Recombinant Human Interferon regulatory factor 6 (IRF6)

1. the cosegregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of three variants in the noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other family, are reported. PMID: 29666346
2. IRF6 defects are rare in Idiopathic Growth Hormone Deficiency (IGHD) patients. PMID: 28593555
3. We detected a significant association between the derived variants, rs2013162 and rs2235371 and the distances between a facial bone plane indicated by distance from Nasion and Point A (NA plane) to soft tissue landmarks; the Subalare (NA-Sbal) and the Subnasale (NA-Sn) in the sagittal plane. IRF6 variants play an important role in the normal range of variation in nasolabial soft-tissue morphology. PMID: 29065370
4. The IRF6 rs2235371 T allele decreased the risk of NSCL/P in Chinese Han populations. PMID: 29017114
5. We detected a haplotype-based interaction for BMP4 and IRF6 genes for expression of the orofacial cleft phenotype. Although the MDR methods indicate that the effect of interaction between these genes appears to be mild, the presence of specific haplotype combinations conferring a higher risk for NSCL/P reveals the possible combined role of these genes in the pathogenesis of this prevalent birth defect. PMID: 28133786
6. IRF6 rs2235375 single nucleotide polymorphism play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. PMID: 28712851
7. The data suggest that IRF6, TFAP2A, and GRHL3, among others, are shared in neural tube and orofacial development. PMID: 27933721
8. The epidermis of children with VWS baring mutations in IRF6 is thicker when compared with the epidermis of children with NSCLP carrying no IRF6 variants. We suggest that this phenotype is a result of increased keratinocyte proliferation in a cell-autonomous fashion. Our data are consistent with a previously described role for IRF6 in epidermal proliferation. PMID: 27115562
9. we performed an association study of AXIN2, BMP4 and IRF6 gene SNPs with Non-Syndromic Cleft Lip with or without Cleft Palate in an Iranian population and the findings proposed that BMP4 rs17563 polymorphism is associated with reduced risk against Non-Syndromic Cleft Lip with or without Cleft Palate. PMID: 29211286
10. Two novel mutations (Arg31Thr and Trp40Glyfs *23) in the IRF6 gene were identified to be causative for Van der Woude and popliteal pterygium syndromes in 6 Polish families. In the present study no association between the single nucleotide polymorphisms rs7552506, rs2013162, and rs2235375 and the cleft lip and/or palate phenotype was found. PMID: 25489771
11. Our results do not support the previously reported association between the A allele of rs642961 and the NSCL phenotype. However, in the VWS/PPS families, the A allele was a risk allele and was, in a large majority (>80%), transmitted on the same chromosome as the IRF6 mutation. PMID: 23394314
12. CCL5 and CXCL11 expression were also induced in response to the activation of the PKC pathway, and gene silencing experiments indicated that their inducible expression was dependent on RIPK4 and IRF6. Moreover, gene reporter assays suggested that RIPK4 induces CCL5 and CXCL11 expression by stimulating the transactivation of their promoters by IRF6. PMID: 27014863
13. IRF6 is aberrantly silenced by DNA methylation of the 5' IRF6 CGI in melanoma PMID: 28877249
14. 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 der Woude Syndrome without any other anomalies as well as a diagnosis of Popliteal pterygium syndrome in the same family is rare. PMID: 27286731
15. Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate PMID: 27511269
16. 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. PMID: 28945736
17. The data presented suggest an important role for cytoplasmic IRF6 in regulating the availability or localization of the NME1/2 complex and thus the dynamic behavior of epithelia during lip/palate development. PMID: 28767310
18. 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. PMID: 27223861
19. Here, the s have established that IRF6 promotes the differentiation of oral keratinocytes in response to Porphyromonas gingivalis. PMID: 28289145
20. mutations in syndromic orofacial clefting patients PMID: 27834299
21. 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. PMID: 26346622
