Receptor gene. Medical search. Frequent questions

The extent of this polymorphism of the alpha oestrogen receptor gene is associated with the. (the-scientist.com)
Vitamin D receptor (VDR) gene polymorphism is considered to be an important cause of cancer development. (hindawi.com)
This review summarizes findings on the associations between OXT and AVP receptor polymorphism, social behavior, and psychiatric diseases. (frontiersin.org)
Peripheral blood samples were obtained for DNA extraction and analysis of this polymorphism in intron 1 and promoter [XbaI, PvuII and (GT) n)] of the ERalfa gene region. (usp.br)
Dopamine receptor D2 gene polymorphism, urine fluoride, and intelligence impairment of children in China: A school-based cross-sectional study. (fluoridealert.org)
Functional Polymorphism in the ADRB3 Gene, Encoding the Beta-3 Adrenergic Receptor, and Response to Intra-Detrusor Injection of Botulinum Toxin-A in Women with Overactive Bladder. (urotoday.com)
There are reports suggesting an association between the rs4994 polymorphism in the ADRB3 gene encoding the beta-3 adrenergic receptor and OAB risk in females. (urotoday.com)
The aim of this study was to investigate the effect of the µ-opioid receptor gene (OPRM1) A118G polymorphism on the requirement for post-operative fentanyl analgesia in patients undergoing radical gastrectomy. (spandidos-publications.com)
The FP receptor genetic polymorphism may influence the degree of IOP reduction by latanoprost in these patients. (bmj.com)

Targeting viral vector particles to predetermined cell types will be obtained through genetic engineering of retroviral envelopes or adenoviral capsid proteins, by using single chain antibody fragments or tumour cell receptor ligands. (europa.eu)
Rearrangement of the genes for the beta and gamma chains of the T cell receptor is rarely observed in adult B cell lymphoma and chronic lymphocytic leukemia. (jci.org)
We determined the configuration of the genes for the beta (T beta) and gamma (T gamma) chains of the T cell receptor in DNA from 100 consecutive cases of B cell lymphoma and B cell chronic lymphocytic leukemia (B-CLL), and compared the findings with those in 18 T cell neoplasms. (jci.org)
We conclude that ordered rearrangement of the T cell receptor is a rare event in B cell lymphoma and B-CLL. (jci.org)
T cell receptor gene studies allow B and T cell lymphomas to be distinguished from each other and from common acute lymphoblastic leukemia antigen-positive non-T, non-B acute lymphoblastic leukemia. (jci.org)
The gene structure and expression of the non-specific cytotoxic cell receptor protein (NCCRP-1) in Atlantic cod (Gadus morhua L. (nofima.no)
Configuration and expression of the T cell receptor beta chain gene in human T-lymphotrophic virus I-infected cells. (rupress.org)
We studied the configuration and expression of the gene encoding the beta chain of the T cell receptor (TCR beta) in cell lines and primary tumor cells infected by the human T cell leukemia/lymphoma (lymphotrophic) virus type I (HTLV-I). Most of the cell lines and all the primary tumor cells showed rearrangement of the TCR beta gene, and in each case the rearrangement was distinct. (rupress.org)
How does tumour necrosis factor uncouple T-cell receptor-induced IL-2 gene expression in murine T cells? (biomedcentral.com)
T-cell receptor (TCR)-induced IL-2 expression is suppressed at the level of mRNA and protein following chronic culture of T cells with tumour necrosis factor (TNF) at picomolar concentrations, an effect that is reversible upon removal of TNF. (biomedcentral.com)
Clark JM, Annenkov AE, Panesar M, Isomäki P, Chernajovsky Y, Cope AP: T cell receptor zeta reconstitution fails to restore responses of T cells rendered hyporesponsive by tumor necrosis factor alpha. (biomedcentral.com)

The protein encoded by this gene is an orphan G protein-coupled receptor whose ligand is unknown. (nih.gov)
VDR belongs to the nuclear receptor family with a typical nuclear receptor domain, including DNA-binding domain, a hinge region, a ligand-binding domain, and a carboxy-terminal activation function 2 domain that interacts with coregulators [ 10 ]. (hindawi.com)
We characterized a novel LXR response element within the second intron of this gene that is able to confer LXR-specific ligand responsiveness to reporter gene in both HepG2 and human embryonic kidney 293 cells. (aspetjournals.org)
On the basis of their joint roles in ligand binding, signal transduction , and receptor trafficking, we conclude that Ihog and Ptc together constitute the Drosophila Hh receptor. (bvsalud.org)

There are seven members of the LDLR family in mammals, namely: LDLR VLDL receptor (VLDLR) ApoER2, or LRP8 Low density lipoprotein receptor-related protein 4 also known as multiple epidermal growth factor (EGF) repeat-containing protein (MEGF7) LDLR-related protein 1 LDLR-related protein 1b Megalin. (wikipedia.org)
Soluble low-density lipoprotein receptor-related protein (sLRP) - impaired function is related to Alzheimer's disease. (wikipedia.org)
The product of this gene belongs to the family of G-protein coupled receptors. (nih.gov)
The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. (nih.gov)
G-protein-coupled receptor GPR161 is overexpressed in breast cancer and is a promoter of cell proliferation and invasion. (nih.gov)
The structural basis of G-protein-coupled receptor function and dysfunction in human diseases. (nih.gov)
False positive non-synonymous polymorphisms of G-protein coupled receptor genes. (nih.gov)
G-protein-coupled receptor signaling and neural tube closure defects. (nih.gov)
The analysis of CGRP release data was combined with immunohistochemistry in order to study the cellular localization of CB1, cannabinoid receptor type 2 (CB2), CGRP and receptor activity modifying protein 1 (RAMP1), a subunit of the functional CGRP receptor, in the TG. (lu.se)
This was related to an increased DNMT3a protein association with a discreet region of the Nr3c1 (GR gene) promoter, shown here to undergo increased DNA methylation after FSS. (karger.com)
TLR1-GFP fusion gene was generated by fusing the green fluorescent protein (GFP) gene to the C terminus of human Toll-like receptor 1 (TLR1) gene. (invivogen.com)
The human mu-opioid receptor gene (OPRM1) encodes the μ -opioid receptor protein, which is the main target of the analgesic, fentanyl. (spandidos-publications.com)
The receptors for these peptides are unusual, comprising a G-protein-coupled receptor (GPCR) with receptor activity-modifying proteins (RAMPs). (coventry.ac.uk)
LPS binds to the cell-surface receptor, Toll-like receptor 4 (TLR4), which initiates a signal transduction cascade, including recruitment of the Toll-interleukin 1 receptor domain-containing adaptor protein (TIRAP). (aspetjournals.org)
The effects of 13-cis retinoic acid (RA) and dexamethasone on the levels of epidermal growth factor (EGF) receptor and fibroblast derived proteoglycan core protein (PG40) mRNAs were studied in human skin fibroblasts. (medicaljournals.se)
This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. (medlineplus.gov)
Although the transporter-like protein Patched (Ptc) is genetically implicated in reception of the extracellular Hedgehog (Hh) protein signal, a clear definition of the Hh receptor is complicated by the existence of additional Hh- binding proteins and, in Drosophila , by the lack of physical evidence for direct binding of Hh to Ptc. (bvsalud.org)

