ArticleJournal of biosciences2012
STAT3 mutations correlated with hyper-IgE syndrome lead to blockage of IL-6/STAT3 signalling pathway.
Article in Journal of biosciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable Expressivity.Journal of clinical immunology · 2026Article
- Hyper-IgE Syndrome: A Case Report with Insights from Bioinformatics Analysis of Key Pathways and Genes.Infection and drug resistance · 2025Article
- Cell Death Triggers Induce MLKL Cleavage in Multiple Myeloma Cells, Which may Promote Cell Death.Frontiers in oncology · 2022Article
- Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.The Journal of experimental medicine · 2021Article
- Loss of ZIP facilitates JAK2-STAT3 activation in tamoxifen-resistant breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Review
- A deep intronic splice mutation ofProceedings of the National Academy of Sciences of the United States of America · 2019Article
- Visualization and quantification of dynamic STAT3 homodimerization in living cells using homoFluoppi.Scientific reports · 2018Article
- STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.Frontiers in immunology · 2018Article
- Article
- STAT2 Is a Pervasive Cytokine Regulator due to Its Inhibition of STAT1 in Multiple Signaling Pathways.PLoS biology · 2016Article
- The Ying and Yang of STAT3 in Human Disease.Journal of clinical immunology · 2015Review
- Article
- Dominant-negative activity of the STAT3-Y705F mutant depends on the N-terminal domain.Cell communication and signaling : CCS · 2013Article
- PLZF regulates fibroblast growth factor responsiveness and maintenance of neural progenitors.PLoS biology · 2013Article
- Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity.Molecular endocrinology (Baltimore, Md.) · 2013Article
- Brevilin A, a novel natural product, inhibits janus kinase activity and blocks STAT3 signaling in cancer cells.PloS one · 2013Article
- PMS1077 sensitizes TNF-α induced apoptosis in human prostate cancer cells by blocking NF-κB signaling pathway.PloS one · 2013Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Of all the causes identified for the disease hyper-immunoglobulinemia E syndrome (HIES), a homozygous mutation in tyrosine kinase2 (TYK2) and heterozygous mutations in STAT3 are implicated the defects in Jak/STAT signalling pathway in the pathogenesis of HIES. Mutations of STAT3 have been frequently clinically identified in autosomaldominant (AD) HIES patients' cells, and therefore, the genotype of STAT3 has been associated with the phenotype of HIES. Here, we conducted studies on the functional loss of the seven specific STAT3 mutations correlated with ADHIES. Using STAT3-null human colon carcinoma cell line A4 cells, we generated seven mutants of STAT3 bearing single mutations clinically identified in AD-HIES patients' cells and studied the functional loss of these mutants in IL- 6-Jak/STAT3 signalling pathway. Our results show that five STAT3 mutants bearing mutations in the DNA-binding domain maintain the phosphorylation of Tyr705 and the ability of dimerization while the other two with mutations in SH2 domain are devoid of the phosphorylation of Try705 and abrogate the dimerization in response to IL-6. The phosphorylation of Ser727 in these mutants shows diversity in response to IL-6. These mutations eventually converge on the abnormalities of the IL-6/Gp130/Jak2-mediated STAT3 transactivation on target genes, indicative of the dysregulation of JAK/STAT signalling present in HIES.
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