGF) and TGFÎ± transactivate the GPR30 promoter and accordingly up-regulate GPR30 mRNA and protein levels only in endometrial and tamoxifen-resistant breast cancer cells. (unical.it)

Transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C/T allele was determined in vitro . (frontiersin.org)
We demonstrated that transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C allele was higher than that of 5-HT 1A receptor promoter containing T allele. (frontiersin.org)
The transcriptional activity of 5-HT 1A receptor promoter was stimulated by 30 mW/cm 2 microwave exposure, and rs198585630 C allele was more sensitive to microwave exposure, as it showed stronger transcriptional activation. (frontiersin.org)

These findings indicate that the C allele of rs35652124 located in the promoter region of Nrf2 gene is associated with protective effect on vitiligo in a Han Chinese population. (nih.gov)

Scaffold/matrix attachment regions (S/MARs) are DNA elements that serve to compartmentalize the chromatin into structural and functional domains. (researchgate.net)
Chromatin (red) in human cells. (nih.gov)
Other chromatin states correspond to insulators, which also help regulate active and repressed regions. (nih.gov)
The results of this research showed that DNMT enzymes have negative regulatory effects on klotho gene promoter organized as a chromatin structure, and they have an enhancing effect on promoter activity when it is located on plasmid DNA. (tubitak.gov.tr)
The fragment contains the transcribed region plus 11.5 kb 5'-flanking and 5.5 kb 3'-flanking sequences including all known cis-regulatory elements and the 5' and 3' attachment elements (A-elements) which define the borders of the DNase I sensitive chromatin domain. (eur.nl)

The scientists found that regulatory regions vary greatly in activity depending on the cell type. (nih.gov)
6 In addition, rATG may selectively promote the expansion of regulatory T cells, 11 possibly inducing in vivo immune tolerance through this mechanism. (haematologica.org)
TGF-β unfolds its immunosuppressive impact by stimulating tumor-infiltrating T-lymphocytes (TIL) to differentiate into anergic, tumor-promoting, regulatory T cells (Treg). (haematologica.org)
The novel research helps in tracking the cascade of genetic activity as well as to identify regulatory sequences that control disease and find new targets for the drug. (kuickresearch.com)

Furthermore, we show that the ligands Wnt5a/b are upstream regulators of the non-canonical signature and moreover regulate proliferation of cancer cells in a β-catenin-independent manner. (nature.com)
Our experiments indicate that colon cancer cells are dependent on both β-catenin-dependent and -independent Wnt signaling routes for growth and proliferation. (nature.com)
Disruption of the TP53 pathway is a well-known prerequisite for continued proliferation of cells with massively damaged DNA. (lu.se)

Zinc deficiency enhanced inflammatory response by increasing immune cell activation and inducing IL6 promoter demethylation. (oregonstate.edu)
Using a combination of rational design and high-throughput screening we optimize the switching circuits of engineered cells and connect their activity to the release of immune checkpoint inhibitors. (nature.com)
Among the cell types being investigated for therapy, immune cells have excelled in the treatment of hematologic malignancies. (nature.com)
However, ionizing radiation carries the risk of damage to host immune cells and engineered microbial cells 31 . (nature.com)
In a differential display screen for up-regulated immune genesin the moth Trichoplusia ni we have found mechanisms for recognition ofbacterial cell wall fragments. (embl-heidelberg.de)

The new technique can be used to treat cancer while backtracking the genetic pathways to identify controllers of the disease. (kuickresearch.com)
Mucin 1 lies on the tubular cell apical surface and has a role in signal transduction pathways. (medscape.com)

A construct containing the bacterial LacZ gene driven by a fragment of the beta-PDE 5' flanking region (-297 to +53) was used to generate transgenic mice. (nih.gov)

Like the bacterial chromosomal DNA, plasmid DNA is replicated upon cell division, and each daughter cell receives at least one copy of the plasmid. (addgene.org)
This advantage enables more efficient gene modulation and labeling of chromosomal loci in live cells. (jax.org)

E2F1 is one of the transcription factors that cells enter the S phase and plays a key role in cell cycle. (hindawi.com)

Thesoluble form of Tag7 triggers apoptosis in mouse L929 cells in vitro anddoes not involve NF-kappaB activation. (embl-heidelberg.de)
Using this integrated and cross-species approach, we identified two intragenic regions with promoter activity in vitro, are differentially methylated in vivo, and facilitate the tissue-specific transcription of novel and potentially protein-coding SHANK3 transcripts. (escholarship.org)

Genetic variation in the ATP binding cassette transporter ABCC10 is associated with neutropenia for docetaxel in Japanese lung cancer patients cohort. (nih.gov)

Unmethylated THOR repressed TERT promoter activity regardless of TPM status, and hypermethylation of THOR counteracted this repressive function. (jci.org)
This signaling cascade was shown to be recurrently inactivated in DLBCL, mainly by hypermethylation of five promoter regions surrounding the SMAD1 transcription start site, which finally generates a significant growth advantage for lymphoma cells. (haematologica.org)

