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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Van de Sompele S, et al. Among authors: vleminckx k. Am J Hum Genet. 2022 Nov 3;109(11):2029-2048. doi: 10.1016/j.ajhg.2022.09.013. Epub 2022 Oct 14. Am J Hum Genet. 2022. PMID: 36243009 Free PMC article.
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: vleminckx k. Nat Commun. 2024 Mar 18;15(1):2328. doi: 10.1038/s41467-024-46373-x. Nat Commun. 2024. PMID: 38499530 Free PMC article.
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ. Symoens S, et al. Among authors: vleminckx k. Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365339 Free PMC article.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. Kariminejad A, et al. Among authors: vleminckx k. Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761294 Free PMC article.
Hearing loss in Waardenburg syndrome: a systematic review.
Song J, Feng Y, Acke FR, Coucke P, Vleminckx K, Dhooge IJ. Song J, et al. Among authors: vleminckx k. Clin Genet. 2016 Apr;89(4):416-425. doi: 10.1111/cge.12631. Epub 2015 Jul 17. Clin Genet. 2016. PMID: 26100139 Review.
Transcription factor Zic2 inhibits Wnt/β-catenin protein signaling.
Pourebrahim R, Houtmeyers R, Ghogomu S, Janssens S, Thelie A, Tran HT, Langenberg T, Vleminckx K, Bellefroid E, Cassiman JJ, Tejpar S. Pourebrahim R, et al. Among authors: vleminckx k. J Biol Chem. 2011 Oct 28;286(43):37732-40. doi: 10.1074/jbc.M111.242826. Epub 2011 Sep 9. J Biol Chem. 2011. PMID: 21908606 Free PMC article.
76 results