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Four SNPs in IFNGR2, IL12RB1, IL12RB2, and IL23R were found to be associated with the MAP infection status of the resource population.
A novel IL12RB1 N-terminal signal peptide stop-gain loss-of-function homozygous genotype connects three unrelated Brazilian kindreds with IL-12Rbeta1 deficiency with varying severity and early-onset age mainly regarding susceptibility to Mycobacteria, Histoplasma, and Salmonella infections through the paradoxical diminished cell-surface expression of an impaired IL-12Rbeta1 polypeptide.
To our knowledge, this is the third patient with Mendelian susceptibility to mycobacterial disease due to IL-12Rbeta1 deficiency complicated with enteropathy and hypogammaglobulinemia and the first case of this disease to be described in Colombia.
Th17 cells expressed consistent high levels of the IL-12Rbeta1 subunit, which appeared a better predictor of responsiveness to IL-23 than the expression of the IL-23R subunit.
Polymorphisms of IFNG, IL12B and IL12RB1 genes in paracoccidioidomycosis Brazilian patients do not affect the susceptibility or resistance to the disease.
Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rbeta1 deficiencies
The results of this case-control study suggest that IL-12A, IL-12B, IL12RB1, IL12RB2 and IL23R make no genetic contribution to the susceptibility of Takayasu arteritis in Chinese populations
Truncated IL12rbeta1/Fc is a novel fusion protein for specific binding multiple forms of p40 subunit to exert potent anti-inflammatory effects.
the introduction of RNA-DNA differences into an individual's IL12RB1 mRNA repertoire is a novel determinant of IL12/23 sensitivity.
we describe cosegregation of a heterozygous germline defect in IL12RB1 and gastric cancer development in a family with IL-12Rbeta1 deficiency
individual variability in IL12RB1 function is introduced at the epigenetic, genomic polymorphism, and mRNA splicing levels [review]
Early coupled up-regulation of IL12RB1 in CD8+ central memory and effector T cells result in better clinical outcomes in liver transplant recipients.
Strong association of rs438421 in the IL-12Rbeta1 gene with Allergic rhinitis in Chinese was demonstrated . The GG genotype of rs438421 was validated as stimulus factors to AR, while the AG genotype of rs438421 was confirmed as protective factors to AR.
Genetic variations of IL-12B, IL-12Rbeta1, IL-12Rbeta2 in Behcet's disease and VKH syndrome.
The IL-23/IL-23R/IL-12Rbeta1 complex formation does not follow the classical "site I-II-III" architectural paradigm.
IL-12Rbeta1 expression on the cell surface was negligible or absent.
SNP rs2305743 in IL12RB1 was associated with systemic sclerosis.
A review of the molecular genetics of all known IL12RB1 mutations and variants.
IL12Rbeta1 expression is lacking on CD8+ T and natural killer (NK) cell surface in a 33-year-old patient with Mycobacterium tilburgii infection.
Results suggest a relationship between certain TNF-alpha and IL12B polymorphisms and the short-term response to anti-TNF-alpha drugs.
Although SNPs of the IL12RB1 gene do not seem to convey some genetic predisposition for hidradenitis suppurativa, they impact considerably on the clinical phenotype of the disease.
the data support a model wherein IL12Rbeta1DeltaTM is a secreted product of il12rb1 that promotes resistance to M. tuberculosis infection by potentiating T(H) cells response to IL-12.
Although they share a common subunit, IL-23 and IL-12 receptors are not expressed on the same cell populations.
IL12RB1 is essential for human resistance to Mycobacterium tuberculosis infection
IL-12p40 is induced rapidly in response to Francisella tularensis LVS and is required for DC migration through an IL-12Rbeta1-IL-12(p40)2 dependent mechanism.
IL-12Rbeta1DeltaTM represents a novel regulator of IL12Rbeta1-dependent dendritic cell function and of the immune response to Mycobacterium tuberculosis.
IL-12R beta 1 deficiency results in decreased viral replication and inflammation following coxsackievirus B3-induced myocarditis, decreasing IL-1 beta and IL-18 in the heart.
The binding domain in the IL-12 receptor beta 1 cytoplasmic region has been mapped to sphingosine kinase 2.
Expression of the IL-12 beta 1 receptor is upregulated in both microglia and splenic macrophages.
IL-12 receptor beta 1 subunit plays an essential role in the activation and differentiation of Th1-type myelin oligodendrocyte glycoprotein (MOG)-specific autoreactive T cells in vivo.
IL-12 receptor beta 1 (Rbeta1) mediates IL-12 p40 homodimer (p80)-dependent macrophage chemotaxis and inhibition of the p80-Rbeta1 interaction, a novel anti-inflammatory strategy to manipulate inflammation associated with respiratory viral infection.
IL-15 induces chromatin remodeling of the IL12RB1 gene promoter, increasing IL12RB1 mRNA expression in synergy with IFN-gamma through the recruitment of PU.1 and IRF3.
Male and female mice deficient in IL-12Rbeta1 had decreased inflammation and viral replication in the heart, indicating that IL-12Rbeta1 signaling increases myocarditis in both sexes.
IL12p40(2) induces the expression of this IL16 via IL-12Rbeta1 but not IL-12Rbeta2.
This study delineates a new role of IL-12R beta 1 and IL-12R beta 2 for the expression of iNOS and production of NO in microglia that may participate in the pathogenesis of neuroinflammatory diseases.
Data show that the loss of IL-12R engagement does not appear to alter T-cell expansion but leads to their accumulation in secondary lymphoid organs.
Results show that direct IL-12 receptor signaling to CD8(+) T cells determines the cell fate decision between short-lived effector cells and memory precursor effector cells, which is dependent on pathogen-induced local cytokine milieu.
IL-12p40 homodimer induces NO production via IL-12Rbeta1, and NO subsequently suppresses Tregs in naive mouse splenocytes.
The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The lack of expression of this gene was found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.
interleukin-12 receptor subunit beta-1
, interleukin 12 receptor, beta 1
, IL12 receptor beta 1 subunit
, interleukin-12 receptor subunit beta-1-like
, IL-12 receptor beta component
, IL-12 receptor subunit beta-1
, IL-12R subunit beta-1
, interleukin-12 receptor beta-1 chain
, Interleukin-12 receptor beta-1 chain precursor (IL-12R-beta1) (Interleukin-12 receptor beta) (IL-12 receptor beta component)