22. This study demonstrated that the two SNPs, rs2235371 and rs2013162, are strongly associated with non-syndromic cleft palate in the northeast Chinese population. PMID: 27706679
23. 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. PMID: 26714022
24. Studied the correlation of IRF6 rs642961 polymorphism and NSCL/P in Iranian NSCL/P families; the family-based association analysis revealed no significant association between IRF6 rs642961 genotypes and an increased NSCL/P risk. PMID: 25220223
25. 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. PMID: 25441681
26. IRF6 is likely to promote inflammation to P. gingivalis through its regulation of IL-36gamma. PMID: 26819203
27. results confirmed the involvement of the IRF6 variants rs642961 and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population. PMID: 23509905
28. The IRF6 AP-2a binding site promoter polymorphism is associated with isolated oral clefts in Latvia. PMID: 25896037
29. genetic polymorphism of the IRF6 gene is associated with increased risk of nsCLP in a Xinjiang Uyghur population. PMID: 25592222
30. Data suggest that the toll like receptor 3 (TLR3)-interferon regulatory factor 6 protein (IRF6)-interleukin-23 subunit p19 (p19)/EBI3 protein axis may regulate keratinocyte functions in the skin. PMID: 26303210
31. IRF6 acts as a positive regulator of proliferation and transformation in MCF10A cells downstream of Notch signaling. PMID: 26161746
32. IRF6rs2235371 variation can increase the risk of nonsyndromic cleft lip/palate in the Iranian population. PMID: 26710774
33. The truncation of IRF6 also prevented the induction of its transactivator function by RIPK4. PMID: 25784454
34. Our results showed that many CL/P candidate genes have relation with Irf6, and 9 of these genes, including Msx1, Pvrl1, Pax9, Jag2, Irf6, Tgfb3, Rara, Gli2, and Tgfb2, were enriched into the CL/P gene group. PMID: 26086926
35. significant overrepresentation of tagSNP haplotype carrying rs642961 risk allele in most severe subphenotype of CL/P. recently shown that >80% of IRF6 mutations in syndromic CL/P occur on same haplotype. suggest IRF6 is marker of CL/P severity. PMID: 25896061
36. We speculate that a novel pathogenic mechanism involving SPCA1, p63, and IRF6 may play a role in the skin lesions occurring in HHD. PMID: 25256005
37. Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. PMID: 25579819
38. Ser-413 and Ser-424 in IRF6 are important for its activation by RIPK4 PMID: 25246526
39. The IRF6 350dupA variant is an etiologic mutation in Van der Woude syndrome patients and disrupts enhancer activity by a loss- and gain-of-function mechanism. PMID: 24442519
40. The newly identified mutations include three frameshifts (c.635delG; c.21_33del13; c.627delC) and one transition mutation (c.2T>C) affecting the first codon of IRF6. PMID: 23713753
41. IRF6 also contributes to host defense by providing specificity to the regulation of inflammatory chemokine expression by TLR2 in epithelial cells. PMID: 24872416
42. Heterozygous mutation (F252Y) in exon 7 of the IRF6 gene is associated with oral squamous cell carcinomas. PMID: 24377609
43. In IRF6, statistical evidence of an association between rs2235371 (p = 0.003), rs2013162 (p<0.0001) and non syndromic cleft lip/palate was observed in case-control analyses. PMID: 23940636
44. Variations in IRF6, MSX1 and PAX9, as well as genegene interactions, may be associated with nonsyndromic cleft lip with or without palate. PMID: 23921572
45. Our data demonstrated that mutations in two genes, IRF6 and GRHL3, can lead to nearly identical phenotypes of orofacial cleft. PMID: 24360809
46. Mutation of IRF6 occurs infrequently in controls, suggesting that for IRF6 there is a high probability that disruption of the coding sequence, particularly the DNA-binding domain, will result in syndromic features. PMID: 23154523
47. This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry; this new feature widens the phenotype spectrum of Van der Woude syndrome. PMID: 21995291
48. All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). PMID: 23512105
49. In the title PMID: 23169698
50. The IRF6 rs2235371, rs642961, and 8q24 rs987525 polymorphisms are associated with NSCL/P risk. PMID: 23166094

显示更多

收起更多

HGNC: 6121

OMIM: 119300

KEGG: hsa:3664

STRING: 9606.ENSP00000355988

UniGene: Hs.591415