• This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. (nih.gov)
  • This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. (nih.gov)
  • This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. (nih.gov)
  • The mouse Pitx2 gene encodes three distinct protein isoforms (Pitx2a, b, c), and Pitx2c plays a determinant role in left-right atrium signaling from early somitogenesis onward 5 . (nature.com)
  • Mutations in the human gene that encodes Tbx5 result in congenital heart disease and, in particular, defects in the ventricular septum, the muscular wall that separates the ventricle into two sections. (sciencedaily.com)
  • Gene ID: 5925, OMIM 614041 ) gene, which encodes a tumor suppressor protein. (molvis.org)
  • The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)
  • The gene affected encodes a SH2D1A protein consisting only of a SH2 domain and a short C-terminal tail [Sayos et al. (lu.se)
  • These mitochondrial responses are governed by general principles of regulatory biology exemplified by changes in gene expression, protein translation, protein complex formation, transmembrane transport, enzymatic activities and metabolite levels. (nature.com)
  • Acetylation is one of protein modifications and important for gene expression by modulating activity or conformation of transcription factors and histones. (oatext.com)
  • Detailed mechanisms of protein complex dissociation by acetylation may provide new ways to prevent or treat human diseases such as cancer, metabolic diseases and their complications. (oatext.com)
  • Lysine acetylation is a protein modification as binding sites for Bromodomain-containing 'reader' proteins (BRD) critical to induce gene expression [4]. (oatext.com)
  • D) A simple and generalized model for active transcription mediated by lysine acetylation of histones and non-histone proteins through dissociation of protein complexes and conformation changes in nucleosomes or histones at the proximal promoter region. (oatext.com)
  • In addition to the functional role of Sp1 in gene regulation of 12(S)-lipoxygenase, recent studies have also demonstrated that Sp1 acting as an anchor protein to recruit transcription factor c-Jun is essential for growth factor and/or phorbol ester-induced expression of several genes. (ncku.edu.tw)
  • The protein produced from the MPLKIP gene does not appear to be involved in DNA repair. (medlineplus.gov)
  • The research shows how a specific protein that turns on genes is involved in heart formation in turtles, lizards and humans. (sciencedaily.com)
  • Tbx5 is a transcription factor, a protein that turns other genes on or off. (sciencedaily.com)
  • For cell multiplication to occur, the genes in a DNA strand need to first be transcribed and translated (converted) into protein. (sciencedaily.com)
  • The transcription factors then convert these genes into protein. (sciencedaily.com)
  • Their research confirmed that IL-21 activates STAT3, a protein that then connects with the promoter region of the gene encoding the T cell stimulatory protein CD28, firing up CD28. (newswise.com)
  • Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)
  • Human bronchial epithelial cell lines treated with DEHP or its primary metabolite, mono-(2-ethyl-5-hexyl) phthalate (MEHP), expressed significantly higher levels of IFNλs mRNA or protein than controls. (bvsalud.org)
  • ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency (SCID) caused by mutations in the gene coding for T cell receptor z-chain associated protein kinase [ Chan et al. (lu.se)
  • Noonan syndrome (NS) is caused by mutations in PTPN11 , a gene encoding the nonreceptor protein tyrosine phosphatase SHP2. (lu.se)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Variants (also called mutations) in at least 10 genes have been found to cause trichothiodystrophy. (medlineplus.gov)
  • [ 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)
  • X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK) [Väliaho et al. (lu.se)
  • Mutations in the PIK3R1 gene encoding phosphatidylinositol 3-kinase (PI3-kinase) have been found to cause severe insulin resistance [Baynes et al. (lu.se)
  • 1997]. Mutations in the STAT1 gene cause complete STAT1 deficiency. (lu.se)
  • 1998], and mutations in the STAT5B SH2 domain in humans lead to growth hormone insensitivity with immunodeficiency [Kofoed et al. (lu.se)
  • Although Bromodomain-containing proteins which bind to acetylated histones have critical roles to induce transcription, recent reports suggest that lysine acetylation-mediated dissociation from negatively charged Glutamic acid-rich acidic domain-containing proteins has a significant impact on the gene expression. (oatext.com)
