• Pelger-Huët anomaly (PHA) is a benign, dominantly inherited defect of terminal neutrophil differentiation secondary to mutations in the lamin B receptor ( LBR ) gene. (medscape.com)
  • [ 4 ] Co-inherited LBR gene nonsense mutations can also result in lethal hydrops , ectopic calcification, moth-eaten (HEM) skeletal dysplasia/Greenberg skeletal dysplasia, and there continues to be debate as to how PHA and HEM skeletal dysplasia overlap. (medscape.com)
  • Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). (prosci-inc.com)
  • Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)
  • The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)
  • We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3, in two different families. (nih.gov)
  • While genes from the GABAergic pathway have previously been thought to be involved in the pathophysiology of ASD, this is the first report of ASD patients with truncating mutations in GABA receptors genes. (nih.gov)
  • Germinal-center B-cells undergo clonal expansion and activate the process of somatic hypermutation that introduces mutations at a high rate into rearranged immunoglobulin variable genes. (medscape.com)
  • Mutations of the KAL1 gene, which encodes a putative neural cell adhesion molecule (anosmin), have been described in several patients with X-linked Kallmann syndrome. (medscape.com)
  • Loss-of-function mutations of the gene encoding fibroblast growth factor receptor 1 (FGFR1) have been described in patients with autosomal dominant Kallmann syndrome. (medscape.com)
  • [ 2 , 3 ] Heterozygous loss-of-function mutations of the gene encoding FGFR1 have also been described in individuals with idiopathic hypogonadotropic hypogonadism, normal smell sense, and normal MRI of the olfactory system. (medscape.com)
  • Mutations of the gene encoding fibroblast growth factor 8 have been found in a small minority of patients with autosomal dominant Kallmann syndrome. (medscape.com)
  • [ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism, some of whom have features of the CHARGE syndrome (characterized by delayed growth and development, congenital cardiac defects, dysmorphic ears, hearing loss, coloboma of the eyes). (medscape.com)
  • [ 7 ] Homozygous, heterozygous or compound heterozygous mutations of the prokineticin receptor 2 have also been associated with Kallmann syndrome. (medscape.com)
  • Several other mutations associated with Paget disease have been identified, many affecting the RANK (receptor activator of nuclear factor kappa-B) signaling pathway that is critical for osteoclast generation and activity. (msdmanuals.com)
  • [ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • [ 8 ] Digenic inheritance has been suggested in an individual carrying heterozygous mutations of prokineticin receptor 2 and KAL1 . (medscape.com)
  • Mutations of the DAX1 gene, which encodes a nuclear transcription factor, lead to X-linked idiopathic hypogonadotropic hypogonadism associated with adrenal hypoplasia congenita (AHC). (medscape.com)
  • [ 10 ] Mutations of genes encoding either leptin or the leptin receptor underlie isolated cases of autosomally transmitted idiopathic hypogonadotropic hypogonadism associated with early-onset obesity. (medscape.com)
  • [ 11 ] Several loss-of-function mutations of the GnRH receptor gene leading to GnRH resistance and autosomally transmitted hypogonadotropic hypogonadism have been described. (medscape.com)
  • [ 12 ] . In addition, autosomal recessive mutations of the GnRH gene may underlie hypogonadotropic hypogonadism. (medscape.com)
  • Rarely, hypogonadotropic hypogonadism occurs as a result of isolated follicle-stimulating hormone (FSH) deficiency due to homozygous mutations in the FSH beta subunit gene. (medscape.com)
  • Nuclear receptor 4A1 and the rest of the NR4A family are structurally similar to other nuclear receptor superfamily members, but contain an extra intron. (wikipedia.org)
  • This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. (cancerindex.org)
  • The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. (utsouthwestern.edu)
  • Here, using the hemimetabolous insect Blattella germanica , we show that nuclear hormone receptors Seven-up-B (BgSvp-B) and Fushi tarazu-factor 1 (BgFTZ-F1) have essential roles in the tissue- and stage-specific activation of adult CA JH-biosynthetic activity. (nature.com)
  • Western Blot: TR alpha/NR1A1/Thyroid Hormone Receptor alpha Antibody [NBP2-22523] - Analysis of 25 ug of mouse thyroid (lane 1), NIH-3T3 (lane 2) and A431 (lane 3) cell lysates onto an SDS polyacrylamide gel. (novusbio.com)