3 Interestingly and still poorly understood, the HRS cells themselves seem to remain unaffected by the tumor-suppressive properties of TGF-β. (haematologica.org)

Contrary to expectations, a fragment containing the entire region between the TBPH gene and the bgcn translational start drove strong HEG expression only during late spermatogenesis rather than in the germline stem cells and spermatogonia as expected. (plos.org)

deletion) located approximately 400Kb upstream to IGFBP5, which overlaps an intergenic ERα-bound enhancer that loops to the IGFBP5 promoter. (duke.edu)
1000 nucleotides, located within the upstream intergenic region (from 500 to as far as 200 000 nucleotides upstream from the transcription start) or within the first intron. (duke.edu)

Hb F is a predominant modulator for the severity of β -thalassemia major & sickle cell disease. (scirp.org)
Sickle cell disease ( SCD ) is considered as one of the commonest gene disorders of human beings. (scirp.org)
Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
Sickle-cell disease (SCD) is an inherited disorder of haemoglobin. (who.int)
Sickle-cell disease (SCD) is a genetic condition in which the red blood cells contain haemoglobin S (HbS), an abnormal form of the oxygen-carrying protein. (who.int)
Sickle-cell disease prevalence depends on sickle-cell trait. (who.int)

This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. (nih.gov)
This study was undertaken to determine genetic differences and to understand the molecular basis of regional shifts observed in the genome types of Ad7 isolated in Korea. (cdc.gov)
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. (lookformedical.com)
The relationships between the Arterial and venous thrombosis, which clinical presentation and FVII levels and the clinically manifest as stroke, myocardial in- associated molecular genetic defects lack farction or pulmonary embolism are a ma- apparent consistency [ 7,10 ]. (who.int)
Modern genetic techniques have helped us hugely in characterizing these disorders and providing a molecular diagnosis in the face of nonspecific clinical data. (medscape.com)

The presence of c-Myc at specific sites on rDNA coincides with the recruitment of SL1 to the rDNA promoter and with increased histone acetylation. (fhcrc.org)

The TXNL4A gene provides instructions for making one part (subunit) of a protein complex called the major spliceosome, which is the larger of two types of spliceosomes found in human cells. (medlineplus.gov)
Herein, the effects of DNMT3A and DNMT3B enzymes on the expression of klotho gene, an important genetic factor relating to the aging process and some human cancer types, were investigated. (tubitak.gov.tr)
E2F site in the essential promoter region does not confer S phase-specific transcription of the ABCC10 gene in human prostate cancer cells. (nih.gov)
The table below shows the correlation of maternal age (mother's age) and the potential risk of human genetic abnormalities in children. (edu.au)
Estrogen and aryl hydrocarbon receptor expression and crosstalk in human Ishikawa endometrial cancer cells. (tamu.edu)
Treatment of Ishikawa cells with 10 nM TCDD induced a 9.7-fold increase in CYP1A1-dependent ethoxyresorufin O-deethylase (EROD) activity and a 10.5-fold increase in chloramphenicol acetyltransferase (CAT) activity in cells transfected with pRNH11c containing an Ah-responsive human CYP1A1 gene promoter insert (-1142 to +2434). (tamu.edu)
A group of researchers have developed a novel method to study the effect of multiple gene at a single time by profiling a cell, including human cells, and rapidly determine all the DNA sequences in the genome that regulate the expression of a specific gene. (kuickresearch.com)
Dr Heidi Mattock and use genetic data to identify the etiology of human canceRs. (who.int)

For this purpose, the expression levels of DNMT3A and DNMT3B in HEK293 cells were artificially changed, and the effect on klotho gene promoter activity was investigated using a reporter gene. (tubitak.gov.tr)
Mutational analysis indicates these sites are required for AP-1 responsiveness and full promoter activity. (bath.ac.uk)
In contrast, neither estrogen nor progesterone inhibited EROD activity induced by TCDD in Ishikawa cells, whereas inhibitory ER-AhR crosstalk was observed in ECC-1 endometrial cells suggesting that these interactions were cell context-dependent. (tamu.edu)

Here, we aimed at identifying a β-catenin-independent Wnt target gene signature in order to understand the functional significance of non-canonical signaling in colon cancer cells. (nature.com)

This led us to hypothesize that the absence of SMAD1 expression in HRS cells may mechanistically be linked to their resistance to the tumor-suppressive effects of TGF-β. (haematologica.org)
Ishikawa endometrial cancer cells express the estrogen receptor (ER), and this study investigates aryl hydrocarbon receptor (AhR) expression and inhibitory AhR-ER crosstalk in this cell line. (tamu.edu)
In the present study, we evaluated the regulation of G protein-coupled receptor (GPR)30 expression in estrogen receptor (ER)-positive endometrial, ovarian, and estrogen-sensitive, as well as tamoxifen-resistant breast cancer cells. (unical.it)
We also searched for spermatogonium-specific promoters and found that the Rcd-1r promoter was able to drive specific expression at this stage. (plos.org)
Further, addition of reporter gene which codes for green fluorescent protein to the promoter region which will initiate the expression of gene. (kuickresearch.com)

