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IRF6 encodes a member of the interferon regulatory transcription factor (IRF) family. Additionally we are shipping IRF6 Antibodies (98) and many more products for this protein.
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In all three affecteds the known pathogenic mutation c.265A>G, p.Lys89Glu in IRF6 was identified. While inter- as well as intra-familial variability has been described in IRF6-related disorders, the occurrence of a typical Van (show TNIP1 Proteins) der (show GDF3 Proteins) Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare.
Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate
Here, we demonstrate the protein functions of human IRF6 missense gene variants could be rapidly assessed in detail by their abilities to rescue the irf6 -/- phenotype in zebrafish through variant mRNA microinjections at the one-cell stage.
The data presented suggest an important role for cytoplasmic IRF6 in regulating the availability or localization of the NME1 (show NME1 Proteins)/2 complex and thus the dynamic behavior of epithelia during lip/palate development.
IRF6 dysregulation may be involved in the development of Vulvar Squamous Cell Carcinoma from vulvar lichen sclerosus (VLS). Methylation of the IRF6 promoter may be a marker of cancer risk in patients with VLS.
Here, the authors have established that IRF6 promotes the differentiation of oral keratinocytes in response to Porphyromonas gingivalis.
It has been shown that pathogenic IRF6 mutations are likely to occur in a small fraction (~0.3%) of individuals with apparent nonsyndromic orofacial cleft, across multiple ethnic groups.
The 8q24 region plays a role in cleft lip/palate and the IRF6 G/A haplotype (rs2235371/rs642961) increases the risk for oral cleft in the Brazilian population.
Studied the correlation of IRF6 rs642961 polymorphism and NSCL (show NHLH1 Proteins)/P in Iranian NSCL (show NHLH1 Proteins)/P families; the family-based association analysis revealed no significant association between IRF6 rs642961 genotypes and an increased NSCL (show NHLH1 Proteins)/P risk.
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype.
Fish IRF6 is distinguished from the homolog of mammals by being a positive regulator of IFN transcription and phosphorylated by MyD88 (show MYD88 Proteins) and TBK1 (show TBK1 Proteins), suggesting that differences in the IRF6 regulation pattern exist between lower and higher vertebrates.
Authors report that Kruppel-like factor 17 (Klf17 (show KLF17 Proteins)), like Grhl3 (show GRHL3 Proteins), acts downstream of Irf6 in this network in zebrafish periderm.
In zebrafish periderm, grainyhead-like 3 (grhl3 (show GRHL3 Proteins)) (an ancient regulator of the epidermal permeability barrier), was identified as acting downstream of Irf6. Simultaneous inhibition of grhl1 (show GRHL1 Proteins) and grhl3 (show GRHL3 Proteins) disrupted periderm differentiation in zebrafish.
analysis of zebrafish expression of IRF6
These experiments reveal a conserved role for maternally-encoded Irf6 in differentiation of a simple epithelium in X. laevis and D. rerio.
IRF6 suppresses PPARgamma (show PPARG Proteins) through binding IRF (show TRIM63 Proteins) recognition sites located upstream of the PPARgamma (show PPARG Proteins) coding region. Taken together, the results suggest that an IRF6/PPARgamma (show PPARG Proteins) regulatory axis suppresses anti-inflammatory responses in bone marrow-derived macrophages and provides references for future study addressing dysregulated metabolic and immunologic homeostasis of obese adipose tissue.
Irf6 and RTK signaling interact in regulating periderm differentiation and function, as well as provide a rationale to screen for epistatic interactions between variants in IRF6 and RTK signaling pathway genes in human orofacial clefting populations.
These data provide the first mechanistic insight into the heightened caries susceptibility associated with CLP (show HAPLN1 Proteins) and indicate a direct role for the major CLP (show HAPLN1 Proteins) gene Irf6 in salivary gland development and a significant role in regulating oral immunity in mice.
that downregulation of interferon regulatory factor 6 affords protection against TNI (show TNNI2 Proteins) through Akt (show AKT1 Proteins)-eNOS (show NOS3 Proteins) pathway-mediated antioxidative and anti-inflammatory activity
Irf6 is required for resistance to Lipopolysaccharides-induced endotoxic shock. In addition, Irf6-deficient bone marrow-derived neutrophils exhibited increased chemotactic index and velocity compared with wild-type cells in vitro.
TGFbeta3 increases IRF6 expression and subsequently regulates SNAI2 (show SNAI2 Proteins) expression; IRF6 appears to regulate epithelial mesenchymal transition during palatal fusion via SNAI2 (show SNAI2 Proteins).
Pvrl1 (show PVRL1 Proteins) is a bona fide target gene of the transcription factor p63 (show CKAP4 Proteins), whereas Pvrl4 (show PVRL4 Proteins) regulation is linked to epidermal differentiation and is under Irf6
Data suggest that Irf6 functions through the RhoA (show RHOA Proteins) pathway to regulate cellular migration.
These results support a role for IRF6 in brain morphometry and provide evidence for a potential genetic link to abnormal brain development in orofacial clefting.
Irf6 plays important cell-autonomous and non-cell-autonomous roles in muscular differentiation and cytoskeletal formation in the tongue.
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.
interferon regulatory factor 6
, interferon regulatory factor 6-like