  • Those proteins contain numerous factors related to DNA binding, transcriptional regulation, chromatin remodeling, suggesting that acetylation-mediated dissociation from acidic domain-containing proteins may be a key step to enhance the gene expression. (oatext.com)
  • Lysine acetylation-mediated dissociation from acidic domain-containing proteins as a key step for the gene expression. (oatext.com)
  • Combination of acetylation-mediated dissociation in the proximal promoter region and binding of bromodomain-containing 'reader' proteins (BRD) to lysine acetylation in the distal enhancer region may synergize to induce gene expression. (oatext.com)
  • The proteins produced from these genes work together as part of a group of proteins called the general transcription factor 2 H (TFIIH) complex. (medlineplus.gov)
  • Acetyl groups that connect to histone proteins cause a more "open" status for gene transcription. (newswise.com)
  • Transcription factor Nrf2 is a key regulator of genes encoding phase II detoxification enzymes and antioxidant proteins in response to environmental chemical insults. (cdc.gov)
  • Chromatin immunoprecipitation assay showed that MEHP treatment promoted histone modifications at H3 and H4 proteins at the promoter regions of Il28a and Il29 genes. (bvsalud.org)
  • In the first part we consider basic facts about the expression and activity of these transcription factors: the organization of the encoding genes and their promoters, the second messenger cascades converging on their regulatory promoter sites, the control of their transcription, the binding to dimeric partners and to specific DNA sequences, their trans-activation potential, and their posttranslational modifications. (nih.gov)
  • We then surveyed the distribution of stress-related cis -regulatory elements in the −1.5 kb promoter regions of ZmCAMTA genes. (frontiersin.org)
  • Notably, a large number of stress-related elements present in the promoter regions of some ZmCAMTA genes, indicating a genetic basis of stress expression regulation of these genes. (frontiersin.org)
  • CAMTAs participate in gene expression regulation by binding to the cis -elements in the promoter regions of numerous target genes. (frontiersin.org)
  • A recombinant nonreplicating human adenovirus type 5, Ad5HCMVsp1lacZ, expressing the lacZ gene under control of the human cytomegalovirus immediate early promoter, was used to assess the effect of heat-shock (HS) on DNA repair of a UV-damaged reporter gene. (mcmaster.ca)
  • c-Jun on Sp1/c-Jun complex is then recruited to gene promoter through the binding of Sp1 to Sp1-binding sites on gene promoter. (ncku.edu.tw)
  • Subsequent transactivation of the promoter activation of the human 12(S)-lipoxygenase gene is induced. (ncku.edu.tw)
  • Important regulatory factors, TFs bind to the promoter regions of target genes and activate or inhibit their transcription. (biomedcentral.com)
  • they can combine with the promoter regions of key genes in signaling pathways to regulate their transcription levels and, in turn, plant resistance to stress. (biomedcentral.com)
  • We also demonstrated that the −657 to +411 DCT promoter fragment efficiently directs RB cell-specific transcription of the luciferase reporter gene in cell lines. (molvis.org)
  • The regulatory elements required for this cell-specific gene expression are likely located within its proximal promoter. (molvis.org)
  • Drugs called histone deacetylase (HDAC) inhibitors protect the acetyl group connection and allow transcription factors to connect with genes' promoter regions to activate them. (newswise.com)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • Genome-wide identification and expression analysis of the bZIP transcription factor family genes in response to abiotic stress in Nicotiana tabacum L. (biomedcentral.com)
  • The basic leucine zipper (bZIP) transcription factor (TF) is one of the largest families of transcription factors (TFs). (biomedcentral.com)
  • Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease. (nih.gov)
  • Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. (cdc.gov)
  • This study shows that CRISPRi mediates precise transcriptional pausing, which can be followed by transcription termination. (nature.com)
  • The significant regulations of mammalian gene expression are deemed to occur at the level of transcriptional initiation and elongation [ 13 ]. (oncotarget.com)
  • Transcription factors (TFs) are critical for B-cell differentiation, affecting gene expression both by repres- sion and transcriptional activation. (lu.se)
  • In this study, we first identified all the CAMTA homologous genes in the whole genome of maize. (frontiersin.org)
  • Hence, to estimate the effects of transcription factors binding and histone modifications on gene expression, we construct a statistical model for the genome-wide 15 transcription factors binding data, 10 histone modifications profiles and DNase-I hypersensitivity data in three mammalian. (oncotarget.com)
  • Moreover, genome-wide statistical redundancies exist within and between transcription factors and histone modifications, and these phenomena may be caused by the regulation mechanism. (oncotarget.com)
  • In further study, we find that even though transcription factors and histone modifications offer similar effects on expression levels of genome-wide genes, the effects of transcription factors and histone modifications on predictive abilities are different for genes in independent biological processes. (oncotarget.com)
  • Methods: We used direct RNA sequencing to analyse transcript expression from the ChAdOx1 nCoV-19 genome in human MRC-5 and A549 cell lines that are non-permissive for vector replication alongside the replication permissive cell line, HEK293. (ox.ac.uk)
  • We found in our experiments that histones are massively evicted everywhere in the Plasmodium genome, resulting in most of the Plasmodium genes to be transcribed at once," Le Roch said. (sciencedaily.com)
  • EnsEMBL Regulation annotates regulatory features of the human genome, including transcription factor binding sites. (biostars.org)
  • Quantitative real-time PCR was used to test the expression of ZmCAMTA genes under several abiotic stresses (drought, salt, and cold), various stress-related hormones [abscisic acid, auxin, salicylic acid (SA), and jasmonic acid] and biotic stress [rice black-streaked dwarf virus (RBSDV) infection]. (frontiersin.org)
  • We investigated the expression of genes of interest using quantitative reverse transcription PCR. (molvis.org)
  • and the constitutive transcription factors (CTFs) CREB, CREM, ATF-2 and SRF as they pertain to gene expression in the mammalian nervous system. (nih.gov)
  • PIT1 is a pituitary-specific transcription factor responsible for pituitary development and hormone expression in mammals and is a member of the POU family of transcription factors that regulate mammalian development. (wikipedia.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 analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. (mousephenotype.org)
  • supplied by OMIM] Pituitary-specific positive transcription factor 1 has been shown to interact with GATA2 and PITX1. (wikipedia.org)
  • abstract = "The signal transduction of human 12(S)-lipoxygenase and the regulation of gene activation, induced by epidermal growth factor (EGF), are discussed in this review article. (ncku.edu.tw)
  • Although replication-defective in normal cells, 28 kbp of adenovirus genes is delivered to the cell nucleus alongside the SARS-CoV-2 S glycoprotein gene. (ox.ac.uk)
  • Adenovirus vector transcripts were almost absent in MRC-5 cells, but in A549 cells, there was a broader repertoire of adenoviral gene expression at very low levels. (ox.ac.uk)
  • Scientists have traced the evolution of the four-chambered human heart to a common genetic factor linked to the development of hearts in turtles and other reptiles. (sciencedaily.com)
  • During evolution, new genetic regulatory elements evolved to tell the Tbx5 gene to form a sharp boundary of Tbx5 expression. (sciencedaily.com)
  • Treatment of human epidermoid carcinoma A431 cells with EGF induces the gene expression of human 12(S)-lipoxygenase, and two Sp1 binding sites residing at -158 to -150 bp and -123 to -114 bp are essential in the mediation of EGF induction of the 12(S)-lipoxygenase gene. (ncku.edu.tw)
  • We reported here that Cd induces cytoprotective genes NAD(P)H-quinone oxidoreductase I (Nq01) and heme oxygenase I (Ho-1) via the Nrf2/Keap1 pathway. (cdc.gov)
  • The expression of most ZmCAMTA genes responded to both abiotic and biotic stresses. (frontiersin.org)
  • And H3K4me3, H3K27me3 and H3K9ac are more reliable predictors than other histone modifications in human embryonic stem cells. (oncotarget.com)
  • The T-box gene family is a group of related genes that play a critical role in human embryonic development. (medscape.com)
  • It is also reported that human PITX2 insufficiency results in cellular and molecular changes leading to atrial electrical and structural remodeling linked to arrhythmogenesis 6 . (nature.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)
  • A deep understanding of molecular mechanisms relevant to gene-environment interactions is needed to deliver etiology-based autoimmune disease prevention and treatment strategies. (frontiersin.org)
  • TFs can activate or block the initiation of gene transcription by binding to specific DNA sequences in enhancers or promoters [ 14 , 15 ] or recruiting some chromatin-modifying enzymes to induce the changes of chromatin structure [ 16 ]. (oncotarget.com)