IGF2 is highly active during fetal development and acts as a growth promoter. (medscape.com)

CDKN1C , or cyclin-dependent kinase inhibitor 1C, is a gene that encodes a protein implicated in cell cycle regulation. (medscape.com)

2 Additionally, TGF-β inhibits natural killer cells - one of the key components of the innate anticancer immunity. (haematologica.org)
Additionally, geographical trends could emerge to link clonal architecture to higher-risk regions and possible region-specific exposures. (who.int)

The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. (nih.gov)

Three independently derived transgenic lines were generated carrying the -297 to +53 beta-PDE 5' flanking region fragment. (nih.gov)

DNA constructs were cloned into a pGL3 promoter vector for luciferase gene reporter assays. (cdc.gov)

As well as producing hormones, vaccines and other drugs, genetic engineering has the potential to cure genetic diseases through gene therapy. (wikipedia.org)
Countless such studies across diverse diseases and conditions have implicated specific regions in the genome. (nih.gov)
The four SNP are located in different regions of the VDR gene and are potentially linked to many diseases [ 11 , 12 ]. (hindawi.com)
Genetic factors levels vary significantly in the general pop- contribute significantly to the development ulation and are influenced by environmental of these diseases. (who.int)

The VDR gene is located on chromosome 12q12-14, which contains two promoters and 8 exons [ 11 ]. (hindawi.com)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

Deciphering the language in which genomes are written, that is knowing the words and grammar and instructions made of A, C, G, and Ts encoding how cells should react to environmental changes, is a long-standing goal of biology. (tum.de)
This offers one of the most challenging paradoxes in cancer biology: what is required of a cell to not only survive massive genetic damage but also outcompete neighboring cells and present as a malignant tumor? (lu.se)

Lung cancer family history and exposure to occupational/domestic coal combustion contribute to variations in clinicopathologic features and gene fusion patterns in non-small cell lung cancer. (cdc.gov)

Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side-by-side comparison in karyotypically normal cells. (lu.se)
Distinct EGFR Mutation Pattern in Patients With Non-Small Cell Lung Cancer in Xuanwei Region of China: A Systematic Review and Meta-Analysis. (cdc.gov)
Three overlapping but distinct populations of B. burgdorferi corresponded to the geographic regions. (cdc.gov)

This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)
The frameshift mutation results in the formation of a truncated protein which cannot fold properly, promoting aggregation, and subsequent deposition in tubular cells. (medscape.com)

Among 262 distant EC-CNSs, 33% are hypersensitive (HS) in endothelial cells, whereas only 16% are HS in control fibroblasts. (duke.edu)
90% non-neoplastic cells, mainly T- and B-lymphocytes, plasma cells, macrophages, eosinophils and fibroblasts. (haematologica.org)
1 One component of this network is transforming growth factor beta (TGF-β), which is produced by HRS cells and cancer-associated fibroblasts. (haematologica.org)

Unlike traditional animal and plant breeding, which involves doing multiple crosses and then selecting for the organism with the desired phenotype, genetic engineering takes the gene directly from one organism and delivers it to the other. (wikipedia.org)
2017. Rapamycin inhibits the secretory phenotype of senescent cells by a Nrf2-independent mechanism. . (oregonstate.edu)

Risk and nonrisk oligonucleotides were tested for binding of nuclear extracts from A549, BEAS-2B, and IMR-90 lung cell lines by using electrophoretic mobility shift assays. (cdc.gov)

Anatomy14

Organisms11

Diseases3

Chemicals and Drugs107

Analytical, Diagnostic and Therapeutic Techniques and Equipment27

Phenomena and Processes99

Disciplines and Occupations1

Information Science3

Health Care1

Methylation17

Genes31

Polymorphism5

Epigenetic4

Humans2

Mutations13

Polymorphisms5

Conserved sequences1

Epithelial cells5

Tissues3

Variants7

SNPs1

Tumor cells2

Sequence7

Proteins6

Gene expression3

Receptors1

MRNA2

Transcriptional3

Allele1

Chromatin5

Regulatory4

Proliferation3

Immune5

Pathways2

Mice1

Chromosomal2

Transcription factors1

Vitro2

Variation1

Hypermethylation2

Interestingly1

Stem Cells1

Intergenic2

Sickle cell di6

Molecular5

Histone1

Human8

Activity3

Functional1

Expression5

IGF21

Encodes a protein1

Additionally2

Differentiation1

Transgenic1

Constructs1

Diseases4

Chromosome2

Biology2

Exposure1

Distinct3

Mutation2

Fibroblasts3

Phenotype2

Assays1