Afawi, Z., Goldberg-Stern, H., Helbig, I., Hammer, M., Pendziwiat, M., Cumbay, Medhane, Johnstone, L., Pan, Y., and Cummins, T.
描述:
Objective: Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant...
Tucker, M. E., Lyons, M. J., Demo, E., Wilkes, M. J., Fry, D., MacCarrick, G., Fleischer, J., Thomas, M. J., Groepper, D., and Steding, Catherine
描述:
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in...
Denton, Robert Daniel , Mueller, R. L., and Adams, A. N.
描述:
Transposable elements (TEs) are sequences that replicate and move throughout genomes, and they can be silenced through methylation of cytosines at CpG dinucleotides. TE abundance contributes to genome size, but TE silencing...