| 1 | IFNGR1, IMD27A
|
| IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
|
| van de Vosse E, van Dissel JT.
|
| Hum Mutat um Mutat. 2017 Jul 25. doi: 10.1002/humu.23302. [Epub ahead of print]
2017
|
| 2 | IFNGR1
|
| IFN-γ receptor and STAT1 signaling in B cells are central to spontaneous germinal center formation and autoimmunity.
|
| Domeier PP, Chodisetti SB, Soni C, Schell SL, Elias MJ, Wong EB, Cooper TK, Kitamura D, Rahman ZS.
|
| J Exp Med 213(5):715-32. doi: 10.1084/jem.20151722. Epub 2016 Apr 11.
2016
|
| 3 | IFNGR1, IMD27A
|
| Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.
|
| de Vor IC, van der Meulen PM, Bekker V, Verhard EM, Breuning MH, Harnisch E, van Tol MJ, Wieringa JW, van de Vosse E, Bredius RG.
|
| J Clin Immunol 36(3):195-203. doi: 10.1007/s10875-016-0244-y. Epub 2016 Mar 1.
2016
|
| 4 | IFNGR1
|
| Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis.
|
| Shin JG, Park BL, Kim LH, Namgoong S, Kim JO, Chang HS, Park JS, Jang AS, Park SW, Kim DJ, Kim KU, Kim YG, Uh ST, Seo KH, Kim YH, Koh I, Park CS, Shin HD.
|
| Mol Med Rep 12(1):1568-78. doi: 10.3892/mmr.2015.3544. Epub 2015 Mar 24.
2015
|
| 5 | IFNGR1, STAT1
|
| Extracellular vesicles from neural stem cells transfer IFN-γ via Ifngr1 to activate Stat1 signaling in target cells.
|
| Cossetti C, Iraci N, Mercer TR, Leonardi T, Alpi E, Drago D, Alfaro-Cervello C, Saini HK, Davis MP, Schaeffer J, Vega B, Stefanini M, Zhao C, Muller W, Garcia-Verdugo JM, Mathivanan S, Bachi A, Enright AJ, Mattick JS, Pluchino S.
|
| Mol Cell 56(2):193-204. doi: 10.1016/j.molcel.2014.08.020. Epub 2014 Sep 18. Erratum in: Mol Cell. 2014 Nov 20;56(4):609.
2014
|
| 6 | IFNGR1
|
| Genetic polymorphisms of IFNG and IFNGR1 in association with the risk of pulmonary tuberculosis.
|
| Lü J, Pan H, Chen Y, Tang S, Feng Y, Qiu S, Zhang S, Wu L, Xu R, Peng X, Wang J, Lu C.
|
| Gene 543(1):140-4. doi: 10.1016/j.gene.2014.03.042. Epub 2014 Mar 25.
2014
|
| 7 | IFNGR1
|
| Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.
|
| Quispel WT, Stegehuis-Kamp JA, Santos SJ, van Wengen A, Dompeling E, Egeler RM, van de Vosse E, van Halteren AG.
|
| J Clin Immunol 34(1):84-93. doi: 10.1007/s10875-013-9959-1. Epub 2013 Nov 20. Review. Erratum in: J Clin Immunol. 2014 Jul;34(5):600. J Clin Im 2014
|
| 8 | IFNGR1, IMD27A
|
| A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection.
|
| Rose DM, Atkins J, Holland SM, Infante AJ.
|
| J Allergy Clin Immunol 133(2):591-2. doi: 10.1016/j.jaci.2013.07.054. Epub 2013 Nov 9. No abstract available.
2014
|
| 9 | IFNGR1
|
| A novel internalization motif regulates human IFN-γ R1 endocytosis.
|
| Yancoski J, Sadat MA, Aksentijevich N, Bernasconi A, Holland SM, Rosenzweig SD.
|
| J Leukoc Biol 92(2):301-8. doi: 10.1189/jlb.0212057. Epub 2012 May 17.
2012
|
| 10 | IFNGR1
|
| Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.
|
| Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K, Ohshima K, Okada S, Kobayashi M, Ohara O, Hara T.
|
| J Clin Immunol 31(3):309-14. doi: 10.1007/s10875-010-9498-y. Epub 2011 Jan 8.
2011
|
| 11 | IFNGR1, IFNGR1D, UPD6P
|
| Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
|
| Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Janničre L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL.
|
| Am J Med Genet A 152A(3):622-9.PMID: 20186794 2010
|
| 12 | IFNGR1
|
| Genomic structure and characterization of mRNA expression pattern of porcine interferon gamma receptor 1 gene.
|
| Xing F, Jiang C, Liang S, Kang L, Jiang Y.
|
| Int J Immunogenet 37(6):477-85. doi: 10.1111/j.1744-313X.2010.00951.x.
2010
|
| 13 | IFNGR1
|
| IFN-gamma receptor signaling regulates memory CD8+ T cell differentiation.
|
| Sercan O, Stoycheva D, Hämmerling GJ, Arnold B, Schüler T.
|
| J Immunol 184(6):2855-62. doi: 10.4049/jimmunol.0902708. Epub 2010 Feb 17.
