https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20566 Wed 11 Apr 2018 10:41:17 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7942 Sat 24 Mar 2018 08:34:59 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:10419 A) in a published family with nonsyndromic MR, MRX13. This change occurs in a highly conserved amino acid, with proline (P) being substituted by threonine (T) (p.P544T). Functional analysis shows that this amino-acid substitution compromises both tri- and didemethylase activity of the JARID1C protein. We conclude that the two novel changes impair JARID1C protein function and are disease-causing mutations in these families.]]> Sat 24 Mar 2018 08:12:38 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5122 Sat 24 Mar 2018 07:48:57 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5320 Sat 24 Mar 2018 07:45:58 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25277 −11; odds ratio (OR) = 1.42, 95% confidence interval (CI) = 1.28–1.57). All four loci exhibited evidence for heterogeneity of effect across the stroke subtypes, with some and possibly all affecting risk for only one subtype. This suggests distinct genetic architectures for different stroke subtypes.]]> Sat 24 Mar 2018 07:38:17 AEDT ]]>