Gene Symbol: grhl3
Description: grainyhead-like transcription factor 3
Alias: cb467, sb:cb467, si:dkey-221l4.7, wu:fa01c12, wu:fb74c01, grainyhead-like protein 3 homolog, grainyhead-like 3
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
..In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3)...
Joseph S, PÃ¡lfy M, Hilbert L, Kumar M, Karschau J, Zaburdaev V, et al
. Competition between histone and transcription factor binding regulates the onset of transcription in zebrafish embryos. elife. 2017;6: pubmed publisher
..Our results demonstrate that the relative levels of histones and transcription factors regulate the onset of transcription in the embryo. ..
Janicke M, Renisch B, Hammerschmidt M. Zebrafish grainyhead-like1 is a common marker of different non-keratinocyte epidermal cell lineages, which segregate from each other in a Foxi3-dependent manner. Int J Dev Biol. 2010;54:837-50 pubmed publisher
Haendeler J, Mlynek A, Büchner N, Lukosz M, Graf M, Guettler C, et al
. Two isoforms of Sister-Of-Mammalian Grainyhead have opposing functions in endothelial cells and in vivo. Arterioscler Thromb Vasc Biol. 2013;33:1639-46 pubmed publisher
..Our data demonstrate that the splice variant-derived isoforms SOM1 and SOM3 induce opposing effects in primary human endothelial cells and in a whole animal model, most likely through the induction of different target genes. ..
Dworkin S, Simkin J, Darido C, Partridge D, Georgy S, Caddy J, et al
. Grainyhead-like 3 regulation of endothelin-1 in the pharyngeal endoderm is critical for growth and development of the craniofacial skeleton. Mech Dev. 2014;133:77-90 pubmed publisher
..morpholino (MO)-mediated knockdown in zebrafish of the highly conserved transcription factor grainyhead-like 3 (grhl3), which is selectively expressed in the pharyngeal endoderm, leads to severe hypoplasia of the lower jaw ..
Liu F, Yang F, Wen D, Xia W, Hao L, Hu J, et al
. Grhl1 deficiency affects inner ear development in zebrafish. Int J Dev Biol. 2015;59:417-23 pubmed publisher
..Collectively, these data are the first to indicate that grhl1 is important to the developing inner ear epithelia in zebrafish and that it acts via desmosome junction regulation. ..
Leslie E, Liu H, Carlson J, Shaffer J, Feingold E, WEHBY G, et al
. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet. 2016;98:744-54 pubmed publisher
..We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4...
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
..Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P...
Li E, Truong D, Hallett S, Mukherjee K, Schutte B, Liao E. Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model. PLoS Genet. 2017;13:e1007009 pubmed publisher
..Furthermore, it unlocked the possibility for characterizing yet undiscovered human IRF6 missense gene variants from orofacial cleft patients, and illustrated a generalizable functional genomics paradigm in personalized medicine. ..