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GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141.
Naesens L, Muppala S, Acharya D, Nemegeer J, Bogaert D, Lee JH, Staes K, Debacker V, De Bleser P, De Bruyne M, De Baere E, van Gent M, Liu G, Lambrecht BN, Staal J, Kerre T, Beyaert R, Maelfait J, Tavernier SJ, Gack MU, Haerynck F. Naesens L, et al. Among authors: de bleser p, de bruyne m, de baere e. Sci Immunol. 2022 Nov 25;7(77):eabq4531. doi: 10.1126/sciimmunol.abq4531. Epub 2022 Nov 18. Sci Immunol. 2022. PMID: 36399538 Free PMC article.
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: de paepe a. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E. D'haene B, et al. Among authors: de paepe a, de baere e. Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233. Hum Mutat. 2010. PMID: 20232352
Evolutionary origin of Hoxc13-dependent skin appendages in amphibians.
Carron M, Sachslehner AP, Cicekdal MB, Bruggeman I, Demuynck S, Golabi B, De Baere E, Declercq W, Tschachler E, Vleminckx K, Eckhart L. Carron M, et al. Among authors: de baere e. Nat Commun. 2024 Mar 18;15(1):2328. doi: 10.1038/s41467-024-46373-x. Nat Commun. 2024. PMID: 38499530 Free PMC article.
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: de paepe a, de baere e. Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16. Am J Hum Genet. 2005. PMID: 15962237 Free PMC article.
A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. Leroy BP, et al. Among authors: de baere e. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10. Br J Ophthalmol. 2009. PMID: 18617546 Free article.
217 results