• Deep sequencing studies show that 4.2% of tumours carry activating mutations in GNAS (encoding Gα s ), and that oncogenic activating mutations in genes encoding Gα q family members ( GNAQ or GNA11 ) are present in ∼ 66% and ∼ 6% of melanomas arising in the eye and skin, respectively. (nature.com)
  • We are excited about this discovery because most cancers are thought to come from mutations in genes, and our studies, for the first time, have shown that too much of this type of protein actually causes normal cells to turn into cancer cells," said Shrikant Anant, Ph.D., a cancer biologist at the OU Cancer Institute and principal investigator on the project. (sciencedaily.com)
  • Dr. Le Roch's findings document a global mechanism mediating significant changes in gene expression as the parasites transition through developmental stages in the human hosts," said Anthony A. James, a distinguished professor of microbiology & molecular genetics and molecular biology & biochemistry at UC Irvine, who was not involved in the research. (sciencedaily.com)
  • Gene and chromosome 7 copy numbers were identified by fluorescent in situ hybridization (FISH). (nih.gov)
  • The prevalent FISH patterns were balanced disomy (40%) and trisomy (38%) for EGFR gene and chromosome 7 (40%), whereas balanced polysomy was seen in 13% and gene amplification was seen in 9% of the patients. (nih.gov)
  • [ 7 , 8 ] The gene for protein C is located on the long arm of chromosome 2 and nearly 200 pathogenic mutations of this gene have been described. (medscape.com)
  • A search of a 35-kilobase region of the human Y chromosome necessary for male sex determination has resulted in the identification of a new gene. (nih.gov)
  • Tumor protein 53 ( TP53 ) is a recognized tumor suppressor gene located on chromosome 17q13.1. (spandidos-publications.com)
  • The IL-4 gene, IL-3, IL-5, IL-13, and CSF2 form a cytokine gene cluster on chromosome 5q. (fishersci.com)
  • Further, the IL-4 gene, IL13 and IL5 are found to be coordinated by several long-range regulatory elements over a 120 kilobase range on the chromosome. (fishersci.com)
  • Both hemophilia A and B are inherited in the same way, because both the genes for factor VIII and factor IX are located on the X chromosome (chromosomes are structures within the body's cells that contain the genes). (cdc.gov)
  • There are no genes for clotting factors on the Y chromosome. (cdc.gov)
  • A female with a hemophilia allele on one X chromosome usually has a normal allele on her other X chromosome that can produce normal clotting factor, so she has some protection against having hemophilia. (cdc.gov)
  • A deletion of genetic material near the end of the short (p) arm of chromosome 17, that includes the PAFAH1B1 gene, causes Miller-Dieker syndrome. (medlineplus.gov)
  • Other genes deleted in the same region of chromosome 17 are likely responsible for the other features of Miller-Dieker syndrome. (medlineplus.gov)
  • The chromosome distribution and analysis for WGD-derived duplicated blocks revealed that the legume bZIP genes have expanded mainly by segmental duplication rather than tandem duplication. (datadryad.org)
  • The underlying genetic abnormality in harlequin ichthyosis is a mutation in the lipid-transporter gene ABCA12 on chromosome 2. (medscape.com)
  • Mutations in ABCA12 , a gene that encodes adenosine triphosphate (ATP)-binding cassette transporter (ABC), subfamily A, member 12, in chromosome region 2q35, underlie this disorder. (medscape.com)
  • 6] The human TFPI gene is found on chromosome 2. (medscape.com)
  • 9] The antithrombin gene is found on the long arm of chromosome 1. (medscape.com)
  • The protein Z gene exists on the long arm of chromosome 13, where it lies in close proximity to the genes for factor X and factor VII. (medscape.com)
  • Thus the inhibitory effects of SLTM on gene expression appear to result from generalized down-regulation of mRNA synthesis and initiation of apoptosis consequent upon overexpressing the protein. (bris.ac.uk)
  • While indicating a crucial role for SLTM in cellular function, these results also emphasize the need for caution when interpreting phenotypic changes associated with manipulation of protein expression levels. (bris.ac.uk)
  • In summary, our results showed that IGFBP-3 methylation played an important role in the silencing of its expression, suggesting that IGFBP-3 may act as a tumor suppressor gene in several human cancers examined. (nih.gov)
  • Epidermal growth factor receptor in non-small-cell lung carcinomas: correlation between gene copy number and protein expression and impact on prognosis. (nih.gov)
  • Protein expression was assessed by immunohistochemistry on a scale from 0 to 400 (percentage of positive cells x staining intensity). (nih.gov)
  • It will be important to evaluate EGFR gene and EGFR protein status and signal protein expression to properly interpret future clinical trials using EGFR inhibitors. (nih.gov)
  • We also showed that OsPIF14 down-regulates OsDREB1B gene expression in rice protoplasts, corroborating the OsPIF14 repressor activity observed in the transactivation assays using Arabidopsis protoplasts. (unl.pt)
  • However, we did not observe any regulation of the OsDREB1B gene expression by light under control conditions. (unl.pt)
  • Moreover, OsPIF14 gene expression was shown to be modulated by different treatments, such as drought, salt, cold and ABA. (unl.pt)
  • Although in the absence of stress, OsDREB1B gene expression was not regulated by light, given previous reports, it remains possible that OsPIF14 has a role in light modulation of stress responses. (unl.pt)
  • Dive into the research topics of 'Rice phytochrome-interacting factor protein OsPIF14 represses OsDREB1B gene expression through an extended N-box and interacts preferentially with the active form of phytochrome B'. Together they form a unique fingerprint. (unl.pt)
  • Upon depletion of RBPJ using CRISPR/Cas9, we observed specific upregulation of Notch target gene expression. (mdpi.com)
  • Trimers of two receptor-regulated SMADs and one co-SMAD act as transcription factors that regulate the expression of certain genes. (wikipedia.org)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • Aberrant expression, overexpression or signal reprogramming of GPCRs and G proteins in tumour cells can contribute to cancer development and progression. (nature.com)
  • These alterations may arise from cancer-specific changes in gene copy number, as well as from other genetic, epigenetic and post-translational changes resulting in higher protein expression, thereby enhancing tumour progression and metastasis. (nature.com)
  • Aberrant expression and activity of G proteins and G-protein-coupled receptors (GPCRs) are frequently associated with tumorigenesis. (nature.com)
  • The aim of the present study was to investigate the association between tumor protein 53 (TP53) gene deletion and protein expression and clinical features in esophageal squamous cell carcinoma (ESCC), and to evaluate the predictive value of these two characteristics in the prognosis of ESCC. (spandidos-publications.com)
  • Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) were performed to detect the expression of p53 protein and gene deletion in ESCC tissue samples from different ethnic groups in Xinjiang, in order to analyze their association with clinicopathological characteristics and patient prognosis, as well as the sensitivity and specificity of the two methods. (spandidos-publications.com)
  • The positive rate of p53 protein expression was 54.5% (201/369) in the multi‑ethnic group, and was significantly different between sex (P=0.026) and between tumor differentiation groups (P=0.032). (spandidos-publications.com)
  • However, other previous studies reported that the expression of p53 protein had no significant association with the prognosis of esophageal cancer ( 18 , 19 ). (spandidos-publications.com)
  • The aim of this study was to investigate the expression and silencing of the S100A8 gene, which encodes the S100 calcium-binding protein A8 (S100A8), and apoptosis and phosphorylation of protein kinase B (Akt) in tissue samples of endometrial carcinoma and HEC-1A endometrial adenocarcinoma cells in vitro . (medscimonit.com)
  • Immunohistochemistry (IHC) was used to detect expression of the S100A8 protein in 74 tissue samples of endometrial cancer and 22 normal endometrial tissue samples. (medscimonit.com)
  • The effects of expression of the S100A8 gene by endometrial cancer cells was investigated by the MTT assay, cell cycle and apoptotic assays, qRT-PCR, and Western blotting. (medscimonit.com)
  • In addition to regulating cytoskeletal dynamics in the cytoplasm, actin modulates nuclear gene expression. (jneurosci.org)
  • We present a hitherto unappreciated cross talk of actin signaling with gene expression governing neuronal motility. (jneurosci.org)
  • Conversely, actin signaling regulates neuronal SRF-mediated gene expression. (jneurosci.org)
  • In addition to regulation of cytoplasmic cytoskeletal dynamics, a little appreciated property of actin signaling is modulation of gene expression so far only reported for non-neuronal cells. (jneurosci.org)
  • Localization, biological process, and co-expression data are used as powerful indicators for protein-protein interactions. (ugent.be)
  • De Bodt S, Proost S, Vandepoele K, Rouzé P, Van de Peer Y. Predicting protein-protein interactions in Arabidopsis thaliana through integration of orthology, gene ontology and co-expression. (ugent.be)
  • DMRs show continuous gain or loss of methylation during differentiation, and the overall change in DNA methylation correlates inversely with gene expression at key loci. (lu.se)
  • Our data reveal the differential expression landscape of 493 transcription factors and 682 lncRNAs and highlight specific expression clusters operating in HSCs. (lu.se)
  • Expression data further revealed that the legume bZIP genes were expressed constitutively or in an organ-specific, development-dependent manner playing roles in multiple seed developmental stages and tissues. (datadryad.org)
  • We also detected several key legume bZIP genes involved in drought- and salt-responses by comparing fold changes of expression values in drought-stressed or salt-stressed roots and leaves. (datadryad.org)
  • Conclusions: In summary, this genome-wide identification, characterization and expression analysis of legume bZIP genes provides valuable information for understanding the molecular functions and evolution of the legume bZIP transcription factor family, and highlights potential legume bZIP genes involved in regulating tissue development and abiotic stress responses. (datadryad.org)
  • After the co-culture, the increase in pro-inflammatory cytokine expression in the mutant cells was significantly lower than that in the control group, while that in immunosuppressive factors was not significantly different. (frontiersin.org)
