• functional" genes encoding proteins such as late embryogenesis-associated proteins, detoxification enzymes, heat shock proteins and molecular chaperones, which directly protect plants from abiotic stress, and "regulatory" genes encoding proteins such as protein kinases and transcription factors (TFs), which have roles in the perception and transduction of stress signals. (biomedcentral.com)
  • This domain is found in a family of animal peptidoglycan recognition proteins homologous to Bacteriophage T3 lysozyme [ ( PUBMED:9707603 ) ], and some bacterial homologues. (embl-heidelberg.de)
  • Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. (nih.gov)
  • Since the discovery of the Kn1 gene, a large number of transcription factor (TF) genes encoding proteins with homeodomains have been found in all plants and there are about 135 family members in maize. (grassius.org)
  • A member of the KNOTTED class of homeodomain proteins encoded by the STM gene of Arabidopsis. (grassius.org)
  • Mutational genomics and targeted exome capture identify Sr26 and Sr61 as separate single genes that encode unrelated (34.8%) nucleotide binding site leucine rich repeat proteins. (nature.com)
  • Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. (icr.ac.uk)
  • These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. (utsouthwestern.edu)
  • The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. (utsouthwestern.edu)
  • RNA-seq identifies a novel set of TEAD4 target genes encoding muscle structural and regulatory proteins and those required for the unfolded protein response. (nih.gov)
  • sip-1 encodes a member of the heat shock family of proteins. (igem.org)
  • This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. (nih.gov)
  • This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. (bicnirrh.res.in)
  • many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. (bicnirrh.res.in)
  • In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerization with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes (PubMed:19489739, PubMed:29590092). (bicnirrh.res.in)
  • Emerin is a ubiquitous inner nuclear membraneprotein, presentin nearly all cell types, although its highest expression is in skeletal and cardiacmuscle.Emerin binds to many nuclear proteins, including several gene-regulatory proteins (eg, barrier-to-autointegration factor, germ cell-less, Btf), nesprins (proteins that act as molecular scaffolds), F-actin, and lamins. (medscape.com)
  • Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. (thermofisher.com)
  • These studies have identified mutations in the mRNA and protein coding regions of this gene that result in the synthesis of an abnormal mRNA or protein. (diabetesjournals.org)
  • This mutation is located in a highly conserved region of the promoter and disrupts the binding site for the transcription factor HNF-4α, mutations in the gene encoding HNF-4α being another cause of MODY (MODY1). (diabetesjournals.org)
  • Moreover, it indicates that both the promoter and coding regions of the HNF-1α gene should be screened for mutations in subjects thought to have MODY because of mutations in this gene. (diabetesjournals.org)
  • CRLF2 alterations are associated with the presence of activating mutations in the JAK genes JAK1 and JAK2 (Russell et al. (atlasgeneticsoncology.org)
  • reviewed in Roll and Reuther, 2010), as well as mutations of the lymphoid transcription factor gene IKZF1 (IKAROS) (Harvey et al. (atlasgeneticsoncology.org)
  • Cancer genome sequencing reveals diverse acquired mutations in CTCF , which we have shown, functions as a tumour suppressor gene. (preprints.org)
  • Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. (wikidoc.org)
  • Plasmids received from external sources or created by PCR-based methods often contain point mutations, which may initially go unnoticed, but can pose problems in further cloning steps or gene expression. (hes-so.ch)
  • The effects of gene polymorphisms (mutations) on lipoprotein metabolism in response to dietary fat and cholesterol have drawn increasing attention in recent years. (hes-so.ch)
  • Mutations in this gene are a cause of Rotor type hyperbilirubinemia. (antibodypedia.com)
  • Mutational analysis revealed point-mutations in the SOD1 gene to cosegregate with the disease in these pedigrees. (bmj.com)
  • The various forms of Waardenburg syndrome (WS), a neurocristopathy, arise from mutations in multiple genes. (medscape.com)
  • [ 6 ] Therefore, mutations in the PAX3 gene could affect regulation of the MITF gene, leading to abnormalities of melanocyte differentiation. (medscape.com)
  • Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)
  • Novel mutations of PAX3 , MITF , and SOX10 genes have been described in Chinese patients with WS1 or WS2. (medscape.com)
  • Mutations in the MITF gene, located on chromosome band 3p14.1-p12.3, cause some cases of WS2. (medscape.com)
  • In 5 of 6 gene mutations that have been shown to cause EDMD, the affected protein is present in the LINC (linker of nucleoskeleton and cytoskeleton) complex. (medscape.com)
  • EDMD1 is caused by mutations in the EMD gene on the X chromosome that codes for the nuclear envelope protein emerin. (medscape.com)
  • Mutations occur throughout the gene and almost always result in complete absence of emerin from muscle or mislocalization of emerin. (medscape.com)
  • EDMD2/EDMD3 is due to mutations (autosomal dominant and autosomal recessive, respectively) in the LMNA gene that codes for lamins A and C. Mutations in LMNA occur throughout the gene and can cause several different phenotypes (see Causes). (medscape.com)
  • New mutations have been found in the synaptic nuclear envelope protein 1 (SYNE1) gene and in the synaptic nuclear envelope protein 2 (SYNE2) gene in a few families, also termed Nesprin-1 and Nesprin-2, respectively. (medscape.com)
  • Lastly, mutations in the transmembrane protein 43 (TMEM43), also termed LUMA, which binds to emerin and SUN2, has also been reported to cause an EDMD phenotype in a few families. (medscape.com)
  • Mutations in all of these genes have been shown to result in defects in the nucleoskeleton and related structures that could cause the above pathologic abnormalities. (medscape.com)
  • No good data exist concerning the frequency of EMD1 or EMD2, but more than 70 different mutations have been reported in the EMD gene and more than 100 in LMNA. (medscape.com)
  • A European collaborative study found LMNA mutations in 18 families and 39 sporadic cases with an EMD2 phenotype. (medscape.com)
  • Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. (cdc.gov)
  • Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation. (cdc.gov)
  • Mutations of chronic granulomatous disease in Turkish families. (lu.se)
  • Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease. (lu.se)
  • Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene. (lu.se)
  • Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. (lu.se)
  • Mutations in multiple genes cause the various forms of Waardenburg syndrome (WS). (medscape.com)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • Mutations in genes concerned with production of enzymes for metabolism of tobacco products may lead to increased risk of carcinogenesis with respect to oral mucosa. (bvsalud.org)
  • 20 000 protein coding genes (Parsons mutations. (who.int)
  • from April 2008) after acquisition of a TP53 mutation or loss of 1p/19q, suggesting that IDH1 We assessed IDH1 mutations in brain mutations are very early events in tumors diagnosed in patients from 3 gliomagenesis and may affect a common families with Li-Fraumeni syndrome. (who.int)
  • These mutations could also occur sporadically in which case the lack of a family history would make the diagnosis even more difficult. (medscape.com)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • The presence of a homeodomain (HD), which comprises 60 amino acids, makes a three-helix tertiary structure, that binds the promoter regions of specific target genes (Sharif et al. (grassius.org)
  • Using this database, researchers can quickly retrieve the expression level data for target genes in different tissues and in response to different treatments to elucidate gene functions and explore the biology of rapeseed at the transcriptome level. (preprints.org)
  • It has also been demonstrated that STAT1 (Signal Transducer And Activator Of Transcription 1), a transcription factor (TF) crucially involved in the IFNγ pathway, binds consensus sequences that, in humans, are located with a high frequency in the LTRs (Long Terminal Repeats) of the MER41 family of primate-specific HERVs (Human Endogenous Retrovirus). (biorxiv.org)
  • This protein is a transcriptional activator which binds to the TLX1 promoter. (genscript.com)
  • This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. (wikidoc.org)
  • Dot1a binds Af9 and represses several aldosterone-upregulated genes including and promoter promotes H3 di-methyl K79 (H3m2K79) and inhibits transcription [24] [27]. (bioskinrevive.com)
  • Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralizing reactive electrophiles (PubMed:11035812, PubMed:19489739, PubMed:29018201, PubMed:31398338). (bicnirrh.res.in)
  • The regulatory elements required for this cell-specific gene expression are likely located within its proximal promoter. (molvis.org)
  • In this study, by characterization of the dominant maize mutant Barren inflorescence3 ( Bif3 ) we identified a tandem-duplicated copy of ZmWUS1 whose expression is dramatically enhanced by the insertion of a short stretch of chimeric proximal promoter sequence. (nature.com)
  • Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). (nih.gov)
  • The gene is located within the major histocompatibility complex (MHC) on chromosome 6. (genscript.com)
  • 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)
  • Schematic diagram of the human X chromosome indicating the location of the P2RY8 gene. (atlasgeneticsoncology.org)
  • The P2RY8 gene is located on both chromosomes X and Y. It was discovered by Cantagrel and co-workers while investigating a pericentric inversion on the X chromosome, inv(X)(p22.3 q13.2), in a family with mental retardation. (atlasgeneticsoncology.org)
  • Fusion gene: a 320-kb large interstitial deletion within the pseudoautosomal region 1 (PAR1) on chromosome X [del(X)(p22.33p22.33)] and chromosome Y [del(Y)(p11.32p11.32)] results in juxtaposition of the first non-encoding exon of P2RY8 to the CRLF2 coding region to form P2RY8-CRLF2 fusion which leads to over-expression of full-length CRLF2. (atlasgeneticsoncology.org)
  • Here, we isolate from wheat, Sr26 and Sr61 , with both genes independently introduced as alien chromosome introgressions from tall wheat grass ( Thinopyrum ponticum ). (nature.com)
  • derived Sr gene, Sr61 (previously designated SrB ), was identified in South African wheat accession W3757, which carries a 6Ae#3 (6D) chromosome substitution 16 . (nature.com)
  • Our results revealed that the FOXP1 and TP63 genes were both relocated along chromosome 3. (biomedcentral.com)
  • Linkage analysis in 18 familial ALS pedigrees associated the gene encoding Cu/Zn superoxide dismutase ( SOD1 ) on chromosome 21 to the syndrome. (bmj.com)
  • Lateral gene transfers resulted in different linkages between the ospC gene and loci of the chromosome or other plasmids. (cdc.gov)
  • 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)
  • Two transcript variants encoding the same protein have been identified for this gene. (thermofisher.com)
  • Alternative splicing results in multiple transcript variants encoding different isoforms. (nih.gov)
  • This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. (utsouthwestern.edu)
  • Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. (wikidoc.org)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (nih.gov)
  • Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. (antibodypedia.com)
  • Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. (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)
  • For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
  • We analyzed respective gene promoters' sequences using in silico methods for identification of transcription binding sites, mainly in the NF-κB- and IRF-coding genes. (biomedcentral.com)
  • Here, we present evidence that the promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MER41 HERVs. (biorxiv.org)
  • Of note, functionally-relevant differences between humans and chimpanzees are observed regarding the 3 main components of this pathway: i) the protein sequences of immunes TFs binding MER41 LTRs, ii) the insertion sites of MER41 LTRs in the promoter regions of ID-associated genes and iii) the protein sequences of the targeted ID-associated genes. (biorxiv.org)
  • The following PBX2 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 PBX2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)
  • Sr26 and Sr61 are each validated by transgenic complementation using endogenous and/or heterologous promoter sequences. (nature.com)
  • We used this information to develop the BrassicaEDB, including eFP, Treatment, Coexpression, and SRA Project modules based on gene expression profiles and Gene Feature, qPCR Primer, and BLAST modules based on gene sequences. (preprints.org)
  • In the current report, a systematic approach is implemented to catalogue regulatory elements within HERVs, as a roadmap to potential functions of HERV sequences in gene networks. (mdpi.com)
  • I analyzed the presence of HERV sequences on consensus cis-regulatory elements (cCREs) from ENCODE data. (mdpi.com)
  • The genome of the bacteriophage T. ufvareg1 contains 268 coding DNA sequences (CDS) and ten tRNA genes distributed in both negative and positive strains. (bvsalud.org)
