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Interferon regulatory factor 6

IRF6, interferon regulatory factor 6
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.[provided by RefSeq, May 2011] (from NCBI)
Top mentioned proteins: LIP, CAN, HAD, NSCL, MSX1
Papers on IRF6
Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.
Félix et al., Porto Alegre, Brazil. In Oral Dis, Jan 2016
OBJECTIVE: Investigating the association between non-syndromic oral cleft and variants in IRF6 (rs2235371 and rs642961) and 8q24 region (rs987525) according to the ancestry contribution of the Brazilian population.
Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.
Cornell et al., Wuhan, China. In Hum Mol Genet, Jan 2016
Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P.
Knockdown of IRF6 Attenuates Hydrogen Dioxide-Induced Oxidative Stress via Inhibiting Mitochondrial Dysfunction in HT22 Cells.
Yang et al., Xi'an, China. In Cell Mol Neurobiol, Dec 2015
Interferon regulatory factor 6 (IRF6), a member of the IRF family of transcription factors, is required for the differentiation of skin, breast epithelium, and oral epithelium.
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Marazita et al., Pittsburgh, United States. In Clin Genet, Oct 2015
About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs.
Toward an orofacial gene regulatory network.
Schutte et al., East Lansing, United States. In Dev Dyn, Oct 2015
Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births).
[Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate].
Zhu et al., In Wei Sheng Yan Jiu, Jul 2015
OBJECTIVE: To explore the relationship between polymorphism of interferon regulatory factor 6 (IRF6) gene rs642961 locus and nonsyndromic cleft lip with or without cleft palate (NSCL ± P).
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.
Passos-Bueno et al., São Paulo, Brazil. In Am J Med Genet A, 2012
To test the role of IRF6 in NSCL/P predisposition in the Brazilian population, we conducted a structured association study with the SNPs rs642961 and rs590223, respectively, located at 5' and 3' of the IRF6 gene and not in strong linkage disequilibrium
Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.
Zilfalil et al., Malaysia. In Eur J Med Genet, 2012
two novel mutations in IRF6 are identified in families with non-syndromic oral clefts
[Association between polymorphism of IRF6 rs2235371 locus and nonsyndromic cleft lip with or without cleft palate].
Li et al., Beijing, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012
There was also a significant difference in genotype and gene frequencies of IRF6 rs2235371 variant between family members from cleft lip only group and control group.
MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63.
Schutte et al., East Lansing, United States. In Dev Dyn, 2012
These data suggest that MCS9.7 enhancer activity is not sufficient to recapitulate IRF6 expression, and that p63 expression is not always necessary nor sufficient for transactivation of IRF6.
Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.
El-Ruby et al., Cairo, Egypt. In Genet Couns, 2011
IRF6 gene im implicated in the Van der Woude and popliteal pterygium syndromes.
Genetic and environmental factors in human cleft lip and palate.
Vieira, Pittsburgh, United States. In Front Oral Biol, 2011
The latest effort in gene identification and the associations between isolated cleft lip and palate and the loci harboring IRF6 (1q32) and 8q24.21 are highlighted, as well as the latest insight from more sophisticated phenotypical characterization and the inclusion of covariables related to the environment in the analysis of genetic variation.
Breakthroughs in the genetics of orofacial clefting.
Nöthen et al., Bonn, Germany. In Trends Mol Med, 2011
Of many linkage and candidate gene studies for orofacial clefting, only the interferon regulatory factor 6 (IRF6) gene has been identified as causative. (Review)
Genetics of syndromic and nonsyndromic cleft lip and palate.
Tetè et al., Pescara, Italy. In J Craniofac Surg, 2011
Among these, the Van der Woude syndrome, caused by mutation of the IRF6 gene, represents the commonest form of syndromic CL/P, accounting for about 2% of all cases.
The mutational landscape of head and neck squamous cell carcinoma.
Grandis et al., Cambridge, United States. In Science, 2011
At least 30% of cases harbored mutations in genes that regulate squamous differentiation (for example, NOTCH1, IRF6, and TP63), implicating its dysregulation as a major driver of HNSCC carcinogenesis.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Scott et al., Baltimore, United States. In Nat Genet, 2010
P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance.
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
Murray et al., Iowa City, United States. In Nat Genet, 2008
These findings place IRF6 and AP-2alpha in the same developmental pathway and identify a high-frequency variant in a regulatory element contributing substantially to a common, complex disorder.
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6).
Schutte et al., Iowa City, United States. In Nat Genet, 2006
New role for an IRF family member in epidermal development.
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.
Dixon et al., Manchester, United Kingdom. In Nat Genet, 2006
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.
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