  • 20 ] noticed that different combinations of HMs are needed for predicting the expression levels of genes with different CpG content promoters. (oncotarget.com)
  • I want to build a transcription factor-gene network so I need to find which TF binds to which gene? (biostars.org)
  • The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. (cdc.gov)
  • Transcription Factor SP2 Regulates Ski-mediated Astrocyte Proliferation In Vitro. (nih.gov)
  • Conversely, actin signaling regulates neuronal SRF-mediated gene expression. (jneurosci.org)
  • The gene involved, Tbx5, is also implicated in human congenital heart disease, so our results also bring insight into human disease. (sciencedaily.com)
  • The work also has important implications for the understanding of congenital heart defects, which are the most common human birth defect, occurring in one out of every one hundred births worldwide. (sciencedaily.com)
  • HMs are recognized to activate or inhibit transcription by either modulating the local chromatin structure to control TFs accessibility [ 17 ] or directly recruiting related enzymes [ 18 ]. (oncotarget.com)
  • 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)
  • However, further investigation of a larger population of patients with nail-patella syndrome (ideally sporadic) is needed to determine if this genotype-phenotype correlation is valid outside large pedigrees of nail-patella syndrome, which may be simultaneously segregating nephropathy-related genes. (medscape.com)
  • HSER in normal and XP-C cell lines, but not CS-A, XP-A, XP-D or XP-G cells, suggests that HS treatment can enhance the repair of UV-damaged DNA through an enhancement of transcription coupled repair (TCR) or a mechanism which involves the TCR pathway. (mcmaster.ca)
  • Now a research team has identified a mechanism by which Plasmodium intensively replicates itself in human blood to spread the disease. (sciencedaily.com)
  • We also investigated the mechanism of DEHP in human lung epithelial cells and asthma animal models. (bvsalud.org)
  • The table below shows human diseases associated to Tfe3 by orthology or direct annotation . (mousephenotype.org)
  • The table below shows human diseases predicted to be associated to Tfe3 by phenotypic similarity . (mousephenotype.org)
  • Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. (nih.gov)
  • Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. (nih.gov)
  • TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). (nih.gov)
  • Transcription factor 7-like 2 ( TCF7L2 ) variants have been associated with type 2 diabetes mellitus (T2DM) in multiple ethnic groups. (medscape.com)
  • TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)
  • This region was later fine-mapped in the Icelandic population and confirmed in US and Danish cohorts, where the risk locus was found to be located in intron 3 of the TCF7L2 gene. (medscape.com)
  • Key Amino Acid Residues of Mitochondrial Transcription Factor A Synergize with Abasic (AP) Site Dynamics To Facilitate AP-Lyase Reactions. (nih.gov)
  • Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer. (nih.gov)
  • Downregulated mitochondrial transcription factor A enhances mycoplasma infection to promote the metastasis of hepatocellular carcinoma. (nih.gov)
  • 19 ] found that HMs or TFs binding in different positions show different predictive abilities, and they suggested HMs and TF binding may be redundant for predicting gene expression levels. (oncotarget.com)
  • HS enhanced reactivation (HSER) of the reporter gene was detected in normal cells, HT29 tumour cells and XP-C fibroblasts. (mcmaster.ca)
  • Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of CNOT1 gene with response to the treatment. (nih.gov)
  • 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)
  • Variants in the ERCC2 , ERCC3 , or GTF2H5 genes reduce the amount of TFIIH complex within cells, which impairs both DNA repair and gene transcription. (medlineplus.gov)
  • In the cells of eukaryotes, such as the unicellular Plasmodium and humans, DNA, which can be as long as two meters, is closely packed to fit into the cell's tiny nucleus. (sciencedaily.com)
  • Gene-environment interactions, sunlight and vitamin D, and T lymphocytes as autoimmune disease initiators and vitamin D targets are discussed to explain the rationale for reviewing vitamin D mechanisms in T cells. (frontiersin.org)
  • Thus, human endocrine cells are not in direct contact with the vascular BM components but with the invaginated peri-islet membrane. (nature.com)
  • Expression of DCT was absent or barely detected in retina tissues, various human ocular cells, and major organs. (molvis.org)