  • Thyroid Hormone Receptor alpha is encoded by this gene is a nuclear hormone receptor for triiodothyronine. (novusbio.com)
  • It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. (novusbio.com)
  • Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. (novusbio.com)
  • The protein encoded by RORA is a member of the NR1 subfamily of nuclear hormone receptors. (novusbio.com)
  • It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. (novusbio.com)
  • The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene.The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. (novusbio.com)
  • The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. (genetex.com)
  • The Retinoic Acid Receptor-Related Orphan Receptor Gamma (RORγ or RORC) is an intracellular transcription factor that is part of the nuclear hormone receptor family . (stratech.co.uk)
  • The RORs are a unique set of receptors in that they bind as monomers to hormone response elements, as opposed to the majority of other nuclear receptors which bind as dimers. (stratech.co.uk)
  • According to the bimodal switch model, steroid hormone receptors recruit corepressors in the absence of hormone and coactivators in its presence. (sdbonline.org)
  • Contrary to the prevalent model, recruitment of the dMi-2 corepressor increases upon hormone addition to constrain gene activation through chromatin remodelling. (sdbonline.org)
  • This study identifies a non-canonical EcR-corepressor complex with the potential for a direct regulation of ATP-dependent nucleosome remodelling by a nuclear hormone receptor. (sdbonline.org)
  • This study examined the roles of hormone-dependent transcription factors (Nuclear Receptors), in accessory gland development, function and male fertility of a genetically tractable insect model, Drosophila melanogaster. (sdbonline.org)
  • First, an RNAi screen was carried out involving 19 hormone receptors, individually and specifically, in a male reproductive tissue (accessory gland) for their requirement in Drosophila male fertility. (sdbonline.org)
  • Vitamin D is a hormone regulating not only calcium and phosphate homeostasis but also, at the same time, exerting many other extraskeletal functions via genomic effects (gene transcription) and probably by non-genomic effects as well. (karger.com)
  • Nuclear hormone receptor. (nih.gov)
  • Here, effects of changes in methylation status of 5-methyl cytosine in melatonin and female hormone receptor genes were investigated as possible mechanisms for increased breast cancer risk in female night shift workers. (fortunejournals.com)
  • The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. (nih.gov)
  • Thyroid hormone receptor beta (THR-β) , also known as nuclear receptor subfamily 1, group A, member 2 (NR1A2). (immune-system-research.com)
  • In addition, THR-β is a receptor that binds thyroid hormone. (immune-system-research.com)
  • Resmetirom (MGL-3196) is a highly selective thyroid hormone receptor β (THR-β) agonist with an EC 50 value of 0.21 μM. (immune-system-research.com)
  • In one patient, isolated bioinactive luteinizing hormone (LH) was present as a result of a homozygous mutation in the LH beta subunit gene, which prevented binding of LH to its receptor. (medscape.com)
  • The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. (fishersci.com)
  • This gene represents a nuclear retinoic acid receptor. (utsouthwestern.edu)
  • The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. (utsouthwestern.edu)
  • Moreover, THR-β has a transcriptional regulatory function, it can bind DNA and regulate the transcriptional activity of target genes, thereby affecting the growth and differentiation of cells. (immune-system-research.com)
  • It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. (utsouthwestern.edu)
  • The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. (antibodies-online.com)
  • Alternatively spliced transcript variants that encode different isoforms have been described. (antibodies-online.com)
  • Four transcript variants encoding different isoforms have been described for this gene. (novusbio.com)
  • Recent studies have identified the transcriptional coactivator peroxisome proliferator-activated receptor γ coactivator-1 (PGC-1) as a regulator of mitochondrial function in tissues specialized for thermogenesis, such as brown adipose. (jci.org)
  • This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. (antibodies-online.com)
  • in fact, these genes are targets of the transcriptional coactivator and master regulator of transcription of mitochondrial genes peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) 12 . (nature.com)