  • Resistin significantly promoted the expression of inflammatory proteins in AML cells. (frontiersin.org)
  • The degree of methylation affects the expression of target genes and has a significant impact on cell proliferation, apoptosis, cytokine secretion, and cell activity ( 6 , 7 ). (frontiersin.org)
  • Cell-free gene expression systems have been valuable tools for understanding how transcription/translation can be regulated in living cells. (nature.com)
  • Many studies have investigated the determining factors that affect gene expression. (nature.com)
  • AFM observation of the DNA conformation indicates that longer DNA takes shrunken conformation with a higher segment density in the reaction mixture for gene expression, in contrast to the stiff conformation of shorter DNA. (nature.com)
  • We propose an underlying mechanism for the favorable effect of longer DNA on gene expression in terms of the enhancement of access of RNA polymerase to the shrunken conformation. (nature.com)
  • It is expected that the enhancement of gene expression efficiency with a shrunken DNA conformation would also be a rather general mechanism in living cellular environments. (nature.com)
  • Gene expression in living cells is strictly self-regulated to ensure that the correct amounts of proteins are made at the most appropriate timing and location for maintaining cellular homeostasis. (nature.com)
  • Gene regulation can occur at any point in gene expression, from the start of the transcription phase to the translation phase. (nature.com)
  • To elucidate the complex mechanism of gene regulation in living cellular systems, it is necessary to closely investigate each phase of gene expression and also to shed light on the cooperative effects between transcription and translation. (nature.com)
  • Although these factors have been studied extensively, little is known about how the length of the DNA template influences gene expression. (nature.com)
  • The expression level from luc 25.7k is 1000-times higher than that with luc 1.7k, indicating that the protein yield per target gene is increased by 1000-times of magnitude for a longer template, luc 25.7k (Fig. 1 d). (nature.com)
  • A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments or gene expression profiling. (senescence.info)
  • Projects focused on gene expression profiling of ageing and of dietary manipulations of ageing, such as caloric restriction. (senescence.info)
  • NCOR2 expression and its occupancy on peroxisome proliferator-activated receptor (PPAR) target gene promoters are increased with age in major metabolic tissues. (senescence.info)
  • Shifting its repressive activity towards PPARs, by selectively disabling one of its two major receptor-interacting domains, resulted in premature ageing in mice and related metabolic diseases accompanied by reduced mitochondrial function and antioxidant gene expression. (senescence.info)
  • A biological process that is crucial for gene expression in most animal life, including humans. (genomicglossaries.com)
  • Endogenous antisense RNAs function as regulators of gene expression by a variety of mechanisms. (genomicglossaries.com)
  • presents an opportunity to manipulate gene expression within the cells to treat various diseases, and acts as a powerful tool for studying gene function utilizing antisense agents to manage the diseases by regulating the expression of the specific factor that actually causes the particular disease. (genomicglossaries.com)
  • How do post-transcriptional events modulate the expression of functional macromolecules, including proteins and non-coding RNAs? (nih.gov)
  • NRL interacts with homeodomain protein CRX and numerous other regulatory factors to control expression of most rod-expressed genes. (nih.gov)
  • How do numerous non-coding variations in the human genome affect gene expression in the retina? (nih.gov)
  • GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. (genscript.com)
  • Protein expression is influenced by many factors that may vary between experiments or laboratories. (genscript.com)
  • Total RNA from tumors the expression of thousands of genes (3) to address complex questions was isolated using two successive rounds of Trizol. (lu.se)
  • Consequent abnormal expression of the cardiac and limb-specific T-box transcription factors lead to the malformations described in HOS. (medscape.com)
  • Part of transcription factor TFIIIC complex. (nih.gov)
  • Human transcription factor IIIC box B binding subunit. (nih.gov)
  • Purification and characterization of two forms of human transcription factor IIIC. (nih.gov)
  • The activity of transcription factor IIIC1 is impaired during differentiation of F9 cells. (nih.gov)
  • The transcription factor RBPJ is an integral part of the Notch signaling cascade. (mdpi.com)
  • Gsn ) and is the archetypical transcription factor to study actin interplay with transcription. (jneurosci.org)
  • C-fos is a transcription factor - a protein that triggers genes into action. (newscientist.com)
  • We previously discovered that that Maf-family bZIP transcription factor NRL is critical for rod photoreceptor fate and functional differentiation, and that loss of NRL leads to S-cones instead of rods. (nih.gov)
  • The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)
  • Congenital protein C deficiency is one of several inherited thrombophilias, which are a heterogeneous group of genetic disorders associated with an elevated risk of venous thromboembolism. (medscape.com)
  • A range of causative genetic alterations within the protein C promoter region and splice sites as well as in the coding sequence of the protein C gene itself have been reported. (medscape.com)
  • Individuals who are homozygous or compound heterozygous for a mutation or other genetic defect affecting the protein C, typically due to the inheritance of abnormal alleles from both parents, can experience neonatal purpura fulminans, intracranial thromboembolism, and thrombosis. (medscape.com)
  • Read on to learn about genetic and environmental factors that may increase it. (selfhacked.com)
  • Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)
  • Heritable factors explain up to 60% of the variation in IGF-I and IGFBP-3 in studies of adult twins.We systematically examined common genetic variation in 18 genes in the IGF signaling pathway for associations with circulating levels of IGF-I and IGFBP-3. (ox.ac.uk)
  • We saw no significant association between these multi-SNP predictors of circulating IGF-I or IGFBP-3 and risk of prostate or breast cancers.Common genetic variation in the IGF1 and SSTR5 genes seems to influence circulating IGF-I levels, and variation in IGFBP3 and IGFALS seems to influence circulating IGFBP-3. (ox.ac.uk)
  • However, these variants explain only a small percentage of the variation in circulating IGF-I and IGFBP-3 in Caucasian men and women.Further studies are needed to explore contributions from other genetic factors such as rare variants in these genes and variation outside of these genes. (ox.ac.uk)
  • In order to assess the role of genetic factors in this mechanism, we studied the association between tumor necrosis factor-α308 (TNF-α308) and myelin basic protein (MBP) 5ꞌ-side tetranucleotide repetitive sequence (TGGA) n gene polymorphism and DEACMP. (geneticsmr.com)
  • DEACMP may be the result of interaction of environmental and genetic factors. (geneticsmr.com)
  • Using genetic approaches we identified several genes that may be involve in the ability of a vector to transmit disease. (usda.gov)
  • We are also establishing a genetic database that will aid our understanding of vector biology and the genetic factors that may constitute barriers or enhancers of arbovirus infection. (usda.gov)
  • When considered together, this information will aid our understanding of vector biology and the genetic factors that may constitute barriers or enhancers of arbovirus infection. (usda.gov)
  • Made up of histone, a kind of protein, the nucleosomes are repeating units around which the double helix of DNA gets wrapped and vast amounts of genetic information get organized. (sciencedaily.com)
  • Experts think that a combination of genetic and environmental factors causes Parkinson's disease. (medicalnewstoday.com)
  • Huntington's disease is genetic , involving the Huntingtin (HTT) gene. (medicalnewstoday.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)
  • A genetic mutation causes increased plasma levels of prothrombin (factor II), predisposing to venous thrombosis. (msdmanuals.com)
  • Numerous genetic, acquired, and environmental factors can tip. (msdmanuals.com)
  • The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples. (msdmanuals.com)
  • A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
  • Furthermore, while a few genetic mutations, such as those in the amyloid precursor protein and presenilin-2 genes, have been found to be associated with early-onset Alzheimer's disease, most cases of dementia occur in older adults in whom no definitive genetic risk has been identified. (cdc.gov)
  • e.g. inflammation, genotoxicity, and This chapter focuses on issues as- ellers, growth factors, growth factor epigenetic alterations) and can have sociated with the understanding and receptors, signal transducers, and both genetic and epigenetic origins. (who.int)
  • [ 13 ] The presence of a second thrombophilic mutation such as factor V Leiden has been associated with a more severe phenotype in some protein C-deficient kindreds. (medscape.com)
  • The TP53 gene mutation is the most common gene alteration in many tumors, including esophageal cancer. (spandidos-publications.com)
  • Although the biological significance of TP53 gene mutation is well characterized, its clinical significance in esophageal cancer remains controversial, especially as a prognostic biomarker. (spandidos-publications.com)
  • Therefore, the overexpression of p53 does not always indicate a mutation in the TP53 gene. (spandidos-publications.com)
  • Similarly, TP53 mutation does not always lead to the accumulation of p53 protein in cells. (spandidos-publications.com)
  • In people with hemophilia, there is a mutation (difference from normal) in either the gene for the factor VIII protein or the gene for the factor IX protein. (cdc.gov)
  • The mutation causes the body to produce too little factor VIII or IX. (cdc.gov)
  • The DNMT3A mutation can cause significant changes in epigenetic modifications and is one of the essential regulatory factors for the occurrence and development of leukemia ( 4 ). (frontiersin.org)
  • Direct oral anticoagulants (DOACs) or warfarin can be used for prevention and treatment of venous thrombosis in patients with one (heterozygosity) or two (homozygosity) copies of the prothrombin 20210 gene mutation. (msdmanuals.com)
  • [ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
  • Mice homozygous for a null mutation in the plasma membrane Ca2+-ATPase isoform 2 (PMCA2) gene are deaf (Kozel et al. (cdc.gov)
