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SPECC1L regulates palate development downstream of IRF6.
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, Imura H, Schultz-Rogers LE, Klee EW, Babovic-Vuksanovic D, Kroc SA, Adeyemo WL, Eshete MA, Bjork BC, Suzuki S, Murray JC, Schutte BC, Butali A, Saadi I. Hall EG, et al. Among authors: kousa ya. Hum Mol Genet. 2020 Mar 27;29(5):845-858. doi: 10.1093/hmg/ddaa002. Hum Mol Genet. 2020. PMID: 31943082 Free PMC article.
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC. Fakhouri WD, et al. Among authors: kousa ya. Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16. Hum Mol Genet. 2014. PMID: 24442519 Free PMC article.
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC. Leslie EJ, et al. Among authors: kousa ya. Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704602 Free PMC article.
Toward an orofacial gene regulatory network.
Kousa YA, Schutte BC. Kousa YA, et al. Dev Dyn. 2016 Mar;245(3):220-32. doi: 10.1002/dvdy.24341. Epub 2015 Sep 17. Dev Dyn. 2016. PMID: 26332872 Free PMC article. Review.
IRF6 and AP2A Interaction Regulates Epidermal Development.
Kousa YA, Fuller E, Schutte BC. Kousa YA, et al. J Invest Dermatol. 2018 Dec;138(12):2578-2588. doi: 10.1016/j.jid.2018.05.030. Epub 2018 Jun 18. J Invest Dermatol. 2018. PMID: 29913133 Free article.
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. Kousa YA, et al. Hum Mol Genet. 2019 May 15;28(10):1726-1737. doi: 10.1093/hmg/ddz010. Hum Mol Genet. 2019. PMID: 30689861 Free PMC article.
IRF6 and SPRY4 Signaling Interact in Periderm Development.
Kousa YA, Roushangar R, Patel N, Walter A, Marangoni P, Krumlauf R, Klein OD, Schutte BC. Kousa YA, et al. J Dent Res. 2017 Oct;96(11):1306-1313. doi: 10.1177/0022034517719870. Epub 2017 Jul 21. J Dent Res. 2017. PMID: 28732181 Free PMC article.
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC. Peyrard-Janvid M, et al. Among authors: kousa ya. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360809 Free PMC article.
30 results