Now showing items 1-2 of 2

    • Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. 

      Wang, H.; Salter, C. G.; Refai, O.; Hardy, H.; Barwick, K. E. S.; Akpulat, U.; Kvarnung, M.; Chioza, B. A.; Harlalka, G.; Taylan, F.; Sejersen, T.; Wright, J.; Zimmerman, H. H.; Karakaya, M.; Stüve, B.; Weis, J.; Schara, U.; Russell, M. A.; Abdul-Rahman, O. A.; Chilton, J.; Blakely, R. D.; Baple, E. L.; Cirak, S.; Crosby, Andrew H. (Oxford Journals, 2017-11-01)
      The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. ...
    • Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci. 

      Hannon, E.; Weedon, M.; Bray, N.; O'Donovan, M.; Mill, Jonathan (Cell Press, 2017-06-01)
      Most genetic variants identified in genome-wide association studies (GWASs) of complex traits are thought to act by affecting gene regulation rather than directly altering the protein product. As a consequence, the actual ...