  • To further confirm the central memory properties of treated cells, the team assessed expression of genes involved in differentiating T cells and found expression of central-memory differentiating genes to be highly expressed on the identified central memory cells generated by the combination. (newswise.com)
  • The effect of DEHP on IL-33 production was investigated in human lung epithelial cells and club cell-specific aryl hydrocarbon receptor (AhR) deficiency mice. (bvsalud.org)
  • A trans-maternal murine model mimicking human DEHP exposure way showed that bone marrow-derived dendritic cells from maternal DEHP-exposed F1 offspring secreted higher IL-28A levels than control cells, indicating a potential causal relationship. (bvsalud.org)
  • In vitro, treatment of CuSO4 in lung epithelial cells at 100 µM consistently decreases cell viability in alveolar type (A549) and human bronchial epithelial (HBE) cells. (bvsalud.org)
  • 16 pulmonary retention percentage of approximately 50% in human volunteers (ATSDR 1999). (cdc.gov)
  • Stochastic models of gene transcription with upstream drives: exact solution and sample path characterization. (crossref.org)
  • Furthermore, the expression pattern of ZmCAMTA genes under RBSDV infection was analyzed to investigate their potential roles in responses of different maize cultivated varieties to RBSDV. (frontiersin.org)
  • In humans and other mammals, Tbx5 levels are high in the left ventricle and low in the right. (sciencedaily.com)
  • Upon depletion of RBPJ using CRISPR/Cas9, we observed specific upregulation of Notch target gene expression. (mdpi.com)
  • Clinical trials will be required to advance his team's findings in human T cell lines. (newswise.com)
  • These beneficial biological properties have been extensively studied in humans and animal models, both in vitro and in vivo . (hindawi.com)
  • Copper is an essential trace element involved in several vital biological processes of the human body. (bvsalud.org)
  • Transcription factor Sp2 promotes TGFB-mediated interstitial cell osteogenic differentiation in bicuspid aortic valves through a SMAD-dependent pathway. (nih.gov)
  • Cadmium coordinates up-regulation of cytoprotective genes and protection agains metal toxicity by inhibiting the ubiquitination of Nrf2 and disrupting the Nrf2/Keap1 complex. (cdc.gov)
  • POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1), also known as POU1F1, is a transcription factor for growth hormone. (wikipedia.org)
  • STAT5B acts as a part of the growth hormone signalling pathway leading to stimulation of insulin-like growth factor I (IGF-I) gene transcription [Woelfle et al. (lu.se)
  • Host cell reactivation (HCR) of beta-galactosidase (beta-gal) activity for UV-irradiated Ad5HCMVsp1lacZ was used as an indicator of DNA repair in the transcribed strand of an active gene. (mcmaster.ca)
  • Remarkably, our results show POLR2A and H3K36me3 can highly and consistently predict gene expression in three cell lines. (oncotarget.com)
  • Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy. (crossref.org)
  • The Human Cell Atlas. (crossref.org)
  • Animal modeling and human mechanistic data are summarized to support the view that vitamin D probably influences thymic negative selection, effector Th1 and Th17 pathogenesis and responsiveness to extrinsic cell death signals, FoxP3 + CD4 + T-regulatory cell and CD4 + T-regulatory cell type 1 (Tr1) cell functions, and a Th1-Tr1 switch. (frontiersin.org)
  • Whereas α2 laminins promoted islet cell clustering, they did not affect gene expression. (nature.com)
  • In contrast, culturing on Laminin-421 induced the expression of β-cell genes, including Ins1 , MafA , and Glut2 , and significantly improved glucose-stimulated insulin secretion. (nature.com)
  • The team treated human T cell lines with the HDAC inhibitor vorinostat and IL-21. (newswise.com)
  • CuSO4 promotes epithelial-mesenchymal transition (EMT) as shown by increased cell migration and increased EMT marker and fibrotic gene expressions. (bvsalud.org)
  • Public health officials and others concerned with appropriate actions to take at hazardous waste sites may want information on levels of exposure associated with more subtle effects in humans or animals (LOAELs) or exposure levels below which no adverse effects (NOAELs) have been observed. (cdc.gov)
  • The calmodulin-binding transcription activators (CAMTA) play critical roles in plant growth and responses to environmental stimuli. (frontiersin.org)
  • Studies on the developmental onset of the teleost circadian clock have been carried out in zebrafish and, recently, in rainbow trout and Senegalese sole, where rhythms of clock gene expression entrained by light-dark (LD) cycles have been reported from the first days post fertilization. (researchgate.net)