  • This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. (prosci-inc.com)
  • NR4A1 may play a role in Drug-induced gingival overgrowth associated with exposure to phenytoin, nifedipine, and cyclosporine A. Nuclear receptor 4A1 binds as a monomer or homodimer to response element NBRE and as a homodimer to NurRE. (wikipedia.org)
  • Binds estrogens with an affinity similar to that of ESR1, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560). (nih.gov)
  • Allosteric modulators of sigma-1 receptor (Sig1R) are described as compounds that can increase the activity of some Sig1R ligands that compete with (+)-pentazocine, one of the classic prototypical ligands that binds to the orthosteric Sig1R binding site. (frontiersin.org)
  • This sequence is evolutionarily conserved and binds short regions at its targeting gene 5 ends frequently. (diferencias-entre.org)
  • These results reveal numerous examples where neuron subtype-specific gene expression, as well as splice-isoform usage, can explain functional differences between neuron subtypes, including in presynaptic plasticity, postsynaptic receptor function, and synaptic connectivity specification. (jneurosci.org)
  • The human UBE3A gene encodes an E3 ubiquitin ligase, which exhibits three known protein subtypes ( 1 , 8 ). (spandidos-publications.com)
  • The maximal level of enhancement seen with either CBD or 2-AG were on α2-containing GABAA receptor subtypes, with approximately a 4-fold enhancement of the GABA EC5 evoked current, more than twice the potentiation seen with other α-subunit receptor combinations. (researchgate.net)
  • This up-regulation is due to gene amplification of c-rel and activation of cell-surface receptors such as CD30, CD40, RANK, and Notch1. (medscape.com)
  • Previous analyses of dopaminergic (DAergic) neurons from patients with Lewy-body pathology revealed a deficiency in nuclear-encoded genes for mitochondrial respiration, many of which are targets for the transcription factor estrogen-related receptor gamma ( Esrrg /ERRγ). (nature.com)
  • We demonstrate that deletion of ERRγ from DAergic neurons in adult mice was sufficient to cause a levodopa-responsive PD-like phenotype with reductions in mitochondrial gene expression and number, that partial deficiency of ERRγ hastens synuclein-mediated toxicity, and that ERRγ overexpression reduces inclusion load and delays synuclein-mediated cell loss. (nature.com)
  • While ERRγ deletion did not fully recapitulate the transcriptional alterations observed in postmortem tissue, it caused reductions in genes involved in synaptic and mitochondrial function and autophagy. (nature.com)
  • Further evidence suggests that during PD progression, transcriptional programs for the expression of genes involved in mitochondrial structure and function are disrupted 11 . (nature.com)
  • Laser-captured microdissected (LCM) DAergic neurons from postmortem tissue of patients with Lewy-pathology revealed a deficiency in expression for nuclear-encoded genes involved in mitochondrial respiration and function 12 . (nature.com)
  • Direct regulators of nuclear-encoded mitochondrial genes are members of the estrogen-related receptor (ERR) family, encoded by Esrra , Esrrb and Esrrg . (nature.com)
  • This study focusses on decanoic acid (C10), a component of the medium chain triglyceride KD, and a ligand for the nuclear receptor PPAR-γ known to be involved in mitochondrial biogenesis. (nih.gov)
  • The effects of C10 were investigated in primary fibroblasts from a cohort of patients with Leigh syndrome (LS) caused by nuclear-encoded defects of respiratory chain complex I, using mitochondrial respiratory chain enzyme assays, gene expression microarray, qPCR and flow cytometry. (nih.gov)
  • The proteins are found on mitochondrial, microsomal, and NUCLEAR MEMBRANE sites within many cell types. (bvsalud.org)
  • It is also capable of heterodimerising with COUP-TF (an orphan nuclear receptor) and retinoid X receptor (RXR) in mediating transcription in response to retinoids. (wikipedia.org)
  • Liver, muscle, and intestine tissue samples were taken to measure mRNA expression of key genes involved in glucose, lipid, and protein metabolism. (frontiersin.org)
  • We provide a searchable web resource for exploring differential mRNA expression and splice form usage between excitatory, PV, SST, and VIP neurons ( http://research-pub.gene.com/NeuronSubtypeTranscriptomes ). (jneurosci.org)
  • Ginkgolide B (30-300μmol/L) did not change the mRNA and protein levels of PXR in the cells, but dose-dependently increased nuclear translocation of PXR protein. (greenmedinfo.com)