2010
|
| 14 | IFNGR1, NOS2, TLR4
|
| NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans.
|
| Velez DR, Hulme WF, Myers JL, Weinberg JB, Levesque MC, Stryjewski ME, Abbate E, Estevan R, Patillo SG, Gilbert JR, Hamilton CD, Scott WK.
|
| Hum Genet 126(5):643-53. Epub 2009 Jul 3.PMID: 19575238 2009
|
| 15 | IFNGR1, IFNGR1D, IFNGR2, IFNGR2D, IL12B40, IL12RB1, IL12RB1D, NEMO, STAT1
|
| The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
|
| Al-Muhsen S, Casanova JL.
|
| J Allergy Clin Immunol 122(6):1043-51; quiz 1052-3. Review. 2008
|
| 16 | IFNGR1, TNFRSF21
|
| Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes.
|
| Stein CM, Zalwango S, Chiunda AB, Millard C, Leontiev DV, Horvath AL, Cartier KC, Chervenak K, Boom WH, Elston RC, Mugerwa RD, Whalen CC, Iyengar SK.
|
| Hum Genet 121(6):663-73. Epub 2007 Apr 13. 2007
|
| 17 | IFNGR1, IFNGR1D
|
| The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.
|
| Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M.
|
| J Med Genet 44(8):485-91. Epub 2007 May 18. 2007
|
| 18 | IFNGR1
|
| Context-specific functional effects of IFNGR1 promoter polymorphism.
|
| Koch O, Kwiatkowski DP, Udalova IA.
|
| Hum Mol Genet 15(9):1475-81. Epub 2006 Apr 6. 2006
|
| 19 | IFNGR1, IFNGR1D
|
| Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers.
|
| Blanton RE, Salam EA, Ehsan A, King CH, Goddard KA.
|
| Eur J Hum Genet 13(5):660-8. 2005
|
| 20 | HPIS, IFNGR1, IFNGR1D
|
| Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection.
|
| Thye T, Burchard GD, Nilius M, Muller-Myhsok B, Horstmann RD.
|
| Am J Hum Genet 72(2):448-53. Epub 2003 Jan 6. 2003
|
| 21 | MAP7, HBS1L, HPFH3, IFNGR1, BCLAF1, MAP3K5
|
| An integrated map of human 6q22.3-q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin.
|
| Game L, Close J, Stephens P, Mitchell J, Best S, Rochette J, Louis-dit-Sully C, Riley J, See CG, Sanseau P, Kearney L, Bethel G, Humphray S, Dunham I, Mungall A, Thein SL.
|
| Genomics 64(3):264-76. 2000
|
| 22 | IFNGR1
|
| A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
|
| Jouanguy E, et al.
|
| Nat Genet 21(4):370-8. 1999
|
| 23 | IFNGR1
|
| A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
|
| Altare F, et al.
|
| Am J Hum Genet 62 : 723-726. 1998
|
| 24 | IFNGR1, IFNGR1D
|
| Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.
|
| Dorman SE, et al.
|
| J Clin Invest 101 : 2364-2369. 1998
|
| 25 | IFNGR1, IL12RB1, IL12RB1D
|
| Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
|
| Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL.
|
| Science 280(5368):1432-5. 1998
|
| 26 | IFNGR1
|
| Assignment of interferon gamma receptor (IFNGR1) to human chromosome bands 6q24.1-->q24.2 by in situ hybridization.
|
| Papanicolaou GJ, Parsa NZ, Meltzer PS, Trent JM.
|
| Cytogenet Cell Genet 76(3-4):181-2. 1997
|
| 27 | IFNGR1
|
| The gene for the ligand binding chain of the human interferon gamma receptor.
|
| Merlin G, et al.
|
| Immunogenetics 45 : 413-421. 1997
|
| 28 | IFNGR1
|
| A mutation in the interferon - gamma-receptor gene and susceptibility to mycobacterial infection.
|
| Newport MJ, et al.
|
| N Engl J Med 335 : 1941-1949. 1996
|
| 29 | IFNGR1, IFNGR1D
|
| Interferon -gamma- receptor deficiency in an infant with fatal bacille Calmette-Guˇrin infection.
|
| Jouanguy E, et al.
|
| N Engl J Med 335 : 1956-1961. 1996
|
| 30 | IFNGR1, IMD27A
|
| A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection.
|
| Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M.
|
| N Engl J Med 335(26):1941-9.
1996
|
| 31 | IFNGR1
|
| TaqI RFLP in the interferon gamma receptor 1 gene (IFNGR1) on human chromosome 6q.
|
| Hauptschein R, et al.
|
| Nucleic Acids Res 20 : 1158. 1992
|
| 32 | IFNGR1
|
| Mapping of the human interferon gamma response.
|
| Alcaide-Loridan C, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 949. 1989
|
| 33 | IFNGR1
|
| Human interferon gammma receptor 1 (IFNGR1) gene maps to chromosome region 6q23-q24.
|
| Le Coniat M, et al.
|
| Hum Genet 84 : 92-94. 1989
|
| 34 | IFNGR1
|
| High affinity human IFN-gamma-binding capacity is encoded by a single receptor gene located in proximity to c-ros on human chromosome region 6q16 to 6q22.
|
| Pfizenmaier K, et al.
|
| J Immunol 141 : 856-860. 1988
|
| 35 | IFNGR1, IFNGR2
|
| Receptor for human gamma interferon is specified by human chromosomes 6 and 21.
|
| Bono R, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 584. 1987
|
| 36 | IFNGR1, IFNGR2
|
| Human chromosomes 6 and 21 are required for sensitivy to human interferon gamma.
|
| Jung V, et al.
|
| Proc Natl Acad Sci U S A 84 : 4151-4155. 1987
|
| 37 | IFNAR1, IFNAR2, IFNGR1
|
| The gene for the human immune interferon receptor is located on chromosome 6.
|
| Rashidbaigi A, et al.
|
| Proc Natl Acad Sci U S A 83 : 384-388. 1986
|
| 38 | IFNGR1
|
| M, Hasegawa K, Shimizu M, Tamari M, Namba K, Ohno S, Mizuki N, Ikezawa Z,
|
| M
|
| Shirakawa T, Hamuro J, Kinoshita S hirakawa T, Hamuro J, Kinoshita S. 0
|