  • More recently, nine roo insertions were also described in the promoter region of another stress response gene, CG18446 that encodes a nucleic acid binding protein [ 10 ]. (biomedcentral.com)
  • They play an important role in horizontal gene transmission and carry accessory genes that may provide interesting phenotypes for the bacteria. (bvsalud.org)
  • Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
  • Four cis-regulatory elements namely WBOX, DRE, CBF, and GCC boxes, that commonly occur in resistance genes, were present in the promoter regions of these genes. (ncl.res.in)
  • A comprehensive understanding of gene expression in human RB is essential for the development of safe and effective new therapies. (molvis.org)
  • We reviewed published microarray and RNA sequencing studies in which gene expression profiles were compared between human RB and normal retina tissues. (molvis.org)
  • We investigated the expression of genes of interest using quantitative reverse transcription PCR. (molvis.org)
  • Many of these genes showed diverse salt- and drought-responsive expression patterns in roots and leaves. (biomedcentral.com)
  • TFs can interact with the promoter regions of gene and thereby alter gene expression patterns. (biomedcentral.com)
  • These effects are, in part, mediated by sustained alterations in gene expression in selected brain regions. (deepdyve.com)
  • Pharmacological reversal of the effects on chromatin structure completely eliminates the effects of maternal care on glucocorticoid receptor expression and hypothalamic-pituitary-adrenal (HPA) responses to stress, thus suggesting a causal relation between the maternally induced, epigenetic modification of the glucocorticoid receptor gene and the effects on stress responses in the offspring. (deepdyve.com)
  • One bacteria-induced gene encodes a proteinthat, after expression in the baculovirus system, was shown to be apeptidoglycan recognition protein (PGRP). (embl-heidelberg.de)
  • It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. (nih.gov)
  • Using retroviral expression screening for transforming genes in biphenotypic acute leukaemia, P2RY8 has been confirmed to have oncogenic potential (Fujiwara et al. (atlasgeneticsoncology.org)
  • An interstitial deletion of the pseudoautosomal region 1 (PAR1) of either of the sex chromosomes results in juxtaposition of the first noncoding exon of the P2RY8 gene to the first exon of CRLF2, such that CRLF2 expression from this chimeric locus is driven by the P2RY8 promoter. (atlasgeneticsoncology.org)
  • A distinct ZmFCP1-FEA3 ligand-receptor combination, originally identified in maize, prevents WUS gene expression in the region below the OC (also called rib zone, RZ), thus confining WUS expression within the OC of meristems 6 . (nature.com)
  • Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
  • Strikingly, immunohistochemistry analysis showed altered protein levels, disclosing that this rearrangement triggered the expression of FOXP1 and TP63 genes. (biomedcentral.com)
  • This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. (utsouthwestern.edu)
  • We determined the expression patterns of 101,040 genes via FPKM analysis and displayed the results using the eFP browser. (preprints.org)
  • The BrassicaEDB provides comprehensive gene expression profile information and a user-friendly visualization interface for Brassica crop researchers. (preprints.org)
  • All four DPP4-like genes were overexpressed in liver tumours and their joint high expression was associated with poor survival in HCC. (preprints.org)
  • High expression of genes that positively correlated with overexpression of DPP4, DPP8, and DPP9 were associated with very poor survival in HCC. (preprints.org)
  • We also analysed the impact of CTCF haploinsufficiency by examining gene expression changes in CTCF -altered endometrial carcinoma. (preprints.org)
  • In melanocytic cells CAPN3 gene expression may be regulated by MITF . (wikidoc.org)
  • This line was used to generate connecting tube/collecting duct (CNT/CD)-specific or mice [29] which drive Cre recombinase expression under the control of regulatory elements of the mouse gene. (bioskinrevive.com)
  • Together these results show that TEAD factor activity is essential for normal C2C12 cell differentiation and define a novel and non-redundant role for TEAD4 in regulating expression of the unfolded protein response genes. (nih.gov)
  • Promoters were selected based on their utility, strength of expression, and ease of avoiding potentially harmful cutsites. (igem.org)