  • Nevertheless, a recent research uncovered that microRNAs Clofarabine (miRNAs) might be able to regulate gene appearance by specifically concentrating on mRNA 3 untranslated area (3UTR) with causing inhibition of mRNA translation and mRNA degradation [3]. (diferencias-entre.org)
  • Since a person miRNA might control many different mRNAs, plenty of individual miRNAs are suspected of modulating a lot more than one-third from the mRNA types encoded in the complete human genome. (diferencias-entre.org)
  • Multiple alternatively spliced variants, encoding the same protein, have been identified. (wikipedia.org)
  • Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. (cancerindex.org)
  • Alternatively spliced transcript variants encoding distinct isoforms have been reported. (novusbio.com)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (prosci-inc.com)
  • A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. (nih.gov)
  • In this report, we evaluated the impact of these rare missense and silent variants on gene splicing. (nih.gov)
  • Furthermore, missense and silent variants in nuclear RNA export factor 5 and histone deacetylase 6 were shown to partially disrupt the protein. (nih.gov)
  • METHODS: We assessed the prevalence of coding and splice variants in genes on the ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list in the genomes of 57,933 Icelanders. (bvsalud.org)
  • RESULTS: Through manual curation of 4405 sequence variants in the ACMG SF v3.0 genes, we identified 235 actionable genotypes in 53 genes. (bvsalud.org)
  • Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (utsouthwestern.edu)
  • Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. (msdmanuals.com)
  • A second patient had a different homozygous mutation in the LH beta subunit gene that prevented LH heterodimerization and secretion. (medscape.com)
  • PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. (antibodies-online.com)
  • These results suggest that paraspeckles play a role in trapping nuclear PXR in the absence of the ligand to negatively regulate transactivation of its downstream gene. (aspetjournals.org)
  • Overexpression of Nuclear receptor 4A1 inhibits effector T cell differentiation, whereas deletion of NR4A1 overcomes T cell tolerance and exaggerates effector function, as well as enhancing immunity against tumor and chronic virus. (wikipedia.org)
  • The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. (novusbio.com)
  • RORγ is activated by multiple endogenous ligands and controls the expression of genes involved in immune cell differentiation and function. (stratech.co.uk)
  • Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. (prosci-inc.com)
  • Moreover, the participation of miRNAs in lots of physiological processes such as for example cell development, proliferation, apoptosis, differentiation, and receptor-driven pathways [5] could have an effect on the potency of chemotherapy [6]. (diferencias-entre.org)
  • Among the various genetic metabolic disorders, Angelman syndrome (AS) has attracted considerable attention due to the abnormal expression of the ubiquitin-protein ligase E3A (UBE3A) gene ( 1 ). (spandidos-publications.com)
  • Members of this family show sequence homology with estrogen receptors but are incapable of being bound by estrogen. (nature.com)
  • Transcriptional coactivator for steroid receptors and nuclear receptors. (nih.gov)
  • Gene regulation by steroid hormones plays important roles in health and disease. (sdbonline.org)
  • However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. (origene.com)
  • Subsequently, by using independent RNAi/ dominant negative forms, it was shown that Ecdysone Receptor (EcR) is essential for male fertility due to its requirement in the normal development of accessory glands in Drosophila: EcR depleted glands fail to make seminal proteins and have dying cells. (sdbonline.org)
  • Extensive evidence has revealed that the core clock machinery involves "clock genes" and "clock proteins" functioning as molecular cogs. (bioone.org)
  • The blood carries the hormones to target cells that contain specific receptor proteins for the hormones, and which therefore can respond in a specific fashion to them. (50webs.org)
  • Therefore, Sig1R demonstrates properties that can be attributed to both chaperone proteins and receptors. (frontiersin.org)
  • Membrane proteins encoded by the BCL-2 GENES and serving as potent inhibitors of cell death by APOPTOSIS. (bvsalud.org)
