Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
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J. Kere | B. Andersen | I. Fransson | J. Murray | W. Gordon | P. Unneberg | M. Peyrard-Janvid | T. Svensson | B. Schutte | M. Dunnwald | H. Koillinen | L. Basel‐Vanagaite | R. Cornell | E. Leslie | J. Rautio | M. Pegelow | A. Karsten | Y. Kousa | M. Magnusson | Brian A. Lentz | Tiffany L Smith | Youssef A. Kousa
[1] J. Kere,et al. Association and Mutation Analyses of the IRF6 Gene in Families with Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate , 2014, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
[2] S. Bale,et al. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases , 2012, Genetics in Medicine.
[3] T. Mansour,et al. Interferon Regulatory Factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3 , 2012, The Journal of investigative dermatology.
[4] S. Cichon,et al. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci , 2012, Nature Genetics.
[5] Holger Schwender,et al. Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate , 2011, Genetic epidemiology.
[6] G. Pesole,et al. Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas , 2011, Proceedings of the National Academy of Sciences.
[7] M. DePristo,et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.
[8] S. Hasnain,et al. Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan , 2010, Clinical genetics.
[9] Richard Durbin,et al. Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..
[10] M. Dixon,et al. Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence , 2009, Human molecular genetics.
[11] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[12] S. Kondo,et al. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome , 2009, Genetics in Medicine.
[13] T. Taniguchi,et al. The IRF family transcription factors in immunity and oncogenesis. , 2008, Annual review of immunology.
[14] M. Lovett,et al. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6) , 2006, Nature Genetics.
[15] Michael J Dixon,et al. Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch , 2006, Nature Genetics.
[16] Zhengquan Yu,et al. The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4. , 2006, Developmental biology.
[17] Ken W. Y. Cho,et al. Grainyhead-like 3, a transcription factor identified in a microarray screen, promotes the specification of the superficial layer of the embryonic epidermis , 2006, Mechanisms of Development.
[18] A. S. Knight,et al. Developmental expression analysis of the mouse and chick orthologues of IRF6: The gene mutated in Van der Woude syndrome , 2006, Developmental dynamics : an official publication of the American Association of Anatomists.
[19] J. Kere,et al. Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome , 2005, European Journal of Human Genetics.
[20] S. Jane,et al. A Homolog of Drosophila grainy head Is Essential for Epidermal Integrity in Mice , 2005, Science.
[21] Joseph C. Pearson,et al. An Epidermal Barrier Wound Repair Pathway in Drosophila Is Mediated by grainy head , 2005, Science.
[22] K. Christensen,et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. , 2004, The New England journal of medicine.
[23] A. Mills,et al. p63 is the molecular switch for initiation of an epithelial stratification program. , 2004, Genes & development.
[24] Jeffrey C. Murray,et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes , 2002, Nature Genetics.
[25] J. Kere,et al. Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34 , 2001, European Journal of Human Genetics.
[26] T. Mosmann,et al. T helper 1 response against Leishmania major in pregnant C57BL/6 mice increases implantation failure and fetal resorptions. Correlation with increased IFN-gamma and TNF and reduced IL-10 production by placental cells. , 1996, Journal of immunology.
[27] Tawny N. Cuykendall,et al. Maternal Interferon Regulatory Factor 6 is required for the differentiation of primary superficial epithelia in Danio and Xenopus embryos. , 2009, Developmental biology.
[28] B. Thisse,et al. High-resolution in situ hybridization to whole-mount zebrafish embryos , 2007, Nature Protocols.
[29] P. Coulombe,et al. A reporter transgene based on a human keratin 6 gene promoter is specifically expressed in the periderm of mouse embryos , 2001, Mechanisms of Development.
[30] S. Gregory,et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. , 2000, Genome research.
[31] C. Puckett,et al. Genetic analysis in families with van der Woude syndrome. , 1985, Journal of craniofacial genetics and developmental biology.
[32] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .