https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15067 Wed 11 Apr 2018 16:52:00 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15066 Wed 11 Apr 2018 14:58:51 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15068 Wed 11 Apr 2018 13:50:10 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28356 −9) in a combined discovery and replication set (26 953 samples). This single nucleotide polymorphism (SNP) is located within the RBFOX1 gene which is a neuron-specific splicing factor regulating a wide range of alternative splicing events implicated in neuronal development and maturation, including transcription factors, other splicing factors and synaptic proteins.]]> Sat 24 Mar 2018 07:25:12 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:32383 20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10 -5 ) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.]]> Mon 23 Sep 2019 12:09:41 AEST ]]>