  • 001). EGFR overexpression or high gene copy numbers had no significant influence on prognosis. (nih.gov)
  • EGFR overexpression is frequent in NSCLC, is most prominent in SCC, and correlates with increased gene copy number per cell. (nih.gov)
  • Remarkably, overexpression of Tld1, but not LD protein Pln1/Pet10, promotes TG accumulation without altering SE pools. (bvsalud.org)
  • The TP53 gene plays an important role in regulating the cell cycle, apoptosis and DNA damage repair ( 8 , 9 ). (spandidos-publications.com)
  • Wild-type TP53 can inhibit the cell cycle and activate apoptosis-related genes that induce apoptosis and regulate cell proliferation ( 10 ). (spandidos-publications.com)
  • This file includes the bZIPs protein sequences from Arabidopsis thaliana and six legume genomes (Glycine max,Medicago truncatula,Cajanus cajan,Cicer arietinum,Phaseolus vulgaris and Lotus japonicus). (datadryad.org)
  • The following BANF1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
  • These sequences represent the protein coding region of the BANF1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)
  • We have shown that OsPIF14 binds to the OsDREB1B promoter through two N-boxes and that the flanking regions of the hexameric core are essential for protein-DNA interaction and stability. (unl.pt)
  • Specifically, R-Smads are phosphorylated in the nucleus at the linker domain by CDK8 and 9, and these phosphorylations modulate the interaction of Smad proteins with transcriptional activators and repressors. (wikipedia.org)
  • Gene-environment interaction among GSTT1, PON2 polymorphisms and organic solvent s on gestational age in a Chinese women cohort. (cdc.gov)
  • However, unraveling large-scale protein-protein interaction maps is laborious and expensive. (ugent.be)
  • A highly reliable set of protein-protein interactions is predicted through this integrative approach making use of existing protein-protein interaction data from yeast, human, C. elegans and D. melanogaster. (ugent.be)
  • This may explain, in part, why protein C deficiency appears to be associated primarily with venous thrombosis. (medscape.com)
  • bHLH proteins are able to bind to hexameric E-box (CANNTG) or N-box (CACG(A/C)G) motifs, depending on transcriptional activity. (unl.pt)
  • NCOR2, also known as SMRT, is a transcriptional corepressor that maintains the transcriptional silencing of certain target genes. (senescence.info)
  • How do distinct transcriptional regulatory proteins coordinate their job with extrinsic factors and the microenvironment? (nih.gov)
  • The below findings should guide further investigational efforts, but they should not be interpreted as supportive of any health effect of Klotho protein in humans. (selfhacked.com)
  • Gene-editing offers a promising route towards permanent disease resistance, which could be passed down through generations, protecting poultry and reducing the risks to humans and wild birds. (ed.ac.uk)
  • A similar screen done in the Caenorhabditis elegans protein SMA (from gene sma for small body size) revealed three genes, Sma-2, Sma-3, and Sma-4, that had similar mutant phenotypes to those of the TGF-B like receptor Daf-4. (wikipedia.org)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • R62D-induced phenotypes strongly resemble neurons lacking SRF (Serum Response Factor). (jneurosci.org)
  • This gene is conserved and Y-specific among a wide range of mammals, and encodes a testis-specific transcript. (nih.gov)
  • The ABC superfamily of genes encodes proteins that transport a number of substrates across cell membranes. (medscape.com)
  • [ 6 ] ABCA12 encodes a transmembrane protein that mediates lipid transport. (medscape.com)
  • abstract = "DREB1/ CBF genes, known as major regulators of plant stress responses, are rapidly and transiently induced by low temperatures. (unl.pt)
  • article{748950, abstract = {{Background: Large-scale identification of the interrelationships between different components of the cell, such as the interactions between proteins, has recently gained great interest. (ugent.be)
  • ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)
  • Using a yeast one-hybrid screening, we identified a putative Phytochrome-Interacting bHLH Factor (OsPIF14), as binding to the OsDREB1B promoter. (unl.pt)
  • Aberrant promoter methylation of insulin-like growth factor binding protein-3 gene in human cancers. (nih.gov)
  • Here, we examined the methylation status of IGFBP-3 to correlate to clinicopathological factors in human cancers. (nih.gov)
  • The human homologue of Mad and Sma was named Smad1, a portmanteau of the previously discovered genes. (wikipedia.org)
  • The role of Klotho protein in human health and disease is not fully clear. (selfhacked.com)
  • One unit is equivalent to the Factor V activity in 1.0 mL of normal human plasma at pH 7.4 at 37 °C. (sigmaaldrich.com)
  • ARPs, actin-related proteins) exist between different lineages, they are active in specific processes such as growth, cancer metastasis and trichome development in yeast, human and Arabidopsis, respectively. (ugent.be)
  • In trying to understand how the malaria parasite multiplies in red blood cells, Le Roch's team found that in Plasmodium a kind of "histone crash" takes place -- a massive breakdown of histone that explains how the parasite can replicate extensively its DNA and coding gene in human red blood cells. (sciencedaily.com)
