Experts and Doctors on interferon regulatory factors in Iowa City, Iowa, United States

Summary

Locale: Iowa City, Iowa, United States
Topic: interferon regulatory factors

Top Publications

  1. Liu H, Leslie E, Jia Z, Smith T, Eshete M, Butali A, et al. 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. Hum Mol Genet. 2016;25:766-76 pubmed publisher
    ..These results indicate that rare NSCL/P risk variants can be found in members of the gene regulatory network governing periderm differentiation. ..
  2. Joly S, Rhea L, Volk P, Moreland J, Dunnwald M. Interferon Regulatory Factor 6 Has a Protective Role in the Host Response to Endotoxic Shock. PLoS ONE. 2016;11:e0152385 pubmed publisher
    ..These cells also exhibited an increased level of phosphorylated IkBa. Collectively, our findings suggest a role for Irf6 in the resistance to endotoxic shock due to NFk-B-mediated alteration of cytokine production. ..
  3. Biggs L, Rhea L, Schutte B, Dunnwald M. Interferon regulatory factor 6 is necessary, but not sufficient, for keratinocyte differentiation. J Invest Dermatol. 2012;132:50-8 pubmed publisher
    ..7? kb upstream of the Irf6 start site, we demonstrated that this element contributes to the regulation of Irf6 in the epidermis and keratinocytes in culture. ..
  4. Leslie E, Mancuso J, Schutte B, Cooper M, Durda K, L heureux J, et al. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013;161A:2535-2544 pubmed publisher
    ..We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome. ..
  5. Peyrard Janvid M, Leslie E, Kousa Y, Smith T, Dunnwald M, Magnusson M, et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014;94:23-32 pubmed publisher
    ..They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS. ..
  6. Bradford M, Schroeder A, Morse H, Vogel S, Cowdery J. CpG DNA induced IL-12 p40 gene activation is independent of STAT1 activation or production of interferon consensus sequence binding protein. J Biomed Sci. 2002;9:688-96 pubmed
    ..Thus, CpG DNA-induced IL-12 p40 secretion is mediated by one or more signaling elements distinct from those induced by either LPS or IFN-gamma. ..
  7. Ingraham C, Kinoshita A, Kondo S, Yang B, Sajan S, Trout K, et al. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet. 2006;38:1335-40 pubmed
    ..Histological and gene expression analyses indicate that the primary defect is in keratinocyte differentiation and proliferation. This study describes a new role for an IRF family member in epidermal development. ..
  8. Sabel J, d Alençon C, O Brien E, Van Otterloo E, Lutz K, Cuykendall T, et al. Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos. Dev Biol. 2009;325:249-62 pubmed publisher
    ..These experiments reveal a conserved role for maternally-encoded Irf6 in differentiation of a simple epithelium in X. laevis and D. rerio. This epithelium constitutes a novel model tissue in which to explore the Irf6 regulatory pathway...
  9. de la Garza G, Schleiffarth J, Dunnwald M, Mankad A, Weirather J, Bonde G, et al. Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3. J Invest Dermatol. 2013;133:68-77 pubmed publisher
    ..Finally, in Irf6-deficient mouse embryos, Grhl3 expression in the periderm and oral epithelium is virtually absent. These results indicate that Grhl3 is a key effector of Irf6 in periderm differentiation. ..

More Information

Publications15

  1. Parada Sanchez M, Chu E, Cox L, Undurty S, Standley J, Murray J, et al. Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate. J Dent Res. 2017;96:1330-1338 pubmed publisher
    ..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. ..
  2. Kondo S, Schutte B, Richardson R, Bjork B, Knight A, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002;32:285-9 pubmed
    ..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia. ..
  3. Zucchero T, Cooper M, Maher B, Daack Hirsch S, Nepomuceno B, Ribeiro L, et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 2004;351:769-80 pubmed
    ..DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate. The contribution of variants in single genes to cleft lip or palate is an important consideration in genetic counseling. ..
  4. Rahimov F, Marazita M, Visel A, Cooper M, Hitchler M, Rubini M, et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008;40:1341-7 pubmed publisher
    ..Our 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. ..
  5. Rorick N, Kinoshita A, Weirather J, Peyrard Janvid M, de Lima R, Dunnwald M, et al. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. Am J Med Genet A. 2011;155A:1314-21 pubmed publisher
    ..The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. ..
  6. Leslie E, Mansilla M, Biggs L, Schuette K, Bullard S, Cooper M, et al. Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A Clin Mol Teratol. 2012;94:934-42 pubmed publisher
    ..This work suggests a novel pathway in which the IRF6 gene regulatory network interacts with the Rho pathway via ARHGAP29. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc. ..