Now showing items 1-3 of 3

    • 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. ...
    • Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. 

      Muggenthaler, M M A; Chowdhury, B.; Hasan, S. N.; Cross, H. E.; Mark, B.; Harlalka, G. V.; Patton, M. A.; Ishida, M.; Behr, E. R.; Sharma, S.; Zahka, K.; Faqeih, E.; Blakley, B.; Jackson, M.; Lees, M.; Dolinsky, V. W.; Cross, L.; Stanier, P.; Salter, C.; Baple, E. L.; Alkuraya, F. S.; Crosby, Andrew H.; Triggs-Raine, B.; Chioza, B. A. (PLoS, 2017-01)
      Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this ...
    • MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. 

      Blanchet, P.; Bebin, M.; Bruet, S.; Cooper, G. M.; Thompson, M. L.; Duban-Bedu, B.; Gerard, B.; Piton, A.; Suckno, S.; Deshpande, C.; Clowes, V.; Vogt, J.; Turnpenny, Peter; Williamson, M. P.; Alembik, Y.; Glasgow, E.; McNeill, A. (PLoS, 2017-08)
      Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within ...