  • Overexpression of bcl-2 proteins, due to a translocation of the gene, is associated with follicular lymphoma. (bvsalud.org)
  • In EBV-positive Hodgkin lymphoma, EBV-encoding genes play a role in preventing apoptosis. (medscape.com)
  • Proteínas de la membrana codificadas por los GENES BCL-2 y que sirven como potentes inhibidores de la muerte celular por APOPTOSIS. (bvsalud.org)
  • Stimulation of TLRs (Toll-Like Receptors) by a pathogen induces activation of signal transduction cascades, which leads to translocation of nuclear factor-κB (NF-κB) to the nucleus [ 1 ], activation of interferon regulatory factors 3/7 (IRF3/7) and/or activator protein-1 (AP-1), which cooperate to induce transcription of various cytokines such as alpha/beta interferon (IFN-α/β) to counteract infection [ 2 - 4 ]. (biomedcentral.com)
  • Expression of ALK in malignant T cells is typically due to the t(2;5) translocation resulting in formation of the fusion gene which encodes a 80-kDa hybrid protein that contains portion of the nuclear protein nucleophosmin (NPM) joined to the entire cytoplasmic portion of the receptor tyrosine kinase ALK. (upenn.edu)
  • The production of the ligand for these receptors is responsible for the phosphorylation and translocation to the nucleus of NF-κB. (medscape.com)
  • Some isoforms dominantly inhibit the activity of other estrogen receptor family members. (cancerindex.org)
  • Further, the data point to a novel ecdysone receptor that does not include Ultraspiracle but is probably comprised of EcR isoforms in Drosophila male accessory glands. (sdbonline.org)
  • Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. (genetex.com)
  • Using semi-quantitative reverse-transcription polymerase chain reaction (RT-PCR) and western blots experiments, we compared changes in ETS-1 and ETS-2 expression, their protein levels, and the regulation of some of their target gene expressions at different stages of the ocular tumoral progression in the transgenic mouse model, Tyrp-1-TAg, with those in normal eyes from control mice of the same age. (molvis.org)
  • 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)
  • Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. (nih.gov)
  • Aberrant cell signaling and epigenetic regulation of gene expression in human lymphomas. (upenn.edu)
  • Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. (utsouthwestern.edu)
  • To investigate the correlation between the polymorphism of estrogen receptor β gene (ESR2) rs3020450 and cancer susceptibility, and explore the epidemiological significance and the effect of ESR2 expression levels on the prognosis of ovarian cancer. (cancerindex.org)
  • Methylation in promoter regions of the MTNR1A, MTNR1B, PGR, ESR1 and ESR2 genes was analyzed by pyrosequencing in a nested case-control study of female nurses, including 354 breast cancer cases and 356 healthy controls. (fortunejournals.com)
  • [ 5 , 6 ] The LBR gene product is essential for maintaining nuclear membrane structure, and heterozygotes have at least half of their neutrophils with bilobed, dumbbell-shaped nuclei, also described as pince-nez (ie, looking like pinched-nose spectacles). (medscape.com)
  • Latent membrane protein-1 (LMP-1) expressed in EBV-positive Hodgkin lymphoma RSCs mimics an activated CD40 receptor, activating the antiapoptotic nuclear factor-kappa-B (NF-κB) pathway. (medscape.com)
  • Despite evidence that some endogenous and synthetic cannabinoids interact with GABAA receptors, no-one has yet investigated the effects of CBD. (researchgate.net)
  • Here we used two-electrode voltage clamp electrophysiology to compare the actions of CBD with those of the major central endocannabinoid, 2-arachidonoyl glycerol (2-AG) on human recombinant GABAA receptors (synaptic α1-6βg2 and extrasynaptic α4β2δ) expressed on Xenopus oocytes. (researchgate.net)
  • Taken together these results reveal a mode of action of CBD on specifically configured GABAA receptors that may be relevant to the anticonvulsant and anxiolytic effects of the compound. (researchgate.net)
  • In nearly all these complete situations, activation from the inactivation and proto-oncogene from the tumor suppressor gene have an effect on the advancement and development of epithelial malignancies. (diferencias-entre.org)
  • CBD and 2-AG were positive allosteric modulators at α1-6βγ2 receptors, with low micromolar potencies. (researchgate.net)
  • However, the notion that allosteric modulators of Sig1R are identified is an additional argument for the "receptor" view of Sig1R. (frontiersin.org)
  • Synthetic peptides corresponding to RORA (RAR-related orphan receptor A) The peptide sequence was selected from the N terminal of RORA (P35398-3). (novusbio.com)