  • Promoters that confer expression in fruit tissues are important tools for genetic engineering of fruit quality traits, yet few fruit-specific promoters have been identified, particularly for citrus fruit development. (biomedcentral.com)
  • Stable transformation in Micro-Tom tomato demonstrated that the candidate promoter regions exhibit differing levels of expression and with varying degrees of fruit specificity. (biomedcentral.com)
  • Among the five candidate citrus promoters characterized in this study, the CitSEP promoter showed a fruit-specific expression pattern, while the CitWAX and CitJuSac promoters exhibited high fruit-preferential expression with strong activity in the fruit, weak activity in floral tissues and low or undetectable activity in other tissues. (biomedcentral.com)
  • The CitVO1, CitUNK and PamMybA promoters, while exhibiting strong fruit-preferential expression, also showed consistent weak but detectable activity in leaves and other vegetative tissues. (biomedcentral.com)
  • Use of these fruit specific/preferential promoters for genetic engineering can help with precise expression of beneficial genes and help with accurate prediction of the activity of new genes in host fruit plants. (biomedcentral.com)
  • Promoters that are capable of driving fruit-specific or fruit-preferential expression would be valuable tools for engineering improved fruit traits, such as better growth, ripening, nutritional quality, and post-harvest shelf life. (biomedcentral.com)
  • The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes (PubMed:20452972). (bicnirrh.res.in)
  • The accumulation of TEs in the promoter of hsp genes was explained by the chromatin conformation of this particular region, and by selection favoring the retention of TEs because of their effect on gene expression [ 8 ]. (biomedcentral.com)
  • Bone marrow & Lymphoid tissues Brain Breast and female reproductive system Connective & Soft tissue Endocrine tissues Eye Gastrointestinal tract Kidney & Urinary bladder Liver & Gallbladder Lymphoid Male reproductive system Muscle tissues Myeloid Pancreas Proximal digestive tract Respiratory system Skin * nTPM: Normalized TPM levels represent consensus gene expression calculated using two data sets. (antibodypedia.com)
  • The first suggests that disruption of the inner nuclear membrane and the nuclear lamina causes disorganization of nuclear chromatin and gene expression, while the second proposes that the mechanical strength of the cell nucleus is disrupted when the nuclear lamina is weakened leading to structural and signaling defects in mechanically stressed tissue such as muscle and heart. (medscape.com)
  • This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
  • Therefore variations in the expression of these genes due to heritable genetic polymorphisms might modulate the process of carcinogenesis by altering the exposure levels of tobacco derived carcinogens. (bvsalud.org)
  • Alteration of the pattern of gene expression by oxidants may function in the stimulation of the initiated cell during tumor promotion. (bvsalud.org)
  • Molecular cloning and characterization of the mouse tag7 gene encoding anovel cytokine. (embl-heidelberg.de)
  • Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease. (lu.se)
  • Recent advances have been made in the of host factors, polymorphisms, and candidate genes associated characterization of the immune response to low-molecular- with occupational asthma may improve our understanding of weight agents. (cdc.gov)
  • This comprises a 381-bp prosequence, a 333-bp sequence encoding the light chain and a 1,392-bp sequence encoding the heavy chain. (wikipedia.org)
  • The promoter sequence for human eosinophil peroxidase is an unusually strong promoter. (wikipedia.org)
  • Human endogenous retroviruses (HERVs) are a family of endogenous retroviruses that comprise the ~8.93% of the human genome sequence, with a high proportion being human specific. (mdpi.com)
  • Around 50% NBS-LRRs reside in macro-syntenic blocks underlining positional conservation along with sequence conservation of NBS-LRR genes in chickpea. (ncl.res.in)
  • Here, we report an Italian family in which an A→C substitution at nucleotide -58 of the promoter region of the HNF-1α gene cosegregates with MODY. (diabetesjournals.org)
  • At smaller genomic scales, promoter regions of hsp genes and the promoter region of CG18446 have been shown to accumulate TE insertions. (biomedcentral.com)
  • Interestingly, most of their encoding genes reside in hypermethylated genomic regions: thus, their tumor suppressor function is normally disallowed in these tumors. (oncotarget.com)
