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Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Iacono G, Dubos A, Méziane H, Benevento M, Habibi E, Mandoli A, Riet F, Selloum M, Feil R, Zhou H, Kleefstra T, Kasri NN, van Bokhoven H, Herault Y, Stunnenberg HG. Iacono G, et al. Among authors: benevento m. Nucleic Acids Res. 2018 Jun 1;46(10):4950-4965. doi: 10.1093/nar/gky196. Nucleic Acids Res. 2018. PMID: 29554304 Free PMC article.
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
Balemans MC, Kasri NN, Kopanitsa MV, Afinowi NO, Ramakers G, Peters TA, Beynon AJ, Janssen SM, van Summeren RC, Eeftens JM, Eikelenboom N, Benevento M, Tachibana M, Shinkai Y, Kleefstra T, van Bokhoven H, Van der Zee CE. Balemans MC, et al. Among authors: benevento m. Hum Mol Genet. 2013 Mar 1;22(5):852-66. doi: 10.1093/hmg/dds490. Epub 2012 Nov 21. Hum Mol Genet. 2013. PMID: 23175442
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.
Balemans MC, Ansar M, Oudakker AR, van Caam AP, Bakker B, Vitters EL, van der Kraan PM, de Bruijn DR, Janssen SM, Kuipers AJ, Huibers MM, Maliepaard EM, Walboomers XF, Benevento M, Nadif Kasri N, Kleefstra T, Zhou H, Van der Zee CE, van Bokhoven H. Balemans MC, et al. Among authors: benevento m. Dev Biol. 2014 Feb 15;386(2):395-407. doi: 10.1016/j.ydbio.2013.12.016. Epub 2013 Dec 19. Dev Biol. 2014. PMID: 24362066 Free article.
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.
Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Iqbal Z, et al. Among authors: benevento m. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704603 Free PMC article.
ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function.
Ba W, Selten MM, van der Raadt J, van Veen H, Li LL, Benevento M, Oudakker AR, Lasabuda RSE, Letteboer SJ, Roepman R, van Wezel RJA, Courtney MJ, van Bokhoven H, Nadif Kasri N. Ba W, et al. Among authors: benevento m. Cell Rep. 2016 Feb 16;14(6):1355-1368. doi: 10.1016/j.celrep.2016.01.037. Epub 2016 Feb 4. Cell Rep. 2016. PMID: 26854232 Free article.
55 results