  • There are three forms of ROR, ROR-α, -β, and -γ and each is encoded by a separate gene (RORA, RORB, and RORC respectively). (indigobiosciences.com)
  • Here, we show that Nr2f1 and Nr2f2 genes are distinctively expressed in the dorsal and ventral hippocampus, respectively. (elifesciences.org)
  • Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. (cdc.gov)
  • The nuclear receptor 4A1 (NR4A1 for "nuclear receptor subfamily 4 group A member 1") also known as Nur77, TR3, and NGFI-B is a protein that in humans is encoded by the NR4A1 gene. (wikipedia.org)
  • Genome-wide analysis of individuals with PHA from the Gelenau region of Germany was used to identify the affected gene in humans as the LBR gene, located on subband 1q42.1. (medscape.com)
  • Farnesoid X receptor, a nuclear receptor that in humans is encoded by the NR1H4 gene. (findwords.info)
  • Besides, it is a nuclear receptor protein that is encoded by the THRB gene in humans. (immune-system-research.com)
  • ABSTRACT This study aimed to evaluate the association of plasma MIF level and -173 G/C single nucleotide polymorphism of the MIF gene with the occurrence, severity and mortality of sepsis patients. (who.int)
  • Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array. (cdc.gov)
  • Ecdysone-regulated genes are bound by a heterodimer of Ecdysone receptor (EcR) and Ultraspiracle . (sdbonline.org)
  • HL-RSC carry clonal immunoglobulin gene rearrangements, which establishes their clonality and their B cell origin. (medscape.com)
  • 9 ] who proposed that the activation of NF-κB by TRIF-dependent pathway is a result of a secondary response to TNFα, which is induced by IRF3 (this latter activated by the TLR4/TRIF-mediated pathway in the first response to LPS) and signals through the TNFα receptor (TNFR)/RIP1 pathway to activate NF-κB. (biomedcentral.com)
  • We found that cutaneous T-cell lymphoma cells display activation of the interleukin-2 receptor/cytokine common chain-associated Jak/STAT signal transduction pathway that is transient in the early stage of the lymphoma and constitutive in the late stage of the disease progression. (upenn.edu)
  • This study may result in novel therapies for lymphoma based on selective inhibition of the elements of the IL-2R signal transduction pathway(s) which are preferentially utilized by malignant T cells and/or on induction of re-expression of the epigenetically-silenced SHP-1 gene. (upenn.edu)
  • The genes encoding the enzymes involved in both modules are highly enriched, or even exclusively expressed, in the CA cells 9 . (nature.com)
  • Human pregnane X receptor (PXR) is a major nuclear receptor that upregulates the expression of drug-metabolizing enzymes such as CYP3A4. (aspetjournals.org)
  • Pregnane X receptor (PXR) is a nuclear receptor that regulates a number of genes encoding drug metabolism enzymes and transporters and plays a key role in xeno- and endobiotic detoxification. (greenmedinfo.com)
  • INDIGO's RAR-related Orphan Receptor Gamma (RORγ) assay kit is an all-inclusive firefly luciferase reporter assay system that includes, in addition to RORγ Reporter Cells, two optimized media for use during cell culture and (optionally) in diluting the test samples, a reference inverse-agonist, Luciferase Detection Reagent, a cell culture-ready assay plate, and a detailed protocol. (stratech.co.uk)
  • This is an all-inclusive cell-based luciferase reporter assay kit targeting the Mouse RAR-related Orphan Receptor gamma (mRORg). (indigobiosciences.com)
  • In the dipteran Drosophila melanogaster , TGFbeta signaling stimulates JH production by up-regulating the transcription of the JH acid methyltransferase (JHAMT ) gene through the transcription factor Mothers against Dpp (Mad) 14 . (nature.com)
  • This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. (prosci-inc.com)
  • Exploration of extrasynaptic α4β2δ receptors revealed that both compounds enhanced GABA EC5 evoked currents at concentrations ranging from 0.01-1 μM. (researchgate.net)
  • Under this project my lab investigates the role of signals mediated through receptor for interleukin-2 (IL-2R) and functionally related cytokine receptors in malignant transformation of T lymphocytes. (upenn.edu)
  • These findings agree with recent experimental data reporting crosstalk between pathways activated by RIG-I and TLR3 receptors in response to pathogens. (biomedcentral.com)
  • 1. Role of the cytokine-signal transduction pathways and epigenetic gene silencing in pathogenesis of T-cell lymphoma. (upenn.edu)