  • A curated database of candidate human ageing-related genes and genes associated with longevity and/or ageing in model organisms. (senescence.info)
  • Database of human genes associated with cellular senescence. (senescence.info)
  • June 5, 2019 About 20% of breast cancers make abnormally high levels of a protein called human epidermal growth factor receptor 2 (HER2). (sciencedaily.com)
  • More than half of all human genes are alternatively spliced, so it is expected that alternative pre- mRNA splicing will be responsible for the identification of more than 90 percent of all human proteins. (genomicglossaries.com)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)
  • pendent of those associated with cretory ducts, columnar epithelia the KRAS gene is more frequent- other key mechanistic characteris- lining the gastrointestinal tract and ly mutated in human cancer, which tics of IARC Group 1 carcinogens. (who.int)
  • All recognized mutations for AD are associated with increased deposition of amyloid-beta (Abeta), a peptide fragment comprising 39-43 amino acids that derive from the catabolism of the amyloid precursor protein (APP) molecule. (medscape.com)
  • Smads (or SMADs) comprise a family of structurally similar proteins that are the main signal transducers for receptors of the transforming growth factor beta (TGF-B) superfamily, which are critically important for regulating cell development and growth. (wikipedia.org)
  • Analysis of bovine mammary gland EST and functional annotation of the Bos taurus gene index. (genscript.com)
  • If they are successful, the virus will block the production of a crucial protein in the tumour cells. (newscientist.com)
  • In TGF-beta-treated MCF10A mammary epithelial cells overexpressing HER2 and by chromatin immunoprecipitation, we identified novel Smad targets including protein tyrosine phosphatase receptor type kappa (PTPRK). (nih.gov)
  • The epidermal growth factor receptor (EGFR) is frequently overexpressed in non-small-cell lung carcinoma (NSCLC), and EGFR inhibitors are promising new therapeutic agents. (nih.gov)
  • Factor Va serves as a receptor and positive effector of factor Xa. (sigmaaldrich.com)
  • KEGG enrichment and gene set enrichment analysis (GSEA) showed that a large number of genes were enriched in inflammatory immune-related pathways, such as the toll-like receptor signaling pathway. (frontiersin.org)
  • The linker region between MH1 and MH2 is not just a connector, but also plays a role in protein function and regulation. (wikipedia.org)
  • For example, viral infection, stress and the regulation of other proteins can also change the aggregation of p53 protein ( 20 ). (spandidos-publications.com)
  • Due to the complexity of gene regulation, unveiling the complete mechanism of gene regulation has been a long-standing quest. (nature.com)
  • The aforementioned complex factors have made it difficult to investigate the impact of the DNA length on gene regulation, which has been an unexplored topic. (nature.com)
  • SRF controls gene transcription of various actin isoforms (e.g. (jneurosci.org)
  • Actb , Acta1 ) and actin-binding proteins (e.g. (jneurosci.org)
  • Thus, herein we provide first evidence that neuronal motility not only depends on cytoplasmic actin dynamics but also on the availability of actin to modulate nuclear functions such as gene transcription. (jneurosci.org)
  • The PAFAH1B1 gene (also known as LIS1 ) provides instructions for making a protein that is one part (subunit) of a complex called platelet activating factor acetyl hydrolase 1B (PAFAH1B). (medlineplus.gov)
  • Most of these mutations change single amino acids in the PAFAH1B1 protein subunit. (medlineplus.gov)
  • Insulin-like growth factor binding protein-3 (IGFBP-3) is postulated to be a mediator of growth suppression signals. (nih.gov)
  • Insulin-like growth factor-binding proteins (IGFBPs) control bioavailability, activity, and distribution of insulin-like growth factor (IGF)1 and -2 through high-affinity IGFBP/IGF complexes. (rcsb.org)
  • Eighteen insulin-like growth factor pathway genes, circulating levels of IGF-I and its binding protein, and risk of prostate and breast cancer. (ox.ac.uk)
  • Circulating levels of insulin-like growth factor I (IGF-I) and its main binding protein, IGF binding protein 3 (IGFBP-3), have been associated with risk of several types of cancer. (ox.ac.uk)
  • Although SLTM also suppressed the ability of oestrogen to activate a reporter gene in MCF-7 breast-cancer cells, inhibition of a constitutively active beta-galactosidase gene suggested that this was primarily the consequence of a generalized inhibitory effect on transcription. (bris.ac.uk)
  • A stable S100A8 gene knockdown cell line was constructed using lentiviral packing short hairpin RNA (shRNA) transfected into HEC-1A cells. (medscimonit.com)
  • To prevent the emergence of escape viruses - viruses that adapt to evade the gene edit and cause infection - the research team next targeted additional sections of DNA responsible for producing all three proteins - ANP32A, ANP32B and ANP32E - inside lab-grown chicken cells. (ed.ac.uk)
  • In cell cultures in the lab, growth of the virus was successfully blocked in cells with the three gene edits. (ed.ac.uk)
  • PAFAH1B1 gene mutations that cause subcortical band heterotopia are usually present in only some of the body's cells, a situation known as mosaicism. (medlineplus.gov)
