Varaico: Literature-Extracted Genetic Variants

Gene:IL12RB1
Variant:p.M365T
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IL12RB1

NM_005535.3:p.M365T

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Mannose-binding lectin 2 gene polymorphisms and their association with tuberculosis in a Chinese population.

Zhang JX et al.

Infectious Diseases of Poverty, 2020

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

Influence of Genetic Polymorphism Towards Pulmonary Tuberculosis Susceptibility.

Harishankar M et al.

Frontiers in Medicine, 2018

Novel mutations in the exon 5, intron 2 and 3' UTR regions of IL-12B gene were observed in clinically proven tuberculosis patients of south India.

Babu PP et al.

Cytokine, 2017

Polymorphisms on IFNG, IL12B and IL12RB1 genes and paracoccidioidomycosis in the Brazilian population.

Carvalho FM et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2016

Complement Regulates Nutrient Influx and Metabolic Reprogramming during Th1 Cell Responses.

Kolev M et al.

Immunity, 2015

26084023 (PubMed )
Supplement: mmc2.xlsx › 141119_pid_genes_6069_nonsyn_or

Polymorphisms in TICAM2 and IL1B are associated with TB.

Hall NB et al.

Genes and Immunity, 2015

Clinical characteristics and immunogenetics of BCGosis/BCGitis in Chinese children: a 6 year follow-up study.

Ying W et al.

Plos One, 2014

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E et al.

Human Mutation, 2013

Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.

Potjewijd J et al.

Clinical Immunology (orlando, Fla.), 2012

DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.

Qidwai T et al.

Scandinavian Journal of Immunology, 2012

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L et al.

Medicine, 2010

Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

Hildebrandt MA et al.

Plos One, 2010

Can immunogenetics illuminate the diverse manifestations of respiratory infections?

Affandi JS et al.

Therapeutic Advances in Respiratory Disease, 2010

Cytokine genes are associated with tuberculin skin test response in a native Brazilian population.

Zembrzuski VM et al.

Tuberculosis (edinburgh, Scotland), 2010

IL-12 RB1 genetic variants contribute to human susceptibility to severe acute respiratory syndrome infection among Chinese.

Tang F et al.

Plos One, 2008

Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia.

Sahiratmadja E et al.

Tuberculosis (edinburgh, Scotland), 2007

Multilocus analysis of atopy in Korean children using multifactor-dimensionality reduction.

Park HW et al.

Thorax, 2007

Association of IL12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese: a gene-based association analysis of 21 candidate genes.

Kusuhara K et al.

International Journal of Immunogenetics, 2007

Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.

van de Vosse E et al.

Human Molecular Genetics, 2005

Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.

Takahashi N et al.

Human Molecular Genetics, 2005

Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus.

Sánchez E et al.

Rheumatology (oxford, England), 2005

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.

Remus N et al.

The Journal of Infectious Diseases, 2004

Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population.

Bassuny WM et al.

Immunogenetics, 2003

Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis.

Akahoshi M et al.

Human Genetics, 2003

Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function.

van de Vosse E et al.

Immunogenetics, 2003

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.

Elloumi-Zghal H et al.

The Journal of Infectious Diseases, 2002

Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection.

Sakai T et al.

Blood, 2001

Interleukin-12 receptor beta1 polymorphisms and nontuberculous mycobacterial lung diseases.

Park HY et al.

Lung, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."