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)
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)
In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
Expression of the platelet-derived growth factor alpha receptor (PDGF alpha R) is strictly regulated during mammalian development and tumorigenesis. (nih.gov)
The molecular mechanisms involved in the specific regulation of PDGF alpha R expression are unknown, but transcriptional regulation of the PDGF alpha R gene is most likely to be involved. (nih.gov)
This 5' flanking region is a functional promoter of the PDGF alpha R gene as concluded from its capacity to drive luciferase reporter gene expression in an orientation dependent way. (nih.gov)
The glucocorticoid receptor (GR) is essential for the correct functioning of the HPA axis, thus alterations in the expression of the GR through altered methylation of the GR gene ( NR3C1 ) (and more specifically exon 1F) might contribute to the development of NSSI in individuals with a history of ACEs, as has been reported for different other mental disorders. (karger.com)
Although glucocorticoid receptors (GRs) in the hippocampus play a vital role in the regulation of physiological and behavioural responses to stress, the regulation of receptor expression remains unclear. (karger.com)
In mammals, the sense of odors relies on the peculiar expression pattern of olfactory receptors (ORs). (harvard.edu)
The dorsal hippocampus, which connects and shares similar gene expression with the neocortex ( Fanselow and Dong, 2010 ), serves the 'cold' cognitive function associated with declarative memory and spatial navigation. (elifesciences.org)
Seladin-1 was originally identified as a gene whose expression was down-regulated in regions of the brain associated with Alzheimer's disease. (aspetjournals.org)
Furthermore, we found that Seladin-1/DHCR24 gene expression is significantly decreased in skin isolated from LXRβ-null mice. (aspetjournals.org)
To investigate the molecular mechanisms regulating sst2 gene expression, we cloned the upstream region (9.5 kb) from the translation initiation codon of the rat sst2 gene. (eurekamag.com)
These studies demonstrated the nature of the rat sst2 gene and the functional importance of both Sp1 and CRE sites in regulating sst2 gene expression and suggest that the CRE site mediates, at least partly, the promoter activity activated by Pitx1 or estrogen. (eurekamag.com)
However, the role of TLR4 and TIRAP in LPS-mediated regulation of hepatic DME gene expression is not known. (aspetjournals.org)
This shows that although TIRAP mediates inflammatory responses induced by LPS, it is not essential in regulating LPS-mediated alterations of gene expression in liver. (aspetjournals.org)
Levels of expression of the TCR beta gene at the mRNA level and surface expression of the T3 complex were also not significantly altered, suggesting that changes in immune function cannot be attributed to quantitative changes in the TCR molecule. (rupress.org)
These results provide evidence that regulation of the octopamine receptor gene influences social grouping in D. arcuata , and that specifically, a decrease in octopamine receptor expression triggers the larval transition from social to solitary. (biomedcentral.com)
Second, a transcriptomic comparison between social and solitary phenotypes of D. arcuata showed differential expression of a number of genes associated with sociality in other organisms [ 7 ]. (biomedcentral.com)
In this study we test the hypothesis that a decrease in octopamine receptor expression triggers the larval transition from social to solitary. (biomedcentral.com)
We also investigated whether the neuromodulatory effects of THC are related to the local expression of its key molecular target, cannabinoid-type-1 (CB1R) but not type-2 (CB2R) receptor. (kcl.ac.uk)
We also investigated whether the neuromodulatory effects of THC are related to the local expression of its key molecular target, cannabinoid-type-1 (CB1R) but not type-2 (CB2R) receptor.MethodsA systematic search was conducted of acute THC-challenge studies using fMRI, PET, and arterial spin labelling in accordance with established guidelines. (kcl.ac.uk)
Scholars@Duke publication: ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression. (duke.edu)
Therefore, the human microvascular endothelial cell line HMEC-1 was infected with a recombinant constitutively active ALK1 adenovirus, and gene expression was studied by using gene arrays and quantitative real-time PCR analysis. (duke.edu)
Analysing ALK1 regulated gene expression after 4 hours revealed 13 genes to be up- and 2 to be down-regulated. (duke.edu)
Evaluation of ALK1 regulated gene expression in different human endothelial cell types was not in complete agreement. (duke.edu)
Further on, disparity between constitutively active ALK1 and TGF-beta1 induced gene expression in HMEC-1 cells and primary HUVECs was observed. (duke.edu)
To investigate the phenotype associated with estrogen receptor alpha (ER) expression in breast carcinoma, gene expression profiles of 58 node-negative breast carcinomas discordant for ER status were determined using DNA microarray technology. (lu.se)
By reference to the serial analysis of gene expression database, we found that only a small proportion of the 100 most important ER discriminator genes were also regulated by estradiol in MCF-7 cells. (lu.se)
The results provide evidence that ER+ and ER- tumors display remarkably different gene-expression phenotypes not solely explained by differences in estrogen responsiveness. (lu.se)
1994. Ah receptor in embryonic mouse palate and effects of TCDD on receptor expression. (cdc.gov)
We compared the power of gene expression measurements with that of conventional prognostic markers, i.e., clinical, histo- pathological, and cell biological parameters, for predicting distant metastases in breast cancer patients using both established prognostic indices (e.g., the Nottingham Prognostic Index (NPI)) and novel combinations of conventional markers. (lu.se)
The gene expression profiler did not perform noticeably better than indices con- structed from the clinical variables, e.g., the well established NPI. (lu.se)
In recent exploratory regional therapy alone or by the addition of systemical studies, markers from microarray gene expression medical therapy with increased side effects and costs. (lu.se)
These gene expression results have into different risk group in order to help in making been compared with data obtained from using conven- treatment decisions. (lu.se)
Although these comparisons favoured the gene expression markers, this was usually in comparison against single factors and the new tech- q Sources of support: Swedish Research Council, Swedish Founda- nology has not been tested against a combined index, tion for Strategic Research, Lund University Medical Faculty and the such as the Nottingham Prognostic Index (NPI). (lu.se)

Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. (medlineplus.gov)
People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. (medlineplus.gov)
Leptin receptor deficiency is a rare cause of obesity. (medlineplus.gov)
Leptin receptor deficiency is caused by mutations in the LEPR gene. (medlineplus.gov)
LEPR gene mutations that cause leptin receptor deficiency prevent the receptor from responding to leptin, leading to the excessive hunger and weight gain associated with this disorder. (medlineplus.gov)
Because hypogonadotropic hypogonadism occurs in leptin receptor deficiency, researchers suggest that leptin receptor signaling is also involved in regulating the body's response to hormones that control sexual development, and that this response is affected by LEPR gene mutations. (medlineplus.gov)

The aim of the present study was to examine the effect of the synthetic endocannabinoid (eCB) analogue, arachidonyl-2′-chloroethylamide (ACEA), on calcitonin gene-related peptide (CGRP) release in the dura and trigeminal ganglion (TG), as cannabinoids are known to activate G i/o -coupled cannabinoid receptors type 1 (CB1), resulting in neuronal inhibition. (lu.se)
The development and optimisation of an HPLC-based in vitro serum stability assay for a calcitonin gene-related peptide receptor antagonist peptide. (iasp-pain.org)
Here, we describe the optimisation and validation of a method for the evaluation of the stability of a lead calcitonin gene-related peptide antagonist peptide (P006) in blood serum. (iasp-pain.org)
Calcitonin gene-related peptide (CGRP), adrenomedullin (AM) and adrenomedullin 2 (AM2) are related peptides, which are potent vasodilators. (coventry.ac.uk)

Long time readers will be familiar with the large literature in behavior genetics/genomics and dopamine receptor genes. (discovermagazine.com)
The human dopamine receptor D4 (DRD4) gene contains a 48-bp variable number of tandem repeat (VNTR) in exon 3, encoding the third intracellular loop of this dopamine receptor. (discovermagazine.com)
We aimed to study the association of urine fluoride with intelligence quotient (IQ) in children with a careful consideration of up to 30 potential confounding factors as well as possible heterogeneity of the relation between urine fluoride levels and IQ scores across children with different dopamine receptor-2 (DRD2) Taq 1A genotypes (CC, CT, and TT). (fluoridealert.org)

Role of presynaptic nicotinic acetylcholine receptors in the regulation of gastrointestinal motility. (nature.com)
14 ). It is important to identify the transcription factors involved in regulation of these genes to reveal potential avenues for modulating transcriptional programs that could be dysfunctional in PD. (nature.com)
Portions of this work were in Regulation of Drug Metabolizing Enzymes in Inflammation: Role of the Toll-Like Receptor 4 Signaling Pathway (R. Ghose, D. White, J. Vallejo, and S. J. Karpen), which was presented at Experimental Biology 2007 in Washington, DC, April 28-May 2, 2007. (aspetjournals.org)
The EGF receptor is involved in the regulation of cellular proliferation and the synthesis of matrix proteins, and proteoglycan 40 is important for cell attachment and interaction with collagen and fibronectin. (medicaljournals.se)

Kunnas and colleagues studied a dinucleotide repeat of the alpha oestrogen receptor gene in 119 Finnish men who died suddenly. (the-scientist.com)
When analysing separately subgroups, according to the oestrogen receptor (ER) status both approaches could predict clinical outcome more easily for the ER-positive than for the ER-negative cohort. (lu.se)