  • PAFAH1B1 gene mutations that occur in all of the body's cells (germline mutations) usually cause isolated lissencephaly sequence (described above). (medlineplus.gov)
  • The hope is that by switching off production of the protein, called c-fos, the cancer cells will die off and the tumours will disappear. (newscientist.com)
  • Holt and Arteaga do not know which particular set of genes c-fos switches on in cancer cells, but they have already succeeded in eradicating or shrinking tumours in mice by blocking the production of c-fos. (newscientist.com)
  • These sabotage protein production by disrupting the journey of the instructions from the c-fos gene on their way across the cell to the ribosomes - the protein factories of cells. (newscientist.com)
  • The virus is engineered so that the gene against c-fos will only be activated, or expressed, in breast cells. (newscientist.com)
  • The gene and its protein, both called RBM3, are vital for cell division in normal cells. (sciencedaily.com)
  • Researchers used new powerful technology to genetically "silence" the protein and reduce the level of RBM3 in cancerous cells. (sciencedaily.com)
  • Researchers have now investigated the protein eIF4A3 and its role in the growth of cancer cells. (sciencedaily.com)
  • We are now focused on delineating the transcription factors and signaling pathways that are responsible for generating photoreceptors from retinal progenitor cells. (nih.gov)
  • In the nucleus, SLTM has a punctate distribution and it does not co-localize with SR (serine/arginine) proteins. (bris.ac.uk)
  • Its activation into the serine-protease-like enzyme, activated protein C (aPC), is catalyzed by thrombin when it is bound to the endothelial proteoglycan thrombomodulin. (medscape.com)
  • Coagulation factors XIa and Xa are inhibited by ZPI, an Mr 72,000 serine protease inhibitor. (medscape.com)
  • Distinct pools of LDs exist, but a pervasive question is how proteins localize to and convey functions to LD subsets. (bvsalud.org)
  • S100A8 mRNA and S100A8 protein levels were detected by quantitative reverse transcription-polymerase chain reaction (qRT-PCR) and Western blotting. (medscimonit.com)
  • Because alternative RNA splicing allows different types of mRNA molecules to be created from a single gene, it generates the diversity of protein function and structure that is essential to complex organisms. (genomicglossaries.com)
  • High- fidelity mRNA amplification for gene profiling. (genomicglossaries.com)
  • Highly specific and effective gene silencing of any disease can be achieved by an accurate knowledge of the target mRNA sequence and rational design of its complementary antisense agents for the downregulation of its protein message. (genomicglossaries.com)
  • Bos taurus BAF nuclear assembly factor 1 (BANF1), mRNA. (genscript.com)
  • RNA interference (RNAi) of PTPRK accelerated cell cycle progression, enhanced response to epidermal growth factor (EGF), and abrogated TGF-beta-mediated antimitogenesis. (nih.gov)
  • The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)
  • It shares homology with the mating-type protein, Mc, from the fission yeast Schizosaccharomyces pombe and a conserved DNA-binding motif present in the nuclear high-mobility-group proteins HMG1 and HMG2. (nih.gov)
  • Among the many protease inhibitors in plasma, tissue factor pathway inhibitor (TFPI) and antithrombin are the ones that are most specifically involved in inhibition of coagulation factors. (medscape.com)
  • Therefore, TFPI makes a significant contribution to factor Xa inhibition in vivo. (medscape.com)
  • Thrombin, factor Xa, and factor IXa are the primary proteases that antithrombin targets,[7, 8] with heparin increasing its inhibition of coagulation factors. (medscape.com)
  • The presence of protein Z, a vitamin K-dependent plasma protein, increases its inhibition of factor Xa over 1000-fold. (medscape.com)
  • Fluorescence in situ hybridization (FISH) is a molecular pathological method with high sensitivity and specificity, which uses specific DNA probes to detect chromosomal aberrations, as well as gene deletion and amplification ( 21 , 22 ). (spandidos-publications.com)
  • Occasional patients have had a chromosomal rearrangement with a 4q12 breakpoint, such as t(1;4)(q44;q12), which ultimately led to the identification of the fusion gene or t(4;10)(q12;p11) (Cools et al. (atlasgeneticsoncology.org)
  • In the present study, we evaluated the efficiency of protein translation, focusing on the effect of DNA templates of different lengths on cell-free protein synthesis using a luciferase assay. (nature.com)
  • Following a 2-hour incubation period at 37°C, a factor VIII assay is used to determine residual factor VIII activity. (medscape.com)
  • Factor VIII inhibitors are the inhibitors that occur most commonly in the factor inhibitor assay. (medscape.com)
  • The results showed that there was association between MBP 5ꞌ-side TGGA n gene polymorphism and DEACMP, and that allele L could increase the risk of occurrence in male patients with DEACMP. (geneticsmr.com)
  • This change in a copy of the gene making factor VIII or factor IX is called a hemophilia allele. (cdc.gov)
  • This means that males only have one allele for factor VIII and one allele for factor IX. (cdc.gov)
  • The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease. (who.int)
  • In recent years, much focus has been placed on the role of the APOE 4 allele as a risk factor for Alzheimer's disease. (cdc.gov)
