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1996 1
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352 results

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Page 1
Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator.
Reeme AE, Claeys TA, Aggarwal P, Turner AJ, Routes JM, Broeckel U, Robinson RT. Reeme AE, et al. Genes Immun. 2019 Mar;20(3):181-197. doi: 10.1038/s41435-018-0023-2. Epub 2018 Mar 30. Genes Immun. 2019. PMID: 29599514 Free PMC article.
Furthermore following its expression the IL12RB1 pre-mRNA is processed into either IL12RB1 Isoform 1 (IL12Rbeta1, a positive regulator of IL12 responsiveness) or IL12RB1 Isoform 2 (a protein of heretofore unknown function). T cells choice to process pre-mRNA …
Furthermore following its expression the IL12RB1 pre-mRNA is processed into either IL12RB1 Isoform 1 (IL12Rbeta1, a positive r …
Immune Correlates of Disseminated BCG Infection in IL12RB1-Deficient Mice.
Wang X, Jia L, Liu Y, Wang J, Qiu C, Li T, Zhang W, Zhu Z, Wu J, Wan Y. Wang X, et al. Vaccines (Basel). 2022 Jul 19;10(7):1147. doi: 10.3390/vaccines10071147. Vaccines (Basel). 2022. PMID: 35891311 Free PMC article.
In this study, we investigated the mechanism of tuberculosis suppression using the IL12RB1-deficient mouse model. Our results manifested that Il12rb1(-/-) mice had significantly increased CFU counts in spleens and lungs, especially when BCG (Danish strain) was inocu …
In this study, we investigated the mechanism of tuberculosis suppression using the IL12RB1-deficient mouse model. Our results manifes …
IL12RB1 allele bias in human T(H) cells is regulated by functional SNPs in its 3'UTR.
Rosas Mejia O, Claeys TA, Williams A, Zafar A, Robinson RT. Rosas Mejia O, et al. Cytokine. 2022 Oct;158:155993. doi: 10.1016/j.cyto.2022.155993. Epub 2022 Aug 22. Cytokine. 2022. PMID: 36007427
Here we demonstrate that human T(H) cell expression of the cytokine receptor gene IL12RB1 is subject to allele bias, and the extent to which this bias occurs is influenced by cells' differentiation status and two polymorphic sites in the IL12RB1 3'UTR. ...Collective …
Here we demonstrate that human T(H) cell expression of the cytokine receptor gene IL12RB1 is subject to allele bias, and the extent t …
IL-12Rbeta1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. van de Vosse E, et al. Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Hum Mutat. 2013. PMID: 23864330 Free PMC article. Review.
In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database (www.LOVD.nl/IL12RB1). In this article, we revie …
In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. Al …
Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.
Sharifinejad N, Mahdaviani SA, Jamee M, Daneshmandi Z, Moniri A, Marjani M, Tabarsi P, Farnia P, Rekabi M, Fallahi M, Hashemimoghaddam SA, Mohkam M, Bustamante J, Casanova JL, Mansouri D, Velayati AA. Sharifinejad N, et al. Pediatr Rheumatol Online J. 2021 Aug 13;19(1):121. doi: 10.1186/s12969-021-00623-0. Pediatr Rheumatol Online J. 2021. PMID: 34389021 Free PMC article. Review.
Patients were all involved with vasculitis at the median age of 6.8 (2.6-7.7) years, nearly 6.1 years after the initial presentations. Sixteen patients (88.9%) had IL12RB1 defects and concurrent Salmonella infection was reported in 15 (88.2%) patients. CONCLUSION: The lack …
Patients were all involved with vasculitis at the median age of 6.8 (2.6-7.7) years, nearly 6.1 years after the initial presentations. Sixte …
Autosomal recessive IL12RB1 mutation: A case report of a Sudanese child and his father.
Abdelmajeed O, Ali MMD, Erwa NH, Mustafa A, Ahmed YA, Ahmed RHA, Mohammed HHE, Hassan ME, Ahmed M, Algam S. Abdelmajeed O, et al. Front Immunol. 2023 Mar 31;14:1135824. doi: 10.3389/fimmu.2023.1135824. eCollection 2023. Front Immunol. 2023. PMID: 37063912 Free PMC article.
Genetic testing surprisingly revealed pathogenic homozygous variants in IL12RB1 Exon 9, c.913A>T (p. Lys305*) in both the patient and his father, with a completely healthy asymptomatic carrier mother who is not blood related to the patient's father. ...
Genetic testing surprisingly revealed pathogenic homozygous variants in IL12RB1 Exon 9, c.913A>T (p. Lys305*) in both the patient …
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Bustamante J, et al. Semin Immunol. 2014 Dec;26(6):454-70. doi: 10.1016/j.smim.2014.09.008. Epub 2014 Oct 26. Semin Immunol. 2014. PMID: 25453225 Free PMC article. Review.
Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO, and CYBB) genes have been discovered. ...The nine gene products are physiologically related, as all are involved in IFN-gamma-dep …
Since 1996, nine MSMD-causing genes, including seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-lin …
Early control of Mycobacterium tuberculosis infection requires il12rb1 expression by rag1-dependent lineages.
Miller HE, Robinson RT. Miller HE, et al. Infect Immun. 2012 Nov;80(11):3828-41. doi: 10.1128/IAI.00426-12. Epub 2012 Aug 20. Infect Immun. 2012. PMID: 22907814 Free PMC article.
IL12RB1 is essential for human resistance to Mycobacterium tuberculosis infection. ...We further demonstrate that the protection afforded by adaptive lymphocyte il12rb1 expression is mediated partially through ifng and that, within the same infection, il12rb1
IL12RB1 is essential for human resistance to Mycobacterium tuberculosis infection. ...We further demonstrate that the protection affo
IL12Rβ1: the cytokine receptor that we used to know.
Robinson RT. Robinson RT. Cytokine. 2015 Feb;71(2):348-59. doi: 10.1016/j.cyto.2014.11.018. Epub 2014 Dec 13. Cytokine. 2015. PMID: 25516297 Free PMC article. Review.
Human IL12RB1 encodes IL12Rbeta1, a type I transmembrane receptor that is an essential component of the IL12- and IL23-signaling complex. ...However, recent data demonstrate that in addition to promoting DTH, IL12RB1 also promotes autoimmunity. The contradictory rol …
Human IL12RB1 encodes IL12Rbeta1, a type I transmembrane receptor that is an essential component of the IL12- and IL23-signaling comp …
IL12Rbeta1deltaTM is a secreted product of il12rb1 that promotes control of extrapulmonary tuberculosis.
Ray AA, Fountain JJ, Miller HE, Cooper AM, Robinson RT. Ray AA, et al. Infect Immun. 2015 Feb;83(2):560-71. doi: 10.1128/IAI.01230-13. Epub 2014 Nov 17. Infect Immun. 2015. PMID: 25404030 Free PMC article.
IL12RB1 is a human gene that is important for resistance to Mycobacterium tuberculosis infection. ...Recently, we observed that il12rb1-the mouse homolog of IL12RB1-is alternatively spliced by leukocytes to produce a second isoform (IL12Rbeta1deltaTM) that ha
IL12RB1 is a human gene that is important for resistance to Mycobacterium tuberculosis infection. ...Recently, we observed that il
352 results