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)
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)

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)

Members of this family show sequence homology with estrogen receptors but are incapable of being bound by estrogen. (nature.com)
Epidemiological evidences show that the variations in genes that regulate the biosynthesis and metabolism of estrogen receptors (ER) cause changes in the effect of estrogen in breast tissue, which may explain individual variations of the mammographic density. (usp.br)

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 is an important study demonstrating distinct roles for the nuclear receptor genes COUP-TFI and COUP-TFII in hippocampal development. (elifesciences.org)
The nuclear hormone receptors liver X receptor α (LXRα) and LXRβ function as physiological receptors for oxidized cholesterol metabolites (oxysterols) and regulate several aspects of cholesterol and lipid metabolism. (aspetjournals.org)

This study evaluated association between common and rare sequence variants in 10 nicotinic acetylcholine receptor subunit genes and the severity of nausea 21 days after initiating the standard, Food and Drug Administration-approved varenicline regimen for smoking cessation. (nature.com)
Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine. (nature.com)
Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation. (nature.com)

CDC is aware of three mpox virus (MPXV) cases in California in which preliminary data show a significant deletion in the tumor necrosis factor (TNF) receptor gene. (cdc.gov)

FSS did not affect GR binding to a putative negative glucocorticoid response element within the Nr3c1 gene. (karger.com)
Single-nucleotide polymorphisms (SNPs) in the glucocorticoid receptor (GR) gene influence the sensitivity to glucocorticoids and are related to both microbial colonization and susceptibility to develop auto-immune disease. (eur.nl)

This mutation leads to the conversion of the amino acid asparagine to aspartate at position 40 (N40D) on the extracellular N-terminal domain, which affects a putative glycosylation site of the receptor ( 5 ). (spandidos-publications.com)
The patient was homozygous for a point mutation in exon 2 of the insulin receptor gene which results in the substitution of methionine for isoleucine at codon 119. (bmj.com)
Thus, the mutant allele encodes a receptor that has a mutation in the putative insulin binding domain. (bmj.com)
Met mutation in the insulin receptor gene, and are clinically affected with varying degrees of severity. (bmj.com)

CGRP release was induced by either 60 mM K + (for depolarization-induced stimulation) or 100 nM capsaicin (for transient receptor potential vanilloid 1 (TRPV1) -induced stimulation) and measured using an enzyme-linked immunosorbent assay. (lu.se)
The GPCR, the calcitonin receptor-like receptor (CLR), forms a CGRP receptor with RAMP1, (the CGRPR), whereas CLR with RAMP2 or RAMP3 forms two subtypes of adrenomedullin receptor (AM1 and AM2 receptors). (coventry.ac.uk)
CGRP is also a potent agonist at the AMY1(a) receptor, a heterodimer between the calcitonin receptor (CTR) and RAMP1. (coventry.ac.uk)

At this point, the TNF receptor gene deletion is rare. (cdc.gov)
Molecular laboratory developed tests (LDTs) designed using the CDC published primers and probes that specifically target mpox virus did NOT detect the virus because of the TNF receptor gene deletion in these specimens. (cdc.gov)
Public health laboratories and select commercial laboratories use the CDC FDA cleared NVO test, which can correctly identify Orthopoxvirus when the TNF gene deletion occurs. (cdc.gov)
CDC will update the published primer and probe sequence information to alert test developers of this TNF receptor gene deletion. (cdc.gov)
In contrast, T cell specimens usually rearranged both alleles of T beta (15 of 18), the rearrangement could be confirmed with a second restriction enzyme (17 of 18), both alleles of the first constant region gene segment of T beta always underwent either rearrangement or deletion, and the T gamma gene was also rearranged or deleted (17 of 18). (jci.org)
The deletion of both Nr2f genes causes almost agenesis of the hippocampus with abnormalities of trisynaptic circuit and adult neurogenesis. (elifesciences.org)

This article covers the pharmacology of these receptors, their structure, distribution, and potential involvement in disease. (coventry.ac.uk)

In addition, the morphogen retinoic acid, alone or in combination with dibutyryl cAMP, gives a 22-fold induction of PDGF alpha R gene promoter activity in human teratocarcinoma cells. (nih.gov)
The TLR1-GFP fusion gene is cloned in the pUNO plasmid under the control of the strong and ubiquitous mammalian promoter EF1α/HTLV. (invivogen.com)
GFP fusion gene is under the control of the strong and ubiquitous hEF1/HTLV promoter. (invivogen.com)
Estrogen also increased the promoter activity of -77/+172/luc in GH(3) cells or in HeLa cells overexpressing both the estrogen receptor and c-Jun. (eurekamag.com)
Rao S, Procko E, Shannon MF: Chromatin remodeling, measured by a novel real-time polymerase chain reaction assay, across the proximal promoter region of the IL-2 gene. (biomedcentral.com)
Rao S, Gerondakis S, Woltring D, Shannon MF: c-Rel is required for chromatin remodeling across the IL-2 gene promoter. (biomedcentral.com)

This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. (nih.gov)

Genome-wide association studies focused on asthma risk genes have identified a variation in the interleukin-6 receptor ( IL6R ) and alterations at another site on chromosome 11q13.5 near the leucine-rich repeat containing 32 genes ( LRRC32 , also known as GARP ). (genengnews.com)
These were rs4129267 sited in the IL6R gene, and rs7130588 on chromosome 11q13. (genengnews.com)
The VDR gene is located on chromosome 12q12-14, which contains two promoters and 8 exons [ 11 ]. (hindawi.com)

The major strengths of the study are the dramatic morphogenic phenotypes, and the resultant altered gene networks. (elifesciences.org)

Surprisingly, the proliferation rate of the fibroblasts was increased in the presence of dexamethasone under conditions similar to those which caused slight decrease in the EGF receptor mRNA levels. (medicaljournals.se)
Cell lines infected by HTLV-I express levels of TCR beta mRNA similar to PHA stimulated lymphocytes, suggesting that this gene is not transcriptionally activated as a result of infection by HTLV-I. Cloned T cells of known antigen specificity that are infected by HTLV-I in vitro show impairment of immune function, including loss of antigen-specific responsiveness and the acquisition of alloreactivity. (rupress.org)

The authors state there are multiple lines of animal model and clinical evidence suggesting that IL6R is the causal gene underlying their observed association with rs4129267: previous studies have shown rs4129267 is strongly associated with variation in serum concentrations of the soluble form of the IL-6 receptor (sIL-6R), and both serum and airway concentrations of sIL-6R are increased in asthma patients. (genengnews.com)
Objective: Evaluating the association of clinical characteristics and polymorphisms of the gene ERalfa [XbaI, PvuII and (GT)n] and mammographic density in postmenopausal women. (usp.br)
Ongoing anti-cancer gene therapy clinical trials have highlighted the need for more efficient and safer vectors. (europa.eu)
This proposal brings together European leaders with expertise covering from the development of novel viral vectors to the implementation of clinical trials of gene therapy. (europa.eu)
We thus aim to obtain well characterized, safe, and efficient gene therapy vectors, as well as pre-clinical data supporting the further testing of such vectors in clinical trials. (europa.eu)
In spite of a homozygous abnormality of the insulin receptor gene and many of the clinical features of severe insulin resistance, the proband's clinical syndrome was noticeably different from previously described patients with leprechaunism who usually die within the first six months of life. (bmj.com)

Given that no specific gene in this region has been directly implicated in allergic disease previously, further characterization of this region of association is likely to discover novel molecular mechanisms involved in the causality of eczema, atopy, and asthma. (genengnews.com)
This study describes the molecular cloning of the non-coding exon 1 and approximately 2 kb of 5' flanking region of the human PDGF alpha R gene. (nih.gov)
The goal of our search was to identify publications describing the role of specific genes, gene signatures, or molecular pathways and their effects in response to environmental exposures. (cdc.gov)

Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. (nih.gov)

To test the hypothesis that gene-gene interaction of the renin-angiotensin system is associated with an effect on the extent of coronary atherosclerosis. (bmj.com)
Patients carrying the D allele of the angiotensin I converting enzyme (ACE) gene had greater coronary extent scores (defined as the number of coronary segments with 5% to 75% stenosis) than those not carrying this allele (p = 0.006 in non-parametric analysis and p = 0.019 in parametric analysis). (bmj.com)
There was a significant interaction (p = 0.033) between genotypes of ACE and angiotensin II type 1 receptor (AGTR1). (bmj.com)

Recent evidence indicates that the members of the LDL receptor gene family are active in the cell signalling pathways between specialized cells in many, if not all, multicellular organisms. (wikipedia.org)
This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. (nih.gov)

Introduction: The hormone receptors modulate the tissue response to hormonal stimulation. (usp.br)

The four SNP are located in different regions of the VDR gene and are potentially linked to many diseases [ 11 , 12 ]. (hindawi.com)
Although a large body of research, ranging from rodents to humans, has reported on the effects of OXT and AVP administration on affiliative and trust behaviors, and has highlighted the genetic contributions of OXT and AVP receptor polymorphisms to both social behaviors and to diseases related to social deficits, the consequences of peptide administration on psychiatric symptoms, and the impact of receptor polymorphisms on receptor function, are still unclear. (frontiersin.org)

The purinergic receptor P2Y11 choreographs the polarization, mitochondrial metabolism, and migration of T lymphocytes. (nih.gov)

2002). Cutting edge: role of Toll-like receptor 1 in mediating immune response to microbial lipoproteins. (invivogen.com)

a transmembrane domain, and the cytoplasmic region with (a) signal(s) for receptor internalization via coated pits, containing the consensus tetrapeptide Asn-Pro-Xaa-Tyr (NPxY). (wikipedia.org)

Numerous single nucleotide polymorphisms (SNPs) have been identified in the OPRM1 gene [ http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=4988 ]. (spandidos-publications.com)
Aim To examine whether intraocular pressure (IOP) reduction by latanoprost correlates with single nucleotide polymorphisms (SNPs) of the prostaglandin F2α (FP) receptor gene in patients with glaucoma and ocular hypertension (OH). (bmj.com)

The P2Y(11) receptor of human M2 macrophages activates canonical and IL-1 receptor signaling to translate the extracellular danger signal ATP into anti-inflammatory and pro-angiogenic responses. (nih.gov)
However, when we applied this approach to published sequence data on SLC45A2, another human pigmentation candidate gene, we could readily confirm evidence for positive selection, as previously detected with sequence-based and some haplotype-based tests. (discovermagazine.com)
GFP fusion gene was generated by fusing at the C terminus of the human TLR1 gene to a GFP variant. (invivogen.com)
Explore the normal functions of human genes and the health implications of genetic changes. (medlineplus.gov)

Structure of the LDL receptor extracellular domain at endosomal pH" (PDF). (wikipedia.org)

In addition to these domains which can be found in all receptors of the gene family, LDL receptor and certain isoforms of ApoER2 and VLDLR contain a short region which can undergo O-linked glycosylation, known as O-linked sugar domain. (wikipedia.org)
Isoforms of the octopamine receptor gene were previously found to be upregulated in socially grouping early instars of D. arcuata relative to solitary late instars [ 7 ]. (biomedcentral.com)
After aligning the octopamine gene isoforms using Clustal Omega ( https://www.ebi.ac.uk/Tools/msa/clustalo/ ), conserved regions were used for siRNA design using Dharmacon's siDESIGN tool ( https://horizondiscovery.com/en/products/tools/siDESIGN-Center ). (biomedcentral.com)

In humans, excess cholesterol in the blood is captured by low-density lipoprotein (LDL) and removed by the liver via endocytosis of the LDL receptor. (wikipedia.org)

These findings suggest that variation in the ACE and AGTR1 genes and their interaction may not only contribute to susceptibility of coronary artery disease as previously found but also modify the disease process, thus contributing to interindividual differences in severity of the disease. (bmj.com)

Accordingly, the mutant receptor would be predicted not to transduce the insulin signal effectively. (bmj.com)

In this study, we genotyped 318 GBS patients and 210 control subjects for five known SNPs in the GR gene. (eur.nl)
Methods The genotype of nine SNPs in the FP receptor gene was determined by direct DNA sequencing, or other techniques, in 82 patients with glaucoma or OH who were treated with latanoprost monotherapy in one eye. (bmj.com)
The correlation between %ΔIOP and SNPs in the FP receptor gene was analysed. (bmj.com)
Conclusions An association was found between SNPs of the FP receptor gene and the response to latanoprost in patients with glaucoma or OH. (bmj.com)
The samples were genotyped for 7 SNPs from genes thought to be involved in chronic obstructive pulmonary disease (COPD) or asthma, based on prior studies. (cdc.gov)

NEW YORK, July 31 (Praxis Press) Accumulating evidence suggests that oestrogen protects against cardiovascular disease, and oestrogen receptors have been localized to several cell types implicated in the pathogenesis of this disease. (the-scientist.com)
To explore work on gene-environment interaction (GxE) at the Centers for Disease Control and Prevention (CDC) and the Agency for Toxic Substances and Disease Registry (ATSDR), we examined the CDC-Authored Genomics and Precision Health Publications Database (CDC-Authored GPHPD) , which includes articles published by CDC/ATSDR authors since 2011. (cdc.gov)
More than half (23 of 39) of the articles represent epidemiologic studies including candidate gene and genome-wide association studies (GWAS) examining genetic effect modification on disease risk. (cdc.gov)

The leptin receptor is turned on (activated) by a hormone called leptin that attaches (binds) to the receptor, fitting into it like a key into a lock. (medlineplus.gov)

Varenicline is a partial agonist at alpha4beta2 and a full agonist at alpha7 neuronal nicotinic receptors. (nature.com)
coupled cannabinoid receptors type 1 (CB1), resulting in neuronal inhibition. (lu.se)

No direct ligands have been identified so far for Toll-like receptor 1 (TLR1) which seems to act as a coreceptor for TLR2. (invivogen.com)

Men with more repeats within the regulatory region of the gene on both alleles had a significantly greater number of severely narrowed coronary arteries ( P = 0.009), larger areas of complicated lesions ( P = 0.008), and more calcifications of the coronary arteries ( P = 0.01) than men who had fewer repeats. (the-scientist.com)

Deriving gene-opioid associations from data sampled from patients with cancer pain is difficult since the mechanism, severity and nature of cancer pain differs substantially from patient to patient ( 10 ). (spandidos-publications.com)

It plays various roles in the body by binding to vitamin D receptors (VDR) [ 8 ]. (hindawi.com)

All vectors will express a reporter/suicide gene, and they will be tested using in vivo models of liver and brain tumours. (europa.eu)
Surprisingly, LPS had the same effect on cytokines, kinases, NRs, and DME genes in livers of both TIRAP +/+ and TIRAP -/- mice, indicating that TIRAP is not essential for TLR4-mediated suppression of NRs and DMEs in liver. (aspetjournals.org)

The strength of evidence is compelling , using rigorous state-of-the-art methods to demonstrate functional redundancy of these genes in regulating the Lhx2/Lhx5 axis. (elifesciences.org)
METHODS: The identification of ALK1 and not ALK5 regulated genes in endothelial cells, might help to better understand the development of HHT. (duke.edu)

Anatomy19

Organisms7

Diseases10

Chemicals and Drugs109

Analytical, Diagnostic and Therapeutic Techniques and Equipment21

Psychiatry and Psychology2

Phenomena and Processes91

Disciplines and Occupations1

Information Science4

Named Groups2

Health Care2

Geographicals1

Polymorphism9

Cell receptor11

Ligand4

Protein17

Expression37

Leptin receptor deficiency6

Calcitonin gene-re4

Dopamine3

Regulation4

Oestrogen receptor2

Transcriptional2

Deficiency1

Estrogen receptors2

Nuclear3

Subunit3

Tumor necros1

Glucocorticoid2

Mutation4

CGRP3

Deletion6

Pharmacology1

Promoter6

Subtypes1

Chromosome3

Phenotypes1

MRNA2

Clinical6

Molecular3

Fibroblast1

Angiotensin3

Pathways2

Modulate1

Diseases2

Mitochondrial1

20021

Cytoplasmic1

Single nucleotide po2

Human4

Extracellular1

Isoforms3

Humans1

Variation1

Signal1

SNPs5

Disease3

Hormone1

Neuronal2

Ligands1

Regulatory1

Severity1

Roles1

Liver2

Methods2