  • Protein C deficiency is a congenital or acquired condition that leads to increased risk for thrombosis. (medscape.com)
  • Causes of acquired protein C deficiency are also addressed. (medscape.com)
  • A deficiency of aPC disturbs the delicate balance between procoagulant and anticoagulant proteins and engenders a prothrombotic environment. (medscape.com)
  • Heterozygous protein C deficiency is inherited in an autosomal dominant fashion, however, in families with individuals with complete deficiency, the mode of inheritance is autosomal recessive. (medscape.com)
  • [ 9 ] These mutations are divided into 2 types-type I and type II-on the basis of whether they cause a quantitative (type I) or functional (type II) deficiency of protein C. (medscape.com)
  • Type I protein C deficiency refers to a quantitative deficiency in the plasma protein C concentration. (medscape.com)
  • There is marked phenotypic variation among families with heterozygous type I protein C deficiency. (medscape.com)
  • Type II protein C deficiency is less common than type I disease and is associated with decreased functional activity and normal immunologic levels of protein C. A number of point mutations within the protein C gene giving rise to this disorder have been described. (medscape.com)
  • In a mouse model, protein Z deficiency does not cause thrombosis, but it does significantly increase the thrombotic tendency of mice who simultaneously express the factor V Leiden genotype, a known thrombotic risk factor. (medscape.com)
  • Binding of TFIIIC to sine elements controls the relocation of activity-dependent neuronal genes to transcription factories. (nih.gov)
  • The abnormal PAFAH1B1 protein is less able to interact with microtubules and to attach (bind) to other subunits to form the PAFAH1B complex, both of which are needed for neuronal migration. (medlineplus.gov)
  • The study highlights the importance of responsible gene editing and the need to be alert to the risks of driving viral evolution in unwanted directions if complete resistance is not achieved, experts say. (ed.ac.uk)
  • Once inside a breast cell, the viral gene is reproduced as strands of "antisense" messenger RNA. (newscientist.com)
  • We used three different conditions: the same luc -gene concentration (Fig. 1 d), the same nucleotide-unit concentration (Fig. 1 e), and a combination of both (the same luc -gene and nucleotide-unit concentration adjusted by the addition of noncoding DNA, nc 2.6k) (Fig. 1 f). (nature.com)
  • The abbreviation refers to the homologies to the Caenorhabditis elegans SMA ("small" worm phenotype) and MAD family ("Mothers Against Decapentaplegic") of genes in Drosophila. (wikipedia.org)
  • One of the best techniques to detect the presence of the FIP1L1-PDGFRA fusion gene is using triple-color FISH probes hybridizing to the region between the FIP1L1 and PDGFRA genes incorporating the CHIC2 (cysteine-rich hydrophobic domain 2) gene. (atlasgeneticsoncology.org)
  • The role of aPC and other anticoagulant proteins in this balance appears to be especially important in the slow-flowing venous circulation, in which procoagulant proteins and platelet phospholipids have prolonged exposure to the vessel wall. (medscape.com)
  • An inhibitor exists for nearly every procoagulant, with the inhibitor to factor VIII being the most common. (medscape.com)
  • It seems that not until the technologies for working with nucleic acids and proteins are better integrated will their researchers be more connected than they are now. (genomicglossaries.com)
  • At least 120 mutations in the PAFAH1B1 gene have been found to cause isolated lissencephaly sequence (ILS). (medlineplus.gov)
  • In cancers, low oxygen levels in the tumors cause the amount of this protein to go up dramatically. (sciencedaily.com)
  • Anant said they found RBM3 protein in every stage of many cancers, and the amount of protein increased as the cancer grew. (sciencedaily.com)
  • The next step for Anant, Dr. Courtney Houchen and their research team at the OU Health Sciences Center is to develop agents that block the protein function in a variety of cancers. (sciencedaily.com)
  • ER protein determinations were performed using two-thirds of all breast cancers are ER at the time of diagnosis, the standard methods in the routine clinical laboratory (9). (lu.se)
  • SNPs in the IGFBP3 and IGFALS genes were significantly associated with circulating IGFBP-3. (ox.ac.uk)
  • RNA-seq results showed that transcription factors and macrophage inflammatory proteins were significantly downregulated in the DNMT3A mutant clones. (frontiersin.org)
  • In co-cultivated supernatants, the concentration of inflammatory factors in the experimental group was significantly lower than that in the control group, while that of immunosuppressive factors was significantly higher. (frontiersin.org)
  • aPC exerts its anticoagulant activity primarily through inactivation of coagulation factors Va and VIIIa , which are required for factor X activation and thrombin generation. (medscape.com)
  • Here, we show that the yeast protein YDR275W/Tld1 (for TG-associated LD protein 1) localizes to a subset of TG-containing LDs and reveal it negatively regulates lipolysis. (bvsalud.org)
  • Separate from its role in the PAFAH1B complex, the PAFAH1B1 protein is also likely involved in the organization of the cell's structural framework (the cytoskeleton). (medlineplus.gov)
  • This complex regulates the amount of a molecule called platelet activating factor (PAF) in the brain. (medlineplus.gov)