  • Our in silico findings report that there is cross-regulation between both pathways at the level of gene transcription regulation, mediated by the presence of binding sites for both factors in promoters of genes essential for these pathways. (biomedcentral.com)
  • In this paper we examine evidence for a direct crosstalk of the NF-κB and IRF3 signaling pathways at the lowest level, between main transcription factors and genes coding for these transcription factors. (biomedcentral.com)
  • To cope with these environmental stresses, plants activate defense responses, including the activation of sets of metabolic pathways and genes. (biomedcentral.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Enriched pathways analysis of these positively correlated genes featured Toll-like receptor and SUMOylation pathways. (preprints.org)
  • Genetic analysis of plant architecture has led to the discovery of key genes that function in meristems, including the maize ( Zea mays ) transcription factor knotted1 ( kn1 ), the founding member of the kn1 homeobox ( knox ) gene family (Vollbrecht et al. (grassius.org)
  • Since genetic dissection of genes within alien segments in wheat was not possible due to lack of recombination, the question arose as to whether the apparent durability of such resistances might be due to multiple genes rather than a single gene. (nature.com)
  • Despite extensive genetic analysis, the function of TEAD factors in muscle differentiation has proved elusive due to redundancy amongst the family members. (nih.gov)
  • In this study, we report five citrus fruit-specific/preferential promoters for genetic engineering. (biomedcentral.com)
  • Interaction annotations are curated by BioGRID and include physical or genetic interactions observed between at least two genes. (yeastgenome.org)
  • Despite the initial enthusiasm and multiple clinical trials, there is still no FDA-approved gene therapy for CF. This review details the history of CF gene therapy and outlines the progress toward the development of a genetic treatment for all people with CF. The cover image is a 3D rendering of a newborn pig lung CT image (image reconstructed by Carley Stewart). (mdpi.com)
  • and during this study the genetic characterisation of ESBLs genes was investigated. (who.int)
  • 2021). ZmHOX32 , a member of the HD-ZIP III family (that also harbor a START domain that is able to bind to steroid ligands), appears to function in leaf morphogenesis and plant photosynthesis as judged by the enriched category of downstream genes that it regulates (Miao et al. (grassius.org)
  • Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. (nih.gov)
  • It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. (nih.gov)
  • Unlike the amount of methylation of their encoding gene promoters, all these miRNAs were significantly overexpressed following treatment with 5'-AZA. (oncotarget.com)
  • and they are associated with altered histone acetylation and transcription factor (nerve growth factor-induced clone A [NGFIA]) binding to the glucocorticoid receptor promoter. (deepdyve.com)
  • The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. (cancerindex.org)
  • It has histone deacetylase activity and represses transcription when tethered to a promoter. (cancerindex.org)
  • encodes histone H3 K79 methyltransferase Dot1a. (bioskinrevive.com)
  • They bind to structural components (emerin, nesprin), chromatin components (histone), signal transduction molecules (protein kinase C), and several gene regulatory molecules. (medscape.com)
  • Moreover, we have not found such a significant enrichment in the promoter regions of genes that associate with autism spectrum disorder (ASD) or schizophrenia. (biorxiv.org)
  • The interactions between AmtR and the promoter regions of the three operons were confirmed by electrophoretic mobility shift assays (EMSAs). (frontiersin.org)
  • 100.000 cCREs in total), dispersed within the genome and present in cis-regulatory regions of ~81% of human genes, as calculated following gene enrichment analysis. (mdpi.com)
  • Genes specifically expressed in fruit tissues were selected and their isolated promoter regions were fused with the GUSPlus reporter gene for evaluation in transgenic plants. (biomedcentral.com)
  • 2016) [ 10 ] other similar clusters of roo insertions in gene promoter regions are present in the genome. (biomedcentral.com)
  • In addition, based on the analysis of the reference genome, and on the analysis of 177 DGRP strains, we identified 53 promoter regions that could potentially contain multiple roo insertions. (biomedcentral.com)
