Recombinant Human Interferon gamma receptor 1(IFNGR1)

1. discovered that a rare variant c.G40A in interferon gamma receptor 1 potentially contributes to the myasthenia gravis pathogenesis PMID: 29441481
2. Positive reaction in interferon-gamma release tests is not associated with IFNGR1 SNPs. PMID: 29209098
3. 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. PMID: 28744922
4. results showed a significant correlation between IFNGR1- T-56CSNP and Nontuberculous mycobacteria infection among studied populations PMID: 28719321
5. B cell type 1 IFN receptor signals accelerate, but are not required for, lupus development. PMID: 27069113
6. The study did not provide enough powerful evidence to identify a significant association between IFNGR1 -56C/T polymorphism and tuberculosis susceptibility (meta-analysis). PMID: 25382336
7. All patients tested were positive for mycobacteria; one was heterozygous for the IFNGR1 exon 5 single-nucleotide-missense substitution PMID: 27356097
8. 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. PMID: 26931784
9. A significant association of IFN-gammaR1 and P2X7 genes polymorphisms with risk of developing TB in Iranian population. PMID: 27020872
10. Mendelian susceptibility to mycobacteria due to a partial dominant mutation of the interferon gamma receptor 1 gene. PMID: 26251056
11. Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum PMID: 26343451
12. 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 PMID: 25815589
13. FcgammaRIIa cross-talk with TLRs, IL-1R, and IFNgammaR selectively modulates cytokine production in human myeloid cells. PMID: 25108563
14. 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. PMID: 25708927
15. Intact IFN-gammaR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease. PMID: 24254535
16. Genetic polymorphisms in IFNGR1 gene are involved in the risk of tuberculosis in the Chinese population. PMID: 24680779
17. work aimed to evaluate single nucleotide polymorphisms (SNPs) of IFNGR1, GSTT1, and GSTP1 genes samples in gastric cancer PMID: 24453034
18. A novel heterozygous frameshift mutation (805delT) encoding the IFN-gamma receptor 1 (IFNGR1) was identified, presenting in a case of Mycobacterium intracellulare infection. PMID: 24220318
19. An association study of functional polymorphic genes .... IFNGR-1, ...... with disease progression, aspartate aminotransferase, alanine aminotransferase, and viral load in chronic hepatitis B and C. PMID: 23040881
20. Interaction of IFNgammaR1 with TRAF6 regulates NF-kappaB activation and IFNlambdaR1 stability. PMID: 22644879
21. A novel endocytosis motif shares characteristics of tyrosine-based and dileucine-based internalization sequences and is highly conserved in IFN-gamma receptors across species. PMID: 22595141
22. IFNGR1 is a modifier gene of cystic fibrosis disease. PMID: 21731057
23. The Japanese patients with a genetic mutation in the IFN-gamma-R1 gene were more susceptible to developing recurrent disseminated mycobacterial infections. PMID: 21221749
24. Single nucleotide polymorphism in IFNGR1 gene is associated with rectal cancer. PMID: 21859832
25. CD74 gene over-expression in TEC can increase IFN-gammaR mRNA expression PMID: 21722521
26. The autosomal recessive disorder, because of a single mutation in interferon-gamma receptor-1(IFNGR1) at position -56, was found to be associated with susceptibility to leprosy in children of the same family. PMID: 21460021
27. IL-29 up-regulated, whereas IFNalpha down-regulated, the surface expression of the IFNgamma receptor 1 chain on macrophages, thereby resulting in differential responsiveness of TLR-challenged macrophages to IFNgamma. PMID: 21190998
28. results do not show an implication of IFNGR1gene polymorphisms in the susceptibility to and clinical expression of giant cell arteritis PMID: 20412699
29. Clinical trial of gene-disease association. (HuGE Navigator) PMID: 20399512
30. study showed a positive association between -56C/C genotype of IFNGR1 (OR = 1.7; 95% CI = 1.1-2.7) and pre-eclampsia. PMID: 20070287
31. Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. PMID: 20015550
32. A case-control association analysis failed to detect significant association between the IFNGR1 polymorphisms and cerebral malaria in the Thai population PMID: 19712753
33. partial IFNGR1 mutations in Japanese patients with BCG osteomyelitis PMID: 11865431
34. IFNGR1 gene promoter polymorphisms may be assocaited with susceptibility to cerebral malaria PMID: 12023780
35. Mutations in interferon-gamma receptor 1. PMID: 12027427
36. This study identified a further role of IFN-gamma on IL-4 responses, including reduced IL-4R surface expression by human monocytes. PMID: 12034035
37. Lipid microdomains are required sites for the selective endocytosis and nuclear translocation of IFN-gamma receptor-1. PMID: 12165521
38. Partial deficiency of IFN-gamma receptor 1 results in abrogation of IFN-gamma-induced killing of Salmonella typhimurium and Toxoplasma gondii due to IFN-gamma unresponsiveness of patients' cells of the monocyte/macrophage lineage. PMID: 12244188
39. FRET was used to demonstrate that the IFNGR chains were preassembled on the cell membrane. PMID: 12438563
40. suppressed by 2- to 3-fold in B-cell chronic lymphocytic leukemia cells, which is expected to increase CLL cell survival PMID: 12454749
41. Genome analysis identified polymorphism in the human interferon gamma receptor affecting Helicobacter pylori infection. PMID: 12516030
42. Mutations have no association with the susceptibility to lepromatous leprosy in the Korean population. PMID: 12743658
43. Unidentified allelic variations in the IFNGR1 gene might elevate or decrease the risk in the Croatian population, as a part of the multigenic predisposition to tuberculosis. PMID: 12753505
44. In this study, although IFN-gamma production in the allergic patients with L467P was equivalent to that in the non-allergic subjects, their serum IgE levels were high and they had allergic diseases PMID: 12851715
45. IFN-gamma receptor deficiency alters the epitope hierarchy of the pool of lymphocytic choriomeningitis virus-specific memory CD8 T cells without significantly affecting the immunodominance of the primary CD8 T cell response in an acute infection. PMID: 14734726
46. disease susceptibility in Schistosoma mansoni infection to hepatic fibrosis is linked to a SNP in the interferon gamma receptor locus (P=0.000001). PMID: 15756299
47. The IFN-GammaR2 Arg64/Arg64 genotype does not determine susceptibility to SLE in Chinese people, and the combination of IFN-Gamma R2 Arg64/Arg64 genotype and IFN-Gamma R1 Val14/Val14 genotype does not, either. PMID: 15952126
48. The relationship between polymorphisms at IFNGR1 and susceptibility to pulmonary tuberculosis is reported in Iranian patients. PMID: 16233916
49. IFNGR1 does not contribute to susceptibility to rheumatoid arthritis in Caucasians, although a single nucleotide polymorphisms exist in this disease. PMID: 16563189
50. Novel tuberculosis association was found with the 56CC genotype of the IFNGR1 promotor. PMID: 16690980

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HGNC: 5439

OMIM: 107470

KEGG: hsa:3459

STRING: 9606.ENSP00000356713

UniGene: Hs.520414