Genomic Medicine is a rapidly developing science-driven approach to health care. It potentially holds great benefits for patients, clinicians, heal
Lees meerHum Mol Genet. 2018 Nov 15. doi: 10.1093/hmg/ddy393. [Epub ahead of print] A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics. D'haene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Cobos FA, Verboom K, Eshel R, Alatawna R, ...
Lees meerABSTRACTTargeted genome editing by CRISPR/Cas9 is extremely well fitted to generate gene disruptions, although precise sequence replacement by CRISPR/Cas9-mediated homology-directed repair (HDR) suffers from low efficiency, impeding its use for high-throughput knock-in disease modeling. In this study, we used next-generation sequencing (NGS) analysis to determine the effici...
Lees meerAbstract Chromosome 17q gains are almost invariably present in high-risk neuroblastoma cases. Here, we perform an integrative epigenomics search for dosage-sensitive transcription factors on 17q marked by H3K27ac defined super-enhancers and identify TBX2 as top candidate gene. We show that TBX2 is a constituent of the recently e...
Lees meerDe novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationAbstractThe etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and function, where misregulation may lead to developmental defects. Here, we report pathogenic variations in...
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