  • T. ufvareg1 genome also contains 40 promoters on its regulatory regions and two rho-independent terminators. (bvsalud.org)
  • Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. (frontiersin.org)
  • Sporadic cases with a mutation in the EMD gene are uncommon but are becoming increasingly more recognized in LMNA. (medscape.com)
  • A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. (cdc.gov)
  • Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families. (cdc.gov)
  • A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD). (lu.se)
  • 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)
  • Interestingly, ID-associated genes exhibit promoter-localized MER41 LTRs that harbor TF binding sites (TFBSs) for not only STAT1 but also other immune TFs such as, in particular, NFKB1 (Nuclear Factor Kappa B Subunit 1) and STAT3 (Signal Transducer And Activator Of Transcription 3). (biorxiv.org)
  • The protein encoded by P2RY8 gene is composed of 359-amino acids and belongs to the P2Y family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. (atlasgeneticsoncology.org)
  • One of the few antigens against which mammals develop protective immunity is the highly polymorphic OspC protein, encoded by the ospC gene on the cp26 plasmid. (cdc.gov)
  • All the major regulatory elements are located within 100 bp upstream of the gene. (wikipedia.org)
  • All but one of the regulatory elements we isolated are promoters, and are described in brief detail below, with more elaborate information on their parts registry pages. (igem.org)
  • GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies ( Molecular Function , Biological Process , and Cellular Component ), a reference, and an evidence code. (yeastgenome.org)
  • Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
  • Homeobox domain genes are mainly involved in controlling the growth and developmental processes such as transition through phases in an organism by encoding a certain transcription factor. (grassius.org)
  • This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. (genscript.com)
  • The polymorphic genes have subtle effect on cancer risk at individual level but may have a large population impact because the relevant polymorphism may be highly prevalent in a population. (bvsalud.org)
  • Variant of PBX2 gene in the 6p21.3 asthma susceptibility locus is associated with allergic rhinitis in Chinese subjects. (genscript.com)
  • Intragenic recombination among ospC genes is known, but the extent to which recombination extended beyond the ospC locus itself is undefined. (cdc.gov)
  • The HD-ZIP gene family is composed of two functional domains, i.e. (grassius.org)
  • We found that, similar to hsp gene promoters, chromatin accessibility could be one of the factors explaining the recurrent insertions of roo elements in CG18446 promoter region. (biomedcentral.com)
  • We screened 218 strains collected in 15 natural populations, and we found that the CG18446 promoter region contains 20 independent roo insertions. (biomedcentral.com)
  • Based on these population analyses, some genes have also been reported to accumulate many TE insertions, such as the 106.5 kb klarsicht , and the 24 kb derailed-2 that were analyzed in 146 strains of the Drosophila Synthetic Population Resource [ 5 , 6 ]. (biomedcentral.com)
  • However, only 39 strains from two natural populations were screened, and thus it is still an open question whether more roo insertions are present in the CG18446 promoter region. (biomedcentral.com)
  • In this work, we looked for TE insertions in the CG18446 promoter region in 218 strains from 15 natural populations in Europe, North America, and Africa. (biomedcentral.com)
  • Over time, OspC genes were transferred between strains through recombinations involving the whole or parts of the gene and one or both flanks. (cdc.gov)
  • Various products of these genes are enzymes involved in the activation or degradation of carcinogens/pro-carcinogens. (bvsalud.org)
  • This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. (thermofisher.com)
  • The findings from the present study that a SNP of the PBX2 gene in the MHC region (at 6p21.3) was associated with allergic rhinitis (AR) in allele and genotypic analysis suggests a new susceptibility gene for AR in the MHC region and another gene associated with both asthma and AR in Chinese subjects. (genscript.com)
  • The gene is composed of 4 exons and the promoter region contains the regulatory transcription factor binding sites for CREB, POU3F1 and deltaCREB. (atlasgeneticsoncology.org)
  • In this work, we have further analyzed the promoter region of CG18446 . (biomedcentral.com)
