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The two genetic variants were found to have potential risk in association with active disease development among Sudanese patients.
Impaired IFNgamma-Signaling and Mycobacterial Clearance in IFNgammaR1-Deficient Human iPSC-Derived Macrophages.
discovered that a rare variant c.G40A in interferon gamma receptor 1 potentially contributes to the myasthenia gravis pathogenesis
Positive reaction in interferon-gamma release tests is not associated with IFNGR1 SNPs.
All known mutations, as well as 287 other variations, have been deposited in the online IFNGR1 variation database . In this article, we review the function of IFN-gammaR1 and molecular genetics of human IFNGR1.
cellular kinase, casein kinase 1alpha (CK1alpha), is crucial for IAV HA-induced degradation of both IFNGR1 and IFNAR1.
the cause of active TB in the patients seems to be due to the lack of effective IFNgamma function or the lack of effective signaling connection between IFNgamma and its receptor in presence of -56 C/T polymorphism in promoter region of IFNgammaR1 gene
results showed a significant correlation between IFNGR1- T-56CSNP and Nontuberculous mycobacteria infection among studied populations
Data suggest IFNG plays various roles in dynamics of inflammation in subjects with underlying autoimmunity modeled as "canonical" and "non-canonical" pathways; in canonical pathway, IFNG dimerizes and binds to IFNGR1 in IFNGR1/IFNGR2 hetero-multimer; STAT transcription factors are involved in non-canonical pathway. (IFNG = interferon gamma; IFNGR = IFNG receptor; STAT = signal transducers and activators of transcription)
B cell type 1 IFN receptor signals accelerate, but are not required for, lupus development.
The study did not provide enough powerful evidence to identify a significant association between IFNGR1 -56C/T polymorphism and tuberculosis susceptibility (meta-analysis).
All patients tested were positive for mycobacteria; one was heterozygous for the IFNGR1 exon 5 single-nucleotide-missense substitution
The deletion of IFNGR1 causes complete IFN-gammaR1 deficiency. Despite the deletion ending very close to the IL22RA2 gene, it does not appear to affect IL22RA2 transcription.
A significant association of IFN-gammaR1 and P2X7 genes polymorphisms with risk of developing TB in Iranian population.
Mendelian susceptibility to mycobacteria due to a partial dominant mutation of the interferon gamma receptor 1 gene.
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum
Statistical analyses revealed that four genetic variants in IFNGR1 were marginally associated with the risk of Tuberculosis (P = 0.02-0.04), while other single nucleotide polymorphisms in IFNGR1 and IFNGR2 did not exhibit any associations
Uniformly low expression of IFN and IFNGR1 in post Kala-azar dermal leishmaniasis skin biopsies could explain parasite persistence and is consistent with prior demonstration of genetic association with IFNGR1 polymorphisms.
FcgammaRIIa cross-talk with TLRs, IL-1R, and IFNgammaR selectively modulates cytokine production in human myeloid cells.
In an African-American population, a significant difference in IFNGR1 expression between patients with RA and controls. However, IFNGR1 expression levels were not statistically significantly associated with erosion status or other radiographic outcomes.
Canonical Ifn-gamma signaling via Ifngr1 and Stat1 is required for Parkinsonian neurodegenerative pathology
An Hematopoietic Stem Cell-based gene therapy approach for IFNgammaR1 deficiency, which protects mice from severe mycobacterial infections, thereby laying the foundation for a new therapeutic intervention in corresponding human patients.
significant upregulation of genes involved in inflammation and tissue remodeling in intestinal tumors of Ifngr1-/-ApcMin/+ mice when compared to those in Ifngr1+/+ApcMin/+ mice
These findings suggest that IFNGR1 signaling plays a pivotal role in placental pathology and subsequent adverse pregnancy outcomes during severe malaria. Our findings may increase our understanding of how disease aggravation occurs during malaria during pregnancy.
Down regulation of macrophage IFNGR1 resists infection by Listeria monocytogenes.
Marginal zone macrophage population loss is dependent on interferon gamma receptor but independent of T cells or tumor necrosis factor alpha receptor 1 signaling pathways.
These results suggest that pulmonary C-fibers affect IFNGR1 expression by inducing IFN-alpha to regulate IFN-gamma-mediated airway inflammation and airway hyperresponsiveness.
data define a novel B cell-intrinsic IFN-gammaR signaling pathway specific to Spt-GC development and autoimmunity.
These data offer direct evidence that tumor cell loss of the IFNGR1 gene, which results in loss of IFN-g signaling, leads to resistance to anti-CTLA-4 therapy.
These data indicate that both GKO and GRKO mice fail to develop an IFN-gamma-mediated antiviral response, but differ in regulation of the inflammatory response to infection.
IFN-gamma Ralpha is a key determinant of CD8+ T cell-mediated tumor elimination or tumor escape and relapse in FVB mouse.
IFN-lambdaR limits T cell responses and memory after transient infection but augments T cell responses during persisting infection.
Data indicate that prolonged IFNgammaR-/- dendritic cell survival promotes CD4 T cell expansion.
These data suggest that type I IFN stimulation induces a rapid recruitment of a repressive Egr3/Nab1 complex that silences transcription from the ifngr1 promoter.
IFNGR1 transcription is mediated by CTCF protein.
results suggest that NOD macrophages have a selective defect in IFN-gamma but not IFN-alpha/beta receptor pathway
Gamma interferon (IFN-gamma) receptor restricts systemic dengue virus replication and prevents paralysis in IFN-alpha/beta receptor-deficient mice.
The present data indicate that IFN-gammaR plays an essential role in mediating the early immune mechanisms induced by the infection of erythrocytic stages of P. yoelii 17XL parasite, leading to host survival.
these results demonstrate that IFN-gammaR may play a key role in CD4( ) T cell-mediated beta-cell destruction
analysis of mir-378 and of the interferon gamma receptor 1 protein at different stages of luteal development showed that mir-378 decreased the expression of interferon gamma receptor 1 protein but not the mRNA
SNPs in IFNG, IFNGR1 and R2, IL22, and IL22RA1 were analyzed for an association to Estimated breeding values for somatic cell score in Canadian Holstein bulls; no significant associations were found.
The receptor complex for Ifn-gamma2 includes cytokine receptor family B (Crfb)6 together with Crfb13 and Crfb17.
This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection.
AVP, type 2
, CD119 antigen
, IFN-gamma receptor 1
, antiviral protein, type 2
, immune interferon receptor 1
, interferon-gamma receptor alpha chain
, INF-g receptor
, interferon-gamma receptor 1
, interferon gamma receptor 1