  • Moreover, we found that the roo insertional cluster in the CG18446 promoter region is unique: no other promoter region in the genome contains a similar number of roo insertions. (biomedcentral.com)
  • Finally, we performed fecundity and viability experiments to investigate why we did not find any fly containing two roo insertions in the CG18446 promoter region. (biomedcentral.com)
  • An investigation into the MMP1 gene promoter region polymorphism--1607 2G with recessive dystrophic epidermolysis bullosa disease severity in northeastern Mexican patients. (cdc.gov)
  • Sr60 is an exception that encodes a tandem kinase protein 10 . (nature.com)
  • Moreover, they demonstrated that phosphorylated NKCC2 levels rose in tandem with UMOD gene dosage. (medscape.com)
  • The use of tissue-specific promoters is critical for producing transgenic crops with improved economically important tissues, such as the fruits in citrus. (biomedcentral.com)
  • Expressions of heat shock protein (HSP) family HSP 60, 70 and 90alpha in colorectal cancer tissues and their correlations to pathohistological characteristics]. (gzsys.org.cn)
  • Mapping of INS promoter interactions reveals its role in long-range regulation of SYT8 transcription. (nih.gov)
  • May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription. (icr.ac.uk)
  • This gene is regarded as a potential tumor suppressor gene. (cancerindex.org)
  • Survival and gene signature analyses were performed on hepatocellular carcinoma (HCC) data. (preprints.org)
  • Gene ID: 5925, OMIM 614041 ) gene, which encodes a tumor suppressor protein. (molvis.org)
  • This non systematic review summarizes current data available on the role of environment gene interaction in form of GSTM1 null polymorphism and oral carcinogenesis. (bvsalud.org)
  • Relationship between GSTM1 null polymorphism in oral cancer needs to be established to confirm the role of environment gene interaction in oral carcinogenesis. (bvsalud.org)
  • The re-emergence of stem rust on wheat in Europe and Africa is reinforcing the ongoing need for durable resistance gene deployment. (nature.com)
  • The co-location of these genes on a small non-recombinogenic segment simplifies their deployment as a gene stack and potentially enhances their resistance durability. (nature.com)
  • tritici ( Pgt ) races over the past two decades 1 , 2 has motivated global efforts to identify effective stem rust (Sr) resistance genes. (nature.com)
  • Consequently, there is an ongoing need to expand resistance resources and to enhance gene stewardship through co-deployment of multiple resitance (R) genes, rather than single genes, to increase resistance durability. (nature.com)
  • However, as there is no current Pgt race known to be virulent to either resistance gene, it was not possible to unambiguously determine whether the recombinant introgression carried a single or both genes. (nature.com)
  • Gene architecture revealed intron gain/loss events in this resistance gene family during their independent evolution into two families. (ncl.res.in)
  • Further, the findings will provide a strong background to use candidate disease resistance NBS-encoding genes and identify their specific roles in chickpea. (ncl.res.in)
  • This report presents the status of AMR in Africa by analysing the main types of resistance and the underlying genes where possible. (who.int)
  • Phylogenetic analysis points to their diversification into two families namely TIR-NBS-LRR and non-TIR-NBS-LRR. (ncl.res.in)
  • At the molecular level, HD occurs due to an increase in the number of CAG repeats in the first exon of the gene encoding the huntingtin protein. (frontiersin.org)
  • The availability of pearl millet transcriptome and genome data helps to identify genes that contribute to stress tolerance in pearl millet. (biomedcentral.com)
  • Calpain-like mRNAs have been identified in other organisms including bacteria, but the molecules encoded by these mRNAs have not been isolated, so little is known about their properties. (embl.de)
  • The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. (thermofisher.com)
  • The NF-κB and IRF transcription factor families are major players in inflammation and antiviral response and act as two major effectors of the innate immune response (IIR). (biomedcentral.com)
  • We have also cloned the corresponding cDNA frommouse and human and shown this gene to be expressed in a variety oforgans, notably organs of the immune system-i.e., bone marrow and spleen.In addition, purified recombinant murine PGRP was shown to possesspeptidoglycan